Publications:

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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

Publication Date: 2022-06-16

Variant appearance in text: DMD: 40_41del

PubMed Link: 35741838

Variant Present in the following documents:

• Main text
• genes-13-01076.pdf

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Becker muscular dystrophy caused by exon 2-truncating mutation of DMD.

Human Genome Variation

Ikeda, Tetsuhiko T; Fujinaka, Hidehiko H; Goto, Kiyoe K; Nakajima, Takashi T; Ozawa, Tetsuo T

Publication Date: 2019

Variant appearance in text: DMD: 40_41del; Glu14ArgfsX17

PubMed Link: 31754439

Variant Present in the following documents:

• Main text
• 41439_2019_Article_83.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 40_41delGA; Glu14ArgfsX17

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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

PubMed Link: 26568816

Variant Present in the following documents:

• Main text
• 13395_2015_Article_62.pdf

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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

Publication Date: 2014-11-25

Variant appearance in text: DMD: 40_41delGA

PubMed Link: 25355828

Variant Present in the following documents:

• Main text
• NEUROLOGY2014579201.pdf

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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

PubMed Link: 25108525

Variant Present in the following documents:

• Main text
• nihms602834.pdf

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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

Publication Date: 2014

Variant appearance in text: DMD: 40_41delGA

PubMed Link: 24505439

Variant Present in the following documents:

• Main text
• pone.0088226.pdf

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DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human Mutation

Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM

Publication Date: 2009-04

Variant appearance in text: DMD: 40_41delGA; Glu14ArgfsX17

PubMed Link: 19206170

Variant Present in the following documents:

• Main text

View BVdb publication page

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