Molecular heterogeneity in fetal forms of type II lissencephaly

Autor: Pascale Marcorelles, Férechté Encha-Razavi, Bettina Bessieres-Grattagliano, Sandrine Vuillaumier-Barrot, Dominique Carles, F. Pelluard-Nehmé, Jelena Martinovic, Louise Devisme, S. Triau, Sophie Patrier, Fabien Guimiot, Maryse Bonnières, Nicole Laurent, Dominique Bonneau, S. Delahaye, Nathalie Seta, A. Liprandi, Dominique Figarella-Branger, C. Lebizec, Annie Laquerrière, Madeleine Joubert, C. Rouleau-Dubois, C. Bouchet, M.J. Perez, E. Alanio, Marie Gonzales, B. Gasser, Philippe Loget, Catherine Fallet-Bianco, F. Menez, N. Bigi, Anne Bazin, Dominique Gaillard, Patricia Blanchet

Publikováno v: Human Mutation. 28:1020-1027

Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or mus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41e4b47786e61780a2e77438956cf57
https://doi.org/10.1002/humu.20561

Molecular heterogeneity in fetal forms of type II lissencephaly.

Autor: Bouchet C; Assistance Publique-Hôpitaux de Paris (APHP), Bichat-Claude Bernard Hospital, Biochimie Métabolique, Paris, France., Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N

Publikováno v: Human mutation [Hum Mutat] 2007 Oct; Vol. 28 (10), pp. 1020-7.