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FXTAS: new insights and the need for revised diagnostic criteria.
Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M. Apartis E, et al. Among authors: fraix v. Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077007
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Among authors: fraix v. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136. Brain. 2003. PMID: 12764050
How much phenotypic variation can be attributed to parkin genotype?
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: fraix v. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670
Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's disease.
Moreau C, Meguig S, Corvol JC, Labreuche J, Vasseur F, Duhamel A, Delval A, Bardyn T, Devedjian JC, Rouaix N, Petyt G, Brefel-Courbon C, Ory-Magne F, Guehl D, Eusebio A, Fraix V, Saulnier PJ, Lagha-Boukbiza O, Durif F, Faighel M, Giordana C, Drapier S, Maltête D, Tranchant C, Houeto JL, Debû B, Azulay JP, Tison F, Destée A, Vidailhet M, Rascol O, Dujardin K, Defebvre L, Bordet R, Sablonnière B, Devos D; Parkgait-II Study Group. Moreau C, et al. Among authors: fraix v. Brain. 2015 May;138(Pt 5):1271-83. doi: 10.1093/brain/awv063. Epub 2015 Mar 23. Brain. 2015. PMID: 25805645 Free PMC article. Clinical Trial.
Are parkin patients particularly suited for deep-brain stimulation?
Lohmann E, Welter ML, Fraix V, Krack P, Lesage S, Laine S, Tanguy ML, Houeto JL, Mesnage V, Pollak P, Durr A, Agid Y, Brice A; French Parkinson's Disease Genetics study group. Lohmann E, et al. Among authors: fraix v. Mov Disord. 2008 Apr 15;23(5):740-3. doi: 10.1002/mds.21903. Mov Disord. 2008. PMID: 18228569
148 results