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Page 1
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.
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.
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.
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.
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: brice a. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.
Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Premi E, et al. Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8. Neurobiol Dis. 2023. PMID: 36898614 Free article.
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
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
Benussi A, Premi E, Grassi M, Alberici A, Cantoni V, Gazzina S, Archetti S, Gasparotti R, Fumagalli GG, Bouzigues A, Russell LL, Samra K, Cash DM, Bocchetta M, Todd EG, Convery RS, Swift I, Sogorb-Esteve A, Heller C, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce RJ, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, Mendonça A, Tiraboschi P, Butler CR, Santana I, Gerhard A, Le Ber I, Pasquier F, Ducharme S, Levin J, Sorbi S, Otto M, Padovani A, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Benussi A, et al. Alzheimers Res Ther. 2024 Jan 12;16(1):10. doi: 10.1186/s13195-024-01383-1. Alzheimers Res Ther. 2024. PMID: 38216961 Free PMC article.
1,097 results