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
DOI 10.1038/72769
Cited by (433)
Items 301–400 of 433
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- S?ndromes at?xicos. Ataxias heredodegenerativas y adquiridasHortensia Alonso‐Navarro, J.A. Burguera Hernndez, M.R. Luquin Piudo, F.J. Jim�nez-Jim�nez · 2007 · Medicine - Programa de Formación Médica Continuada Acreditado
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- Using the ancestral recombination graph to study the history of rare variants in founder populationsAlejandro Mejía‐García, Alex Diaz-Papkovich, Guillaume Sillon, Daniela D’Agostino, Anne‐Laure Chong, George Chong, Ken Sin Lo, Laurence Baret, Nancy Hamel, Vincent Chapdelaine et al. · 2025 · The American Journal of Human Genetics
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- Disorders of the Cerebellum, Including the Degenerative AtaxiasSub H. Subramony, Guangbin Xia · 2012 · Elsevier eBooks
- A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to HaploinsufficiencyDanyeong Kim, Nayoung Ryoo, Young Ho Park, Eva Bagyinszky, Seong Soo A. An, SangYun Kim · 2023 · Current Issues in Molecular Biology
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- Hereditary ataxias and paediatric neurology: new movers and shakers enter the fieldPatrick J. Morrison · 2003 · European Journal of Paediatric Neurology
- An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX StudyAlessandra 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
- Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACSLouis-Charles Masson, Atchaya S Kanagasabai, Brenda Toscano‐Márquez, Julia Tourbina-Kolomiets, François M. Charron, Alanna Jean Watt, Rebecca Anne McKinney · 2025 · The Cerebellum
- Association of the TNFRSF1B-rs1061622 variant with nonresponse to infliximab in ulcerative colitisLaurence Tessier, Ann-Lorie Gagnon, Sophie St-Amour, Mathilde Côté, Catherine Allard, Mathieu Durand, Danny Bergeron, Alexandre Lavoie, Alban Michaud-Herbst, Karine Tremblay · 2025 · Scientific Reports
- 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 ParticipationIsabelle 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
- Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case reportVíctor E. Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodríguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg · 2025 · Journal of Medical Case Reports
- Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature ReviewMeiyuan Chen, Xiaochuan Wang, Xiaojun Ye, Hongli Fang, Zhihao Wu, Jing Yang, Wenjie Wu, Jinghua Wang · 2025 · The Cerebellum
- Ataxies et paraplégies spastiques héréditairesBenoît Funalot, Catherine Lamy · 2004 · Encyclopédie médico-chirurgicale. Neurologie
- Les paraparésies spastiques héréditairesPerrine Charles, Christel Depienne, Giovanni Stévanin, Alexis Brice, Alexandra Dürr · 2010 · Pratique Neurologique - FMC
- Computational Analysis of a Novel SACS Gene Mutation with BioExtract ServerYosr Bouhlal, Douglas M. Jennewein, Brent Anderson, Joe Reynoldson, Wieme Maamouri-Hicheri, Fayçal Hentati, Rim Amouri, Carol Lushbough · 2011 · Journal of Molecular Neuroscience
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- Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesisAlexandre Paré, Cheng-Boivin Zacharie, Afrooz Dabbaghizadeh, Sandra Minotti, Heather D. Durham, Benoît J. Gentil · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
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