ArticleNeurology. Genetics2023
Expanding the Allelic Heterogeneity of
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. 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 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 43% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Wide-ranging cellular functions of ion channels and lipid scramblases in the structurally related TMC, TMEM16 and TMEM63 families.Nature structural & molecular biology · 2025Review
- Erratum: Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.Neurology. Genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 1 institution in 1 country.
Sean MasseyBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.ORCID https://orcid.org/0000-0002-0759-9306
Yiran GuoBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Lisa G RileyBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Nicole J Van BergenBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Sarah A SandaraduraBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Elizabeth McCuskerBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Michel TchanBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.ORCID https://orcid.org/0000-0001-9700-7898
Christel Thauvin-RobinetBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Quentin ThomasBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.ORCID https://orcid.org/0000-0003-1185-1663
Thibault MoreauBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Mark DavisBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Daphne SmitsBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Grazia M S ManciniBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Hakon HakonarsonBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Sandra CooperBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
John ChristodoulouBrain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.ORCID https://orcid.org/0000-0002-8431-0641
Children's Hospital at Westmead · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the Methods: We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the Results: One individual who presented clinically at a much earlier age than typical was homozygous for an Discussion: We presented rare pathogenic variants adding to the growing list of
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.