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Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Tezenas du Montcel S, et al. Among authors: golmard jl. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29. J Med Genet. 2014. PMID: 24780882 Free PMC article.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. Among authors: golmard jl. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S. Thion MS, et al. Among authors: golmard jl. Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16. Eur J Hum Genet. 2016. PMID: 26980106 Free PMC article.
Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?
Worbe Y, Mallet L, Golmard JL, Béhar C, Durif F, Jalenques I, Damier P, Derkinderen P, Pollak P, Anheim M, Broussolle E, Xie J, Mesnage V, Mondon K, Viallet F, Jedynak P, Ben Djebara M, Schüpbach M, Pelissolo A, Vidailhet M, Agid Y, Houeto JL, Hartmann A. Worbe Y, et al. Among authors: golmard jl. PLoS One. 2010 Sep 24;5(9):e12959. doi: 10.1371/journal.pone.0012959. PLoS One. 2010. PMID: 20885982 Free PMC article. Clinical Trial.
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.
Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E. Méneret A, et al. Among authors: golmard jl. Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7. Neurology. 2014. PMID: 24808016 Free PMC article.
A motor signature of REM sleep behavior disorder.
Oudiette D, Leu-Semenescu S, Roze E, Vidailhet M, De Cock VC, Golmard JL, Arnulf I. Oudiette D, et al. Among authors: golmard jl. Mov Disord. 2012 Mar;27(3):428-31. doi: 10.1002/mds.24044. Epub 2011 Dec 15. Mov Disord. 2012. PMID: 22173891
Validation of the Fautrel classification criteria for adult-onset Still's disease.
Lebrun D, Mestrallet S, Dehoux M, Golmard JL, Granger B, Georgin-Lavialle S, Arnaud L, Grateau G, Pouchot J, Fautrel B. Lebrun D, et al. Among authors: golmard jl. Semin Arthritis Rheum. 2018 Feb;47(4):578-585. doi: 10.1016/j.semarthrit.2017.07.005. Epub 2017 Jul 12. Semin Arthritis Rheum. 2018. PMID: 28760536
254 results