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Page 1
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G, Schalk A, Chanson JB, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Brais B, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: renaud m. J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23. J Neurol. 2024. PMID: 38263489
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. Mallaret M, et al. Among authors: renaud m. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24. Brain. 2014. PMID: 24369382 Free PMC article.
Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.
Renaud M, Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG, Chanson JB, Collongues N, Philippi N, Gebus O, Quenardelle V, Castrioto A, Krack P, N'Guyen K, Lefebvre F, Echaniz-Laguna A, Azulay JP, Meyer N, Labauge P, Tranchant C, Anheim M. Renaud M, et al. J Neurol. 2015 Feb;262(2):435-42. doi: 10.1007/s00415-014-7557-7. Epub 2014 Dec 2. J Neurol. 2015. PMID: 25451852
Delayed-onset Friedreich's ataxia revisited.
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M. Lecocq C, et al. Among authors: renaud m. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Mallaret M, et al. Among authors: renaud m. J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3. J Neurol. 2016. PMID: 27142713
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M. Marelli C, et al. Among authors: renaud m. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2. Hum Mutat. 2016. PMID: 27528516
456 results