共 50 条
- [31] A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesBRAIN, 2020, 143 : 2904 - 2910Scriba, Carolin K.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaBeecroft, Sarah J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaClayton, Joshua S.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaCortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaSullivan, Roisin论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaYau, Wai Yan论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRodrigues, Miriam论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWalker, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDyer, Zoe论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWu, Teddy Y.论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Dept Neurol, Christchurch, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaChandler, David C.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Australian Genome Res Facil, Harry Perkins Inst Med Res, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWeisburd, Ben论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaLamont, Phillipa J.论文数: 0 引用数: 0 h-index: 0机构: Royal Perth Hosp, Neurogenet Unit, Perth, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRoxburgh, Richard H.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Auckland, Ctr Brain Res Neurogenet Res Clin, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia
- [32] Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansionCLINICAL NEUROPHYSIOLOGY, 2022, 134 : 34 - 36Kermorvant, Hugo论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, FranceDebs, Rabab论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurophysiol, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, FranceMaisonobe, Thierry论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurophysiol, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, FranceHuin, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CHU Lille, INSERM, LilNCog JPARC U1172,Lille Neurosci & Cognit, F-59000 Lille, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, FranceStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP,Inserm UMR S 974, Ctr Reference Malad Neuromusculaires,Nord Est Ile, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, FranceLenglet, Timothee论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurophysiol, F-75013 Paris, France Sorbonne Univ, Hop Pitie Salpetriere Hosp, AP HP, Dept Neurol,Paris ALS Ctr, F-75013 Paris, France
- [33] Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromesNEUROLOGY, 2020, 95 (21) : E2912 - E2923Gisatulin, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyDobricic, Valerija论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyZuehlke, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyHellenbroich, Yorck论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyTadic, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyMuenchau, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Syst Motor Sci, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyIsenhardt, Klaus论文数: 0 引用数: 0 h-index: 0机构: Klinikum Aschaffenburg, Dept Neurol, Aschaffenburg, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBuerk, Katrin论文数: 0 引用数: 0 h-index: 0机构: Kliniken Schmieder, Dept Neurol, Stuttgart, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBahlo, Melanie论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Melbourne, Vic, Australia Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia Univ Lubeck, Inst Neurogenet, Lubeck, GermanyLockhart, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Parkville, Vic, Australia Univ Melbourne, Royal Childrens Hosp, Dept Pediat, Parkville, Vic, Australia Univ Lubeck, Inst Neurogenet, Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyHelmchen, Christoph论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBrueggemann, Norbert论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Ctr Brain Behav & Metab, Lubeck, Germany Univ Med Ctr Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, Germany
- [34] Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxiaJournal of Neurology, 2022, 269 : 6086 - 6093Fatemeh Ghorbani论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenJelkje de Boer-Bergsma论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenCorien C. Verschuuren-Bemelmans论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenMaartje Pennings论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenEddy N. de Boer论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenBerry Kremer论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenEls K. Vanhoutte论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenJeroen J. de Vries论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenRaymond van de Berg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenErik-Jan Kamsteeg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenCleo C. van Diemen论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenHelga Westers论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenBart P. van de Warrenburg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenDineke S. Verbeek论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center Groningen
- [35] Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat ExpansionsMOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (07): : 1150 - 1151Fonte, Joana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, Portugal Ctr Hosp Univ Santo Antonio, Neurol Dept, P-4099001 Porto, Portugal Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, PortugalMachado, Celia论文数: 0 引用数: 0 h-index: 0机构: Hosp Braga, Neurol Dept, Braga, Portugal Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, PortugalOliveira, Jorge论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, CGPP Ctr Genet Predit & Prevent, IBMC Inst Biol Mol & Celular, Porto, Portugal Univ Porto, i3S Inst Invest & Inovacao Saude, Porto, Portugal Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, PortugalMagalhaes, Marina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, Portugal Ctr Hosp Univ Santo Antonio, Neurol Dept, Porto, Portugal
- [36] Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxiaJOURNAL OF NEUROLOGY, 2022, 269 (11) : 6086 - 6093Ghorbani, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlandsde Boer-Bergsma, Jelkje论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsVerschuuren-Bemelmans, Corien C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Med Ctr Groningen, Expertise Ctr Movement Disorders Groningen, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsPennings, Maartje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlandsde Boer, Eddy N.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsKremer, Berry论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands Univ Med Ctr Groningen, Expertise Ctr Movement Disorders Groningen, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsVanhoutte, Els K.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlandsde Vries, Jeroen J.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands Univ Med Ctr Groningen, Expertise Ctr Movement Disorders Groningen, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlandsvan de Berg, Raymond论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Sch Mental Hlth & Neurosci, Dept Otorhinolaryngol & Head & Neck Surg, Med Ctr, Maastricht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlandsvan Diemen, Cleo C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands论文数: 引用数: h-index:机构:van de Warrenburg, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, NetherlandsVerbeek, Dineke S.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands Univ Med Ctr Groningen, Expertise Ctr Movement Disorders Groningen, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, HPC CB50,POB 30001, NL-9700 RB Groningen, Netherlands
- [37] RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profileJOURNAL OF NEUROLOGY, 2024, 271 (05) : 2886 - 2892Pellerin, David论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaHeindl, Felix论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, German Ctr Vertigo & Balance Disorders, Munich, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaTraschuetz, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, Ctr Neurol, Tubingen, Germany German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Hartmann, Annette M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Clin Neurosci & Mental Hlth C3NMH, Dept Psychiat & Psychotherapy, Vienna, Austria McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaBrais, Bernard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Ctr Readaptat Lucie Bruneau, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaDufke, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaHaack, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaStrupp, Michael论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, German Ctr Vertigo & Balance Disorders, Munich, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, Ctr Neurol, Tubingen, Germany German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada
- [38] RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profileJournal of Neurology, 2024, 271 : 2886 - 2892David Pellerin论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteFelix Heindl论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteAndreas Traschütz论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteDan Rujescu论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteAnnette M. Hartmann论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteBernard Brais论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteHenry Houlden论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteClaudia Dufke论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteOlaf Riess论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteTobias Haack论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteMichael Strupp论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and InstituteMatthis Synofzik论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute
- [39] RFC1 gene intronic repeat expansion and unexplained chronic cough: A pathophysiological conundrumDearRESPIRATORY MEDICINE AND RESEARCH, 2021, 80Fargeot, G.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, France Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, FranceHumbert, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Hop Bicetre, AP HP, Inserm U999,Serv Pneumol & Soins Intensifs Resp, Le Kremlin Bicetre, France Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, France论文数: 引用数: h-index:机构:
- [40] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxiaJOURNAL OF HUMAN GENETICS, 2020, 65 (12) : 1143 - 1147Tsuchiya, Mai论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanNan, Haitian论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanKoh, Kishin论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanIchinose, Yuta论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanGao, Lihua论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanShimozono, Keisuke论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanHata, Takanori论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanKim, Yeon-Jeong论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Biochem, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanOhtsuka, Toshihisa论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Grad Sch Med Sci, Dept Biochem, Chuo Ku, Kofu, Yamanashi 4093898, Japan Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, JapanCortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Yamanashi, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kofu, Yamanashi 4093898, Japan论文数: 引用数: h-index:机构: