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Page 1
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: sayah s. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
Personality and Neuropsychological Profiles in Friedreich Ataxia.
Sayah S, Rotgé JY, Francisque H, Gargiulo M, Czernecki V, Justo D, Lahlou-Laforet K, Hahn V, Pandolfo M, Pelissolo A, Fossati P, Durr A. Sayah S, et al. Cerebellum. 2018 Apr;17(2):204-212. doi: 10.1007/s12311-017-0890-5. Cerebellum. 2018. PMID: 29086357
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.
Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, Levy R, Dubois B, Brice A, Durrleman S, Colliot O, Le Ber I; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group. Bertrand A, et al. Among authors: sayah s. JAMA Neurol. 2018 Feb 1;75(2):236-245. doi: 10.1001/jamaneurol.2017.4266. JAMA Neurol. 2018. PMID: 29197216 Free PMC article.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Among authors: sayah s. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Kmetzsch V, Anquetil V, Saracino D, Rinaldi D, Camuzat A, Gareau T, Jornea L, Forlani S, Couratier P, Wallon D, Pasquier F, Robil N, de la Grange P, Moszer I, Le Ber I, Colliot O, Becker E; PREV-DEMALS study group. Kmetzsch V, et al. J Neurol Neurosurg Psychiatry. 2021 May;92(5):485-493. doi: 10.1136/jnnp-2020-324647. Epub 2020 Nov 25. J Neurol Neurosurg Psychiatry. 2021. PMID: 33239440 Free PMC article.
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Among authors: sayah s. Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y. Genet Med. 2021. PMID: 33353973 Free article. No abstract available.
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.
Peakman G, Russell LL, Convery RS, Nicholas JM, Van Swieten JC, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tagliavini F, Santana I, Pasquier F, Levin J, Danek A, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI). Peakman G, et al. J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):158-168. doi: 10.1136/jnnp-2021-326868. Epub 2021 Aug 5. J Neurol Neurosurg Psychiatry. 2022. PMID: 34353857 Free PMC article.
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.
Shafiei G, Bazinet V, Dadar M, Manera AL, Collins DL, Dagher A, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Butler C, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Jiskoot LC, Seelaar H, van Swieten JC, Rohrer JD, Misic B, Ducharme S; Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI); GENetic Frontotemporal dementia Initiative (GENFI). Shafiei G, et al. Brain. 2023 Jan 5;146(1):321-336. doi: 10.1093/brain/awac069. Brain. 2023. PMID: 35188955 Free PMC article.
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
Bouzigues A, Russell LL, Peakman G, Bocchetta M, Greaves CV, Convery RS, Todd E, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Tartaglia MC, Finger E, van Swieten JC, Seelaar H, Jiskoot L, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Rohrer JD; Genetic FTD Initiative, GENFI. Bouzigues A, et al. J Neurol. 2022 Aug;269(8):4322-4332. doi: 10.1007/s00415-022-11068-0. Epub 2022 Mar 29. J Neurol. 2022. PMID: 35348856 Free PMC article.
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Samra K, MacDougall AM, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI). Samra K, et al. J Neurol. 2023 Mar;270(3):1466-1477. doi: 10.1007/s00415-022-11442-y. Epub 2022 Nov 17. J Neurol. 2023. PMID: 36385202 Free PMC article.
91 results