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466 results

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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: destee 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.
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: destee 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.
Myoclonus of peripheral origin: two case reports.
Tyvaert L, Krystkowiak P, Cassim F, Houdayer E, Kreisler A, Destée A, Defebvre L. Tyvaert L, et al. Among authors: destee a. Mov Disord. 2009 Jan 30;24(2):274-7. doi: 10.1002/mds.21998. Mov Disord. 2009. PMID: 19086086
Writing tremor: Should we look for a TOR1A mutation?
Aerts C, Cassim F, Strubi-Vuillaume I, Destée A, Sablonnière B, Collod-Béroud G, Defebvre L, Kreisler A. Aerts C, et al. Among authors: destee a. J Neurol Sci. 2017 Nov 15;382:146-147. doi: 10.1016/j.jns.2017.09.048. Epub 2017 Oct 2. J Neurol Sci. 2017. PMID: 29111010 Free article. No abstract available.
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: destee a. 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.
466 results