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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: millecamps s. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Alsin is partially associated with centrosome in human cells.
Millecamps S, Gentil BJ, Gros-Louis F, Rouleau G, Julien JP. Millecamps S, et al. Biochim Biophys Acta. 2005 Aug 15;1745(1):84-100. doi: 10.1016/j.bbamcr.2004.12.008. Epub 2005 Jan 19. Biochim Biophys Acta. 2005. PMID: 16085057 Free article.
Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis.
Millecamps S, Da Barroca S, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Lacomblez L, Le Forestier N, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E. Millecamps S, et al. Proc Natl Acad Sci U S A. 2010 Jun 29;107(26):E107; author reply E108. doi: 10.1073/pnas.1006190107. Epub 2010 Jun 10. Proc Natl Acad Sci U S A. 2010. PMID: 20538972 Free PMC article. No abstract available.
Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient.
Hernandez Lain A, Millecamps S, Dubourg O, Salachas F, Bruneteau G, Lacomblez L, LeGuern E, Seilhean D, Duyckaerts C, Meininger V, Mallet J, Pradat PF. Hernandez Lain A, et al. Among authors: millecamps s. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1414-6. doi: 10.1136/jnnp.2010.208868. Epub 2010 Jun 18. J Neurol Neurosurg Psychiatry. 2011. PMID: 20562395 No abstract available.
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V. Millecamps S, et al. J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577002 Free article.
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND. Broustal O, et al. Among authors: millecamps s. J Alzheimers Dis. 2010;22(3):765-9. J Alzheimers Dis. 2010. PMID: 21158017
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Corcia P, Le Forestier N, Lacomblez L, Bruneteau G, Seilhean D, Brice A, Feingold J, Meininger V, LeGuern E. Millecamps S, et al. Neurobiol Aging. 2011 Mar;32(3):557.e11-3. doi: 10.1016/j.neurobiolaging.2010.11.005. Epub 2011 Jan 8. Neurobiol Aging. 2011. PMID: 21220178
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C. Berdyński M, et al. Among authors: millecamps s. Amyotroph Lateral Scler. 2012 Jan;13(1):132-6. doi: 10.3109/17482968.2011.600316. Epub 2011 Aug 30. Amyotroph Lateral Scler. 2012. PMID: 21877919
68 results