ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Engert, James C., Bérubé, Pierre, Mercier, Jocelyne, Doré, Carole, Lepage, Pierre, Ge, Bing, Bouchard, Jean-Pierre, Mathieu, Jean +6 more·2000·Nature Genetics

Cited by (433)

Items 301–400 of 433

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  11. S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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  12. Neuroimaging of Pediatric Cerebellum in Inherited Neurodegenerative Diseases
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  28. JNK‐interacting protein 4 is a central molecule for lysosomal retrograde trafficking
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  38. An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study
    Alessandra Scaravilli, Gaia Mari, Ilaria Gabusi, Matteo Battocchio, Sara Bosticardo, Simona Schiavi, Benjamin Bender, Christoph Kessler, Roberta La Piana, Bart P.C. van de Warrenburg et al. · 2025 · European Journal of Neurology
  39. Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS
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  40. Association of the TNFRSF1B-rs1061622 variant with nonresponse to infliximab in ulcerative colitis
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  41. Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS – 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation
    Isabelle Lessard, Luc J. Hébert, Bernard Brais, Élise Duchesne, Xavier Rodrigue, Jean‐Denis Brisson, François Routhier, Krista L. Best, Isabelle Côté, Cynthia Gagnon · 2025 · The Cerebellum
  42. Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
    Víctor E. Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodríguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg · 2025 · Journal of Medical Case Reports
  43. Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review
    Meiyuan Chen, Xiaochuan Wang, Xiaojun Ye, Hongli Fang, Zhihao Wu, Jing Yang, Wenjie Wu, Jinghua Wang · 2025 · The Cerebellum
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  45. Les paraparésies spastiques héréditaires
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  46. Computational Analysis of a Novel SACS Gene Mutation with BioExtract Server
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