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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Among authors: koenig m, m zahem a. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032
Exonic deletions of FXN and early-onset Friedreich ataxia.
Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M. Anheim M, et al. Among authors: koenig m. Arch Neurol. 2012 Jul;69(7):912-6. doi: 10.1001/archneurol.2011.834. Arch Neurol. 2012. PMID: 22409940
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: koenig m. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
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: koenig m. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2. Hum Mutat. 2016. PMID: 27528516
955 results