Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Genes
Cerino, Mathieu M; González-Hormazábal, Patricio P; Abaji, Mario M; Courrier, Sebastien S; Puppo, Francesca F; Mathieu, Yves Y; Trangulao, Alejandra A; Earle, Nicholas N; Castiglioni, Claudia C; Díaz, Jorge J; Campero, Mario M; Hughes, Ricardo R; Vargas, Carmen C; Cortés, Rocío R; Kleinsteuber, Karin K; Acosta, Ignacio I; Urtizberea, J Andoni JA; Lévy, Nicolas N; Bartoli, Marc M; Krahn, Martin M; Jara, Lilian L; Caviedes, Pablo P; Gorokhova, Svetlana S; Bevilacqua, Jorge A JA
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Skeletal Muscle
Massouridès, Emmanuelle E; Polentes, Jérôme J; Mangeot, Philippe-Emmanuel PE; Mournetas, Virginie V; Nectoux, Juliette J; Deburgrave, Nathalie N; Nusbaum, Patrick P; Leturcq, France F; Popplewell, Linda L; Dickson, George G; Wein, Nicolas N; Flanigan, Kevin M KM; Peschanski, Marc M; Chelly, Jamel J; Pinset, Christian C
Publication Date: 2015
Variant appearance in text: DMD: 40_41del; Glu14ArgfsX17
Dystrophin quantification: Biological and translational research implications.
Neurology
Anthony, Karen K; Arechavala-Gomeza, Virginia V; Taylor, Laura E LE; Vulin, Adeline A; Kaminoh, Yuuki Y; Torelli, Silvia S; Feng, Lucy L; Janghra, Narinder N; Bonne, Gisèle G; Beuvin, Maud M; Barresi, Rita R; Henderson, Matt M; Laval, Steven S; Lourbakos, Afrodite A; Campion, Giles G; Straub, Volker V; Voit, Thomas T; Sewry, Caroline A CA; Morgan, Jennifer E JE; Flanigan, Kevin M KM; Muntoni, Francesco F
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
Nature Medicine
Wein, Nicolas N; Vulin, Adeline A; Falzarano, Maria S MS; Szigyarto, Christina Al-Khalili CA; Maiti, Baijayanta B; Findlay, Andrew A; Heller, Kristin N KN; Uhlén, Mathias M; Bakthavachalu, Baskar B; Messina, Sonia S; Vita, Giuseppe G; Passarelli, Chiara C; Brioschi, Simona S; Bovolenta, Matteo M; Neri, Marcella M; Gualandi, Francesca F; Wilton, Steve D SD; Rodino-Klapac, Louise R LR; Yang, Lin L; Dunn, Diane M DM; Schoenberg, Daniel R DR; Weiss, Robert B RB; Howard, Michael T MT; Ferlini, Alessandra A; Flanigan, Kevin M KM
Publication Date: 2014-09
Variant appearance in text: DMD: 40_41del; Glu14Argfs*17
A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle.
Plos One
Martin, Paul T PT; Golden, Bethannie B; Okerblom, Jonathan J; Camboni, Marybeth M; Chandrasekharan, Kumaran K; Xu, Rui R; Varki, Ajit A; Flanigan, Kevin M KM; Kornegay, Joe N JN