ArticleNeurology2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
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Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- The Expanding Frontier: The Role of Artificial Intelligence in Pediatric Neuroradiology.Children (Basel, Switzerland) · 2025Review
- The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.Italian journal of pediatrics · 2025Article
- Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (Biomedical reports · 2025Article
- Review
- ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Genome medicine · 2023Article
- RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.The Journal of clinical investigation · 2023Article
- Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
- [Cerebral palsy: new challenges in the era of rare diseases].Anales del sistema sanitario de Navarra · 2023Article
- Identification of a Novel Non-Canonical Splice-Site Variant inJournal of clinical medicine · 2023Article
- Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.Frontiers in neurology · 2023Article
- Loss of seryl-tRNA synthetase (Journal of medical genetics · 2022Article
- Molecular Modelling Hurdle in the Next-Generation Sequencing Era.International journal of molecular sciences · 2022Article
- Advances and Trends in Omics Technology Development.Frontiers in medicine · 2022Review
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Authors and funding
34 authors at 3 institutions in 2 countries.
Agatha SchlüterFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Agustí Rodríguez-PalmeroFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.ORCID 0000-0002-4141-5515
Edgard VerduraFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Valentina Vélez-SantamaríaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Montserrat RuizFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Stéphane FourcadeFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Laura Planas-SerraFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Juan José MartínezFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Cristina GuileraFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Marisa GirósFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Rafael ArtuchFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
María Eugenia YoldiFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Mar O'CallaghanFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Angels García-CazorlaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.ORCID 0000-0001-9853-688X
Judith ArmstrongFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Itxaso MartiFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Elisabet Mondragón RezolaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Claire RedinFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Jean Louis MandelFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
David ConejoFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Concepción Sierra-CórcolesFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Sergi BeltránFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Marta GutFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Elida VázquezFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Mireia Del ToroFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Mónica TroncosoFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Luis A Pérez-JuradoFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Luis G Gutiérrez-SolanaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Adolfo López de MunainFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Carlos CasasnovasFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Sergio Aguilera-AlbesaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Alfons MacayaFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.
Aurora PujolFrom the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain. apujol@idibell.cat.
GWMD working group
S.P.E.C.I.E.S. · USHospital Sant Joan de Déu Barcelona · ESNavarrabiomed · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.
methodsA case series of patients of all ages with undiagnosed GWMD despite extensive standard-of-care paraclinical studies were recruited between April 2017 and December 2019 in a collaborative study at the Bellvitge Biomedical Research Institute (IDIBELL) and neurology units of tertiary Spanish hospitals. We ran sWES and WGS and applied our interactome-prioritization algorithm based on the network expansion of a seed group of GWMD-related genes derived from the Human Phenotype Ontology terms of each patient.
resultsWe evaluated 126 patients (101 children and 25 adults) with ages ranging from 1 month to 74 years. We obtained a first molecular diagnosis by singleton WES in 59% of cases, which increased to 68% after annual reanalysis, and reached 72% after WGS was performed in 16 of the remaining negative cases. We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being DISCUSSION: Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the interactome-driven prioritization pipeline enables the discovery of novel disease-causing genes and phenotypes, and predicts novel putative candidate genes, shedding light on etiopathogenic mechanisms that are pivotal for myelin generation and maintenance.
Indexed as
Central Nervous System DiseasesExomeWhite MatterBase SequenceExome SequencingHumansWhole Genome Sequencing
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