PMC Articles for MedGen (Select 1794212) - PMC

Select item 82877971.

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong

Orphanet J Rare Dis. 2021; 16: 319. Published online 2021 Jul 19. doi: 10.1186/s13023-021-01950-x

PMCID:: PMC8287797

Article PDF–3.2M

Select item 69048332.

Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy

Sridhar Selvaraj, Neha R. Dhoke, James Kiley, Alba Judith Mateos-Aierdi, Sudheer Tungtur, Ricardo Mondragon-Gonzalez, Grace Killeen, Vanessa K.P. Oliveira, Adolfo López de Munain, Rita C.R. Perlingeiro

Mol Ther. 2019 Dec 4; 27(12): 2147–2157. Published online 2019 Aug 28. doi: 10.1016/j.ymthe.2019.08.011

PMCID:: PMC6904833

Article PDF–2.6M

Select item 67774633.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Lisa G. Riley, Leigh B. Waddell, Roula Ghaoui, Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Himanshu Joshi, Min-Xia Wang, Susan Brammah, Leonard Kritharides, Alastair Corbett, Daniel G. MacArthur, Sandra T. Cooper

Eur J Hum Genet. 2019 Aug; 27(8): 1267–1273. Published online 2019 Apr 25. doi: 10.1038/s41431-019-0393-6

PMCID:: PMC6777463

Article PDF–5.9M

Select item 59056334.

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy

Irina Kramerova, Jorge A Torres, Ascia Eskin, Stanley F Nelson, Melissa J Spencer

Hum Mol Genet. 2018 May 1; 27(9): 1642–1653. Published online 2018 Mar 8. doi: 10.1093/hmg/ddy071

PMCID:: PMC5905633

Article PDF–745K

Select item 58861775.

Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D

Marcello Carotti, Justine Marsolier, Michela Soardi, Elisa Bianchini, Chiara Gomiero, Chiara Fecchio, Sara F Henriques, Romeo Betto, Roberta Sacchetto, Isabelle Richard, Dorianna Sandonà

Hum Mol Genet. 2018 Mar 15; 27(6): 969–984. Published online 2018 Jan 16. doi: 10.1093/hmg/ddy013

PMCID:: PMC5886177

Article PDF–912K

Select item 28589356.

Phenotypic variability in siblings with Calpainopathy (LGMD2A)

J Schessl, MC Walter, G Schreiber, U Schara, CR Müller, H Lochmüller, CG Bönnemann, R Korinthenberg, J Kirschner

Acta Myol. 2008 Oct; 27(2): 54–58.

PMCID:: PMC2858935

Article PDF–196K

Select item 25925117.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Montse Olivé, Alexey Shatunov, Laura Gonzalez, Olga Carmona, Dolores Moreno, Lidia Gonzalez Quereda, J.A. Martinez-Matos, Lev G. Goldfarb, Isidro Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 929–933. Published online 2008 Oct 22. doi: 10.1016/j.nmd.2008.07.009

PMCID:: PMC2592511

Article PDF–585K

Select item 22446478.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Neurogenetics. Author manuscript; available in PMC 2008 Feb 20.

Published in final edited form as: Neurogenetics. 2004 Feb; 5(1): 27–34. Published online 2003 Dec 2. doi: 10.1007/s10048-003-0165-9

PMCID:: PMC2244647

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