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Page 1
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: brice a. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Méreaux JL, Davoine CS, Coutelier M, Guillot-Noël L, Castrioto A, Charles P, Coarelli G, Ewenczyk C, Klebe S, Heinzmann A, Méneret A, Fauret-Amsellem AL, de Sainte Agathe JM, Brice A, Durr A. Méreaux JL, et al. Among authors: brice a. J Med Genet. 2023 Jul;60(7):717-721. doi: 10.1136/jmg-2022-108924. Epub 2023 Jan 4. J Med Genet. 2023. PMID: 36599645
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.
Coarelli G, Tchikviladzé M, Dodet P, Arnulf I, Charles P, Tankeré F, Similowski T, Seilhean D, Brice A, Duyckaerts C, Durr A. Coarelli G, et al. Among authors: brice a. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12897. doi: 10.1111/nan.12897. Neuropathol Appl Neurobiol. 2023. PMID: 36855904 No abstract available.
Differences in Survival across Monogenic Forms of Parkinson's Disease.
Lanore A, Casse F, Tesson C, Courtin T, Menon PJ, Sambin S, Mangone G, Mariani LL, Lesage S, Brice A, Elbaz A, Corvol JC; French Clinicians Network for Parkinson's Disease Genetics (the PDG Group). Lanore A, et al. Among authors: brice a. Ann Neurol. 2023 Jul;94(1):123-132. doi: 10.1002/ana.26636. Epub 2023 Mar 27. Ann Neurol. 2023. PMID: 36905164
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem AL, Gareau T, Guegan J, Anheim M, Mariani LL, Le Forestier N, Tranchant C, Corvol JC, Lesage S, Brice A; French Parkinson's disease genetics study group (PDG). Casse F, et al. Among authors: brice a. Mov Disord Clin Pract. 2023 Mar 7;10(4):664-669. doi: 10.1002/mdc3.13699. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070044 Free PMC article.
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: brice a. Tremor Other Hyperkinet Mov (N Y). 2023 Jul 14;13:22. doi: 10.5334/tohm.792. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37457636 Free PMC article.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: brice a. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: brice a. J Neurol. 2024 Jul;271(7):3743-3753. doi: 10.1007/s00415-024-12475-1. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822840 Free PMC article.
Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Bernard HG, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: brice a. Mov Disord. 2024 Sep;39(9):1647-1648. doi: 10.1002/mds.29914. Epub 2024 Jun 28. Mov Disord. 2024. PMID: 38943243 Free article. No abstract available.
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.
Coarelli G, Dubec-Fleury C, Petit E, Sayah S, Fischer C, Nassisi M, Gatignol P, Dorgham K, Daghsen L, Daye P, Cunha P, Kacher R, Hilab R, Hurmic H, Lamazière A, Lamy JC, Welter ML, Chupin M, Mangin JF, Lane R, Gaymard B, Pouget P, Audo I, Brice A, Tezenas du Montcel S, Durr A. Coarelli G, et al. Among authors: brice a. Neurology. 2024 Sep 10;103(5):e209749. doi: 10.1212/WNL.0000000000209749. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133883 Free PMC article.
1,097 results