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Page 1
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: roubertie a. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
[Genetics contribution to the understanding of autism].
Demonceau N, Roubertie A, Cheminal R, Leydet J, Rivier F, Echenne B. Demonceau N, et al. Among authors: roubertie a. Arch Pediatr. 2005 Oct;12(10):1509-12. doi: 10.1016/j.arcped.2005.06.007. Epub 2005 Aug 15. Arch Pediatr. 2005. PMID: 16102953 French.
[Acute motor deficit in childhood: diagnosis management].
Roubertie A, Soëte S, Meyer P, Echenne B, Rivier F, Langlois C. Roubertie A, et al. Arch Pediatr. 2010 Mar;17(3):325-32. doi: 10.1016/j.arcped.2009.11.017. Epub 2009 Dec 31. Arch Pediatr. 2010. PMID: 20045298 Review. French.
Developmental and benign movement disorders in childhood.
Bonnet C, Roubertie A, Doummar D, Bahi-Buisson N, Cochen de Cock V, Roze E. Bonnet C, et al. Among authors: roubertie a. Mov Disord. 2010 Jul 30;25(10):1317-34. doi: 10.1002/mds.22944. Mov Disord. 2010. PMID: 20564735 Review.
186 results