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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
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.
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
Dhaenens CM, Burnouf S, Simonin C, Van Brussel E, Duhamel A, Defebvre L, Duru C, Vuillaume I, Cazeneuve C, Charles P, Maison P, Debruxelles S, Verny C, Gervais H, Azulay JP, Tranchant C, Bachoud-Levi AC, Dürr A, Buée L, Krystkowiak P, Sablonnière B, Blum D; Huntington French Speaking Network. Dhaenens CM, et al. Among authors: tranchant c. Neurobiol Dis. 2009 Sep;35(3):474-6. doi: 10.1016/j.nbd.2009.06.009. Epub 2009 Jul 8. Neurobiol Dis. 2009. PMID: 19591938
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. Marelli C, et al. Among authors: tranchant c. Arch Neurol. 2011 May;68(5):637-43. doi: 10.1001/archneurol.2011.81. Arch Neurol. 2011. PMID: 21555639 Free PMC article.
427 results