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Page 1
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Among authors: cif l. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: cif l. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.
The p.Asp216His TOR1A allele effect is not found in the French population.
Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: cif l. Mov Disord. 2009 Apr 30;24(6):919-21. doi: 10.1002/mds.22407. Mov Disord. 2009. PMID: 19260107 Free article.
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: cif l. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
80 results