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A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group. Renaud M, et al. Among authors: anheim m. Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21. Ann Neurol. 2017. PMID: 29059497
[Ataxia associated with gluten sensitivity, myth or reality?].
Anheim M, Degos B, Echaniz-Laguna A, Fleury M, Grucker M, Tranchant C. Anheim M, et al. Rev Neurol (Paris). 2006 Feb;162(2):214-21. doi: 10.1016/s0035-3787(06)75002-0. Rev Neurol (Paris). 2006. PMID: 16518262 French.
[Motor and sensory deficit in the limbs].
Anheim M, Tranchant C. Anheim M, et al. Rev Prat. 2007 Sep 15;57(13):1481-6; quiz 1486. Rev Prat. 2007. PMID: 18018548 French. No abstract available.
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.
Anheim M, Hannequin D, Boulay C, Martin C, Campion D, Tranchant C. Anheim M, et al. J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1414-5. doi: 10.1136/jnnp.2007.123026. J Neurol Neurosurg Psychiatry. 2007. PMID: 18024701 Free PMC article. No abstract available.
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: anheim m. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
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: anheim m. 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.
234 results