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Page 1
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Among authors: rudolf g. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
Mallaret M, Lagha-Boukbiza O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tranchant C. Mallaret M, et al. Among authors: rudolf g. J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub 2013 Dec 24. J Neurol. 2014. PMID: 24366652 No abstract available.
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: rudolf g. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
XPR1 mutations are a rare cause of primary familial brain calcification.
Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G. Anheim M, et al. Among authors: rudolf g. J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26. J Neurol. 2016. PMID: 27230854
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Among authors: rudolf g. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.
Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.
Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M. Gebus O, et al. Among authors: rudolf g. J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6. J Neurol. 2017. PMID: 28478596
296 results