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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E. Méneret A, et al. Among authors: tranchant c. Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744660
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: tranchant c. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
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
Neuroendocrine disturbances in Huntington's disease.
Saleh N, Moutereau S, Durr A, Krystkowiak P, Azulay JP, Tranchant C, Broussolle E, Morin F, Bachoud-Lévi AC, Maison P. Saleh N, et al. Among authors: tranchant c. PLoS One. 2009;4(3):e4962. doi: 10.1371/journal.pone.0004962. Epub 2009 Mar 25. PLoS One. 2009. PMID: 19319184 Free PMC article.
[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.
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease.
Lesage S, Condroyer C, Lohman E, Troiano A, Tison F, Viallet F, Damier P, Tranchant C, Vidhaillet M, Ouvrard-Hernandez AM, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group (FPDGSG). Lesage S, et al. Among authors: tranchant c. Neurobiol Aging. 2010 Jun;31(6):1069-71; discussion 1072-4. doi: 10.1016/j.neurobiolaging.2009.06.008. Epub 2009 Dec 8. Neurobiol Aging. 2010. PMID: 20004041
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
427 results