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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: vuillaume i. 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: vuillaume i. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
Simonin C, Devos D, Vuillaume I, de Martinville B, Sablonnière B, Destée A, Stoppa-Lyonnet D, Defebvre L. Simonin C, et al. Among authors: vuillaume i. J Neurol. 2008 Aug;255(8):1261-3. doi: 10.1007/s00415-008-0857-z. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575927 No abstract available.
[Triplet expansion diseases].
Sablonnière B, Vuillaume I, Schraen-Maschke S. Sablonnière B, et al. Among authors: vuillaume i. Ann Biol Clin (Paris). 2000 May-Jun;58(3):356-60. Ann Biol Clin (Paris). 2000. PMID: 10846241 Free article. Review. French. No abstract available.
Spinocerebellar ataxia: a rational approach to aetiological diagnosis.
Degardin A, Dobbelaere D, Vuillaume I, Defoort-Dhellemmes S, Hurtevent JF, Sablonnière B, Destée A, Defebvre L, Devos D. Degardin A, et al. Among authors: vuillaume i. Cerebellum. 2012 Mar;11(1):289-99. doi: 10.1007/s12311-011-0310-1. Cerebellum. 2012. PMID: 21892625
45 results