ArticleNeurology. Genetics2024
Assessment of the Clinical Interactions of GAA Repeat Expansions in
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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. Cited by 5 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions inNeurology. Genetics · 2026Article
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Rethinking TREM2 as a target for Alzheimer's disease after the INVOKE-2 trial failure.Nature medicine · 2025Article
- Friedreich ataxia: what can we learn from non-GAA repeat mutations?Neurodegenerative disease management · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Brandon J GerhartFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
David PellerinFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0002-5807-995X
Matt C DanziFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0003-1568-5965
Stephan ZuchnerFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
Bernard BraisFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0003-1394-3561
Gabriel Matos-RodriguesFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0003-4085-7810
Andre NussenzweigFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
Karen UsdinFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
Courtney C ParkFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0009-0009-4569-584X
Jill S NapieralaFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
David R LynchFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0001-7168-214X
Marek NapieralaFrom the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0002-9987-0641
Funding
GAA REPEATS INDUCED EPIGENETIC SILENCING IN FRIEDREICH'S ATAXIAR01NS081366 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI NAPIERALA, MAREK · 2012 to 2021
$3.7MDefining the impact of Frataxin point mutations on Friedreich's ataxia pathogenesisR01NS121038 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI NAPIERALA, MAREK · 2021 to 2025
$2.0MNINDS NIH HHS R01 NS081366NINDS NIH HHS R01 NS121038
Abstract
Background and Objectives: The number of GAA repeats in the Methods: The number of GAA repeats in the Results: We found no significant correlation between the size of the GAA repeats in Discussion: Despite both molecular and clinical similarities between FRDA and SCA27B, the length of the GAA repeats in the
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