ArticleBrain : a journal of neurology2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
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Article in Brain : a journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
–field-weighted citation impact
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Who cites it
29 citing papers in PubMed.
- Novel homozygousTherapeutic advances in neurological disorders · 2026Article
- Article
- Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Cerebellum (London, England) · 2025Article
- Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation.Movement disorders clinical practice · 2025Article
- Article
- Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review.Journal of movement disorders · 2023Article
- Tremulous spastic ataxia in a patient with a homozygous truncatingClinical parkinsonism & related disorders · 2023Article
- The ANC-1 (Nesprin-1/2) organelle-anchoring protein functions through mitochondria to polarize axon growth in response to SLT-1.PLoS genetics · 2022Article
- Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.Cerebellum (London, England) · 2022Article
- Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated WithFrontiers in genetics · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.Cerebellum (London, England) · 2021Article
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.Cerebellum (London, England) · 2021Article
- Comparative Genome and Transcriptome Integration Studies Reveal the Mechanism of Pectoral Muscle Development and Function in Pigeons.Frontiers in genetics · 2021Article
- What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?Journal of personalized medicine · 2020Review
- Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.American journal of human genetics · 2020Article
- Syncrip/hnRNP Q is required for activity-induced Msp300/Nesprin-1 expression and new synapse formation.The Journal of cell biology · 2020Article
- Ataxia.Continuum (Minneapolis, Minn.) · 2019Review
- Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.Cerebellum (London, England) · 2019Article
Corrections and comments
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Authors and funding
21 authors.
Inès Mademan1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
Florian Harmuth3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
Ilaria Giordano4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Dagmar Timmann6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
Stefania Magri7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Tine Deconinck1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
Jens Claaßen6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
Daniel Jokisch6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
Gencer Genc8 Department of Neurology, Gumussuyu Military Hospital, Istanbul, Turkey.
Daniela Di Bella7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Silvia Romito9 Division of Neurology, Department of Neuroscience, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Rebecca Schüle10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Stephan Züchner12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Franco Taroni7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Thomas Klockgether4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Ludger Schöls10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Peter De Jonghe1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium.
Peter Bauer3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
Eoa Consortium
Jonathan Baets1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium.
Matthis Synofzik10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany matthis.synofzik@uni-tuebingen.de.
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MGENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2MGenomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0MMolecular And Genetic Analysis Of Autosomal Dominant Spastic ParaplegiaR01NS054132 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ZUCHNER, STEPHAN · 2008 to 2011
$1.3MNINDS NIH HHS R01 NS054132NINDS NIH HHS R01 NS072248NINDS NIH HHS R01 NS075764NINDS NIH HHS U54 NS065712
Abstract
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Indexed as
AtaxiaCerebellar AtaxiaDNA Mutational AnalysisHumansMutationPhenotype
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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.