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Page 1
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M. Traschütz A, et al. Among authors: anheim m. Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7. Mov Disord. 2023. PMID: 37027459 No abstract available.
[Autosomal recessive cerebellar ataxias].
Tranchant C, Anheim M. Tranchant C, et al. Among authors: anheim m. 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.
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: m zahem a. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.
H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M. H'mida-Ben Brahim D, et al. Among authors: anheim m, m zahem a. J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27. J Neurol. 2011. PMID: 20798953
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: anheim m. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
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: anheim 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.
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M. Renaud M, et al. Among authors: anheim m. JAMA Neurol. 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193. JAMA Neurol. 2014. PMID: 25089919
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. Among authors: anheim m. 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: anheim m. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
232 results