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Page 1
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Blanchard A, Roubertie A, Simonetta-Moreau M, Ea V, Coquart C, Frederic MY, Gallouedec G, Adenis JP, Benatru I, Borg M, Burbaud P, Calvas P, Cif L, Damier P, Destee A, Faivre L, Guyant-Marechal L, Janik P, Janoura S, Kreisler A, Lusakowska A, Odent S, Potulska-Chromik A, Rudzińska M, Thobois S, Vuillaume I, Tranchant C, Tuffery-Giraud S, Coubes P, Sablonnière B, Claustres M, Collod-Béroud G. Blanchard A, et al. Among authors: roubertie a. Mov Disord. 2011 Aug 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25. Mov Disord. 2011. PMID: 21520283 No abstract available.
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: roubertie a. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A, Roubertie A, Frédéric MY, Claustres M, Collod-Béroud G. Blanchard A, et al. Among authors: roubertie a. Rev Neurol (Paris). 2010 Apr;166(4):389-99. doi: 10.1016/j.neurol.2009.09.007. Rev Neurol (Paris). 2010. PMID: 19836812 Free article. Review. French.
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G. Miltgen M, et al. Among authors: roubertie a. Mov Disord. 2016 Aug;31(8):1251-2. doi: 10.1002/mds.26717. Epub 2016 Jul 9. Mov Disord. 2016. PMID: 27392807 Free article. No abstract available.
Deep brain stimulation treated dystonia-trajectory via status dystonicus.
Nerrant E, Gonzalez V, Milesi C, Vasques X, Ruge D, Roujeau T, De Antonio Rubio I, Cyprien F, Seng EC, Demailly D, Roubertie A, Boularan A, Greco F, Perrigault PF, Cambonie G, Coubes P, Cif L. Nerrant E, et al. Among authors: roubertie a. Mov Disord. 2018 Jul;33(7):1168-1173. doi: 10.1002/mds.27357. Epub 2018 May 22. Mov Disord. 2018. PMID: 29786895
186 results