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253 results

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Page 1
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Ibáñez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Ibáñez P, et al. Among authors: thobois s. Neurology. 2003 Nov 25;61(10):1429-31. doi: 10.1212/01.wnl.0000094121.48373.fd. Neurology. 2003. PMID: 14638971
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network. Tezenas du Montcel S, et al. Among authors: thobois s. J Med Genet. 2006 May;43(5):394-400. doi: 10.1136/jmg.2005.036780. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227522 Free PMC article.
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M. Lesage S, et al. Among authors: thobois s. Arch Neurol. 2007 Mar;64(3):425-30. doi: 10.1001/archneur.64.3.425. Arch Neurol. 2007. PMID: 17353388
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M. Roze E, et al. Among authors: thobois s. Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0. Neurology. 2008. PMID: 18362280
A multidisciplinary study of patients with early-onset PD with and without parkin mutations.
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group. Lohmann E, et al. Among authors: thobois s. Neurology. 2009 Jan 13;72(2):110-6. doi: 10.1212/01.wnl.0000327098.86861.d4. Epub 2008 Nov 5. Neurology. 2009. PMID: 18987353 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. Among authors: thobois s. 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
253 results