ArticleNeurology. Genetics2024
Complex
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers.
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11citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
11 citing papers in PubMed.
- Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.BMC medical genomics · 2026Article
- Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.NPJ genomic medicine · 2026Article
- Exploring the phenotypic and genotypic spectrum of spinal muscular atrophy in Bangladeshi children.BMC neurology · 2026Article
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.American journal of human genetics · 2026Article
- First combined analysis ofMolecular genetics and metabolism reports · 2026Article
- Single NucleotideNeurology. Genetics · 2025Article
- In utero therapy for spinal muscular atrophy: closer to clinical translation.Brain : a journal of neurology · 2025Review
- Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.Genome medicine · 2025Article
- Erratum: ComplexNeurology. Genetics · 2024Article
- Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.Annals of clinical and translational neurology · 2024Article
- Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study.Frontiers in neurologyArticle
Corrections and comments
- Erratum issuedErratum: Complex2024
Authors and funding
11 authors.
Mar Costa-RogerFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Laura Blasco-PérezFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Lorene GerinFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Marta Codina-SolàFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Jordi Leno-ColoradoFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Marta Gómez-García De la BandaFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Rocio Garcia-UzquianoFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Pascale Saugier-VeberFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.ORCID https://orcid.org/0000-0002-8045-6432
Séverine DrunatFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Susana Quijano-RoyFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.ORCID https://orcid.org/0000-0002-8503-6111
Eduardo F TizzanoFrom the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.ORCID https://orcid.org/0000-0002-7116-6310
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in the Methods: We studied 31 patients with SMA, followed at a single center and molecularly diagnosed by Multiplex Ligand-Dependent Probe Amplification (MLPA), with a specific next-generation sequencing protocol to investigate their Results: We detected Discussion: Although hybrid genes have been proposed to be beneficial for patients with SMA, our work revealed great complexity and variability between hybrid structures; therefore, each hybrid structure should be studied independently to determine its contribution to the SMA phenotype. Large-scale studies are needed to gain a better understanding of the function and implications of
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