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Challenging diagnosis and treatment decision of a long-history autoantibody-negative autoimmune encephalitis.
Calvat P, Leung C, Bost C, Fortenfant F, Simonetta-Moreau M, Pariente J, Rafiq M, Brefel-Courbon C, Rascol O, Fabbri M, Ory-Magne F. Calvat P, et al. Among authors: brefel courbon c. Parkinsonism Relat Disord. 2023 Feb;107:105232. doi: 10.1016/j.parkreldis.2022.105232. Epub 2022 Dec 7. Parkinsonism Relat Disord. 2023. PMID: 36509623 No abstract available.
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A. Abbas N, et al. Hum Mol Genet. 1999 Apr;8(4):567-74. doi: 10.1093/hmg/8.4.567. Hum Mol Genet. 1999. PMID: 10072423
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
Periquet M, Lücking C, Vaughan J, Bonifati V, Dürr A, De Michele G, Horstink M, Farrer M, Illarioshkin SN, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, Breteler MM, Wood N, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Am J Hum Genet. 2001 Mar;68(3):617-26. doi: 10.1086/318791. Epub 2001 Feb 14. Am J Hum Genet. 2001. PMID: 11179010 Free PMC article.
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.
Lesage S, Condroyer C, Lannuzel A, Lohmann E, Troiano A, Tison F, Damier P, Thobois S, Ouvrard-Hernandez AM, Rivaud-Péchoux S, Brefel-Courbon C, Destée A, Tranchant C, Romana M, Leclere L, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. J Med Genet. 2009 Jul;46(7):458-64. doi: 10.1136/jmg.2008.062612. Epub 2009 Apr 8. J Med Genet. 2009. PMID: 19357115
125 results