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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: ollivier e. 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
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Wirth T, Mariani LL, Bergant G, Baulac M, Habert MO, Drouot N, Ollivier E, Hodžić A, Rudolf G, Nitschke P, Rudolf G, Chelly J, Tranchant C, Anheim M, Roze E. Wirth T, et al. Among authors: ollivier e. Mov Disord. 2020 May;35(5):880-885. doi: 10.1002/mds.27982. Epub 2020 Jan 10. Mov Disord. 2020. PMID: 31922365
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschké P, Ollivier E, Sanlaville D, Hirsch E, Chelly J, Lesca G. Rudolf G, et al. Among authors: ollivier e. Eur J Paediatr Neurol. 2020 Jul;27:104-110. doi: 10.1016/j.ejpn.2020.05.003. Epub 2020 May 29. Eur J Paediatr Neurol. 2020. PMID: 32600977
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, Bole-Feysot C, Romana S, Hastie A, Cantagrel V, Malan V. Nicolle R, et al. Among authors: ollivier e. Eur J Hum Genet. 2022 Jun;30(6):712-720. doi: 10.1038/s41431-022-01094-x. Epub 2022 Apr 7. Eur J Hum Genet. 2022. PMID: 35388186 Free PMC article.
Hunting for the genetic basis of Susac syndrome.
David C, Papo T, Ba I, Ollivier E, Boileau C, Dieudé P, Keren B, Kannengiesser C, Sacre K. David C, et al. Among authors: ollivier e. Eur J Neurol. 2021 Jul;28(7):e57-e59. doi: 10.1111/ene.14836. Epub 2021 Apr 7. Eur J Neurol. 2021. PMID: 33773011 No abstract available.
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Mouka A, Arkoun B, Moison P, Drévillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chrétien L, Tosca L. Mouka A, et al. Among authors: ollivier e. Sci Rep. 2022 Aug 22;12(1):14302. doi: 10.1038/s41598-022-17337-2. Sci Rep. 2022. PMID: 35995809 Free PMC article.
105 results