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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Parodi L, Barbier M, Jacoupy M, Pujol C, Lejeune FX, Lallemant-Dudek P, Esteves T, Pennings M, Kamsteeg EJ, Guillaud-Bataille M, Banneau G, Coarelli G, Oumoussa BM, Fraidakis MJ, Stevanin G, Depienne C, van de Warrenburg B, Brice A, Durr A. Parodi L, et al. Among authors: lejeune fx. Genet Med. 2022 Nov;24(11):2308-2317. doi: 10.1016/j.gim.2022.07.023. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36056923 Free article.
Huntington's Disease with Small CAG Repeat Expansions.
Heinzmann A, Sayah S, Lejeune FX, Hahn V, Teichmann M, Monin ML, Marchionni E, Gérard F, Charles P, Pariente J, Durr A. Heinzmann A, et al. Among authors: lejeune fx. Mov Disord. 2023 Jul;38(7):1294-1306. doi: 10.1002/mds.29427. Epub 2023 Jun 8. Mov Disord. 2023. PMID: 37288993
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC; French Parkinson disease Genetics Study Group (PDG). Menon PJ, et al. Among authors: lejeune fx. NPJ Parkinsons Dis. 2024 Mar 29;10(1):72. doi: 10.1038/s41531-024-00677-3. NPJ Parkinsons Dis. 2024. PMID: 38553467 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: lejeune fx. 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.
FOXO3 targets are reprogrammed as Huntington's disease neural cells and striatal neurons face senescence with p16INK4a increase.
Voisin J, Farina F, Naphade S, Fontaine M, Tshilenge KT, Galicia Aguirre C, Lopez-Ramirez A, Dancourt J, Ginisty A, Sasidharan Nair S, Lakshika Madushani K, Zhang N, Lejeune FX, Verny M, Campisi J, Ellerby LM, Neri C. Voisin J, et al. Among authors: lejeune fx. Aging Cell. 2020 Nov;19(11):e13226. doi: 10.1111/acel.13226. Epub 2020 Nov 6. Aging Cell. 2020. PMID: 33156570 Free PMC article.
51 results