Author:
Mallaret Martial,Renaud Mathilde,Redin Claire,Drouot Nathalie,Muller Jean,Severac Francois,Mandel Jean Louis,Hamza Wahiba,Benhassine Traki,Ali-Pacha Lamia,Tazir Meriem,Durr Alexandra,Monin Marie-Lorraine,Mignot Cyril,Charles Perrine,Van Maldergem Lionel,Chamard Ludivine,Thauvin-Robinet Christel,Laugel Vincent,Burglen Lydie,Calvas Patrick,Fleury Marie-Céline,Tranchant Christine,Anheim Mathieu,Koenig Michel
Funder
Agence Nationale de la Recherche (FR)
Agence Nationale de la Recherche
ANR/E-rare JTC 2011 “Euro-SCAR”
Journées de Neurologie de Langue Française
Agence de la Biomédecine
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Reference22 articles.
1. Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M (2010) Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace. Eastern France: implications for clinical management Neurogenetics 11:1–12
2. Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O’Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J (2013) Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 136:3106–3118
3. Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366:636–646
4. Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J (2012) Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet 49:502–512
5. Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, Blavier A, Laporte J, Muller J (2015) VaRank: a simple and powerful tool for ranking genetic variants. PeerJ 3:e796. doi: 10.7717/peerj.796
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献