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427 results

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Page 1
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: tranchant c. 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.
Movement disorders in multiple sclerosis.
Tranchant C, Bhatia KP, Marsden CD. Tranchant C, et al. Mov Disord. 1995 Jul;10(4):418-23. doi: 10.1002/mds.870100403. Mov Disord. 1995. PMID: 7565820 Review.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: tranchant c. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. Anheim M, et al. Among authors: tranchant c. J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19224311
[Autosomal recessive cerebellar ataxias].
Tranchant C, Anheim M. Tranchant C, et al. Presse Med. 2009 Dec;38(12):1852-9. doi: 10.1016/j.lpm.2009.01.025. Epub 2009 May 12. Presse Med. 2009. PMID: 19442480 Review. French.
Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases.
Marcel C, Anheim M, Flamand-Rouvière C, Heran F, Masnou P, Boulay C, Mari I, Tranchant C, Roze E. Marcel C, et al. Among authors: tranchant c. J Neurol. 2010 Aug;257(8):1369-72. doi: 10.1007/s00415-010-5534-3. Epub 2010 Mar 30. J Neurol. 2010. PMID: 20352251
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: tranchant c. 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.
The autosomal recessive cerebellar ataxias.
Anheim M, Tranchant C, Koenig M. Anheim M, et al. Among authors: tranchant c. N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. N Engl J Med. 2012. PMID: 22335741 Review. No abstract available.
427 results