PMC Articles for MedGen (Select 1386785) - PMC

Select item 107514191.

Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou

J Cachexia Sarcopenia Muscle. 2023 Dec; 14(6): 2882–2897. Published online 2023 Nov 15. doi: 10.1002/jcsm.13349

PMCID:: PMC10751419

Article PDF–5.0M

Select item 94298332.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, Liwen Xu, Monkol Lek, Daniel G. MacArthur, Olivera Casar-Borota, Maria Williams, Volker Straub, Carina Wallgren-Pettersson

Neuromuscul Disord. Author manuscript; available in PMC 2022 Aug 31.

Published in final edited form as: Neuromuscul Disord. 2018 Jul; 28(7): 614–618. Published online 2018 May 16. doi: 10.1016/j.nmd.2018.04.012

PMCID:: PMC9429833

Article PDF–1.1M

Select item 80860593.

Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy

Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph, Felix M. Heidrich

Orphanet J Rare Dis. 2021; 16: 194. Published online 2021 Apr 30. doi: 10.1186/s13023-021-01826-0

PMCID:: PMC8086059

Article PDF–804K

Select item 63491514.

Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy

Yi Dai, Shengran Liang, Xue Dong, Yanhuan Zhao, Haitao Ren, Yuzhou Guan, Haifang Yin, Chen Li, Lin Chen, Liying Cui, Santasree Banerjee

J Cell Mol Med. 2019 Feb; 23(2): 811–818. Published online 2018 Nov 18. doi: 10.1111/jcmm.13979

PMCID:: PMC6349151

Article PDF–975K

Select item 57405725.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven

Genome Med. 2017; 9: 118. Published online 2017 Dec 22. doi: 10.1186/s13073-017-0505-2

PMCID:: PMC5740572

Article PDF–1.8M

Select item 54879256.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng

J Cell Mol Med. 2017 Jul; 21(7): 1388–1393. Published online 2017 Feb 3. doi: 10.1111/jcmm.13068

PMCID:: PMC5487925

Article PDF–217K

Select item 44169267.

The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy

Manuela Bozzi, Alberto Cassetta, Sonia Covaceuszach, Maria Giulia Bigotti, Saskia Bannister, Wolfgang Hübner, Francesca Sciandra, Doriano Lamba, Andrea Brancaccio

PLoS One. 2015; 10(5): e0124277. Published online 2015 May 1. doi: 10.1371/journal.pone.0124277