PMC Articles for MedGen (Select 461766) - PMC

Monia Souidi, Jessica Resta, Haikel Dridi, Yvonne Sleiman, Steve Reiken, Karina Formoso, Sarah Colombani, Pascal Amédro, Pierre Meyer, Azzouz Charrabi, Marie Vincenti, Yang Liu, Rajesh Kumar Soni, Frank Lezoualc'h, D.V.M. Stéphane Blot, François Rivier, Olivier Cazorla, Angelo Parini, Andrew R. Marks, Jeanne Mialet‐Perez, Alain Lacampagne, Albano C. Meli

J Cachexia Sarcopenia Muscle. 2024 Apr; 15(2): 536–551. Published online 2024 Jan 14. doi: 10.1002/jcsm.13411

PMCID:: PMC10995256

Abstract Article PDF–5.7M

Select item 109414445.

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo

BMC Pediatr. 2024; 24: 182. Published online 2024 Mar 15. doi: 10.1186/s12887-024-04674-6

PMCID:: PMC10941444

Abstract Article PDF–1.7M

Select item 109309316.

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

Vittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, Luciano Merlini, Manuela Antoniel, Stefano Squarzoni, Simona Neri, Spartaco Santi, Samuele Metti, Paolo Bonaldo, Cesare Faldini

Cells. 2024 Mar; 13(5): 378. Published online 2024 Feb 22. doi: 10.3390/cells13050378

PMCID:: PMC10930931

Abstract Article PDF–2.3M

Select item 109299727.

POMT1和POMT2基因突变导致的2例α-抗肌萎缩相关糖蛋白病

甘思仪, 杨海燕, 肖婷, 潘邹, 吴丽文

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Aug 28; 46(8): 915–919. Chinese. doi: 10.11817/j.issn.1672-7347.2021.200067

PMCID:: PMC10929972

Abstract Article PDF–798K

Select item 109094458.

Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations

Alexander Sonne, Anna Katarina Antonovic, Elise Melhedegaard, Fariha Akter, Jesper L. Andersen, Heinz Jungbluth, Nanna Witting, John Vissing, Edmar Zanoteli, Arianna Fornili, Julien Ochala

Acta Physiol (Oxf) 2023 Oct; 239(2): e14035. Published online 2023 Aug 21. doi: 10.1111/apha.14035

PMCID:: PMC10909445

Abstract Article PDF–11M

Select item 108833279.

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation

Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri

Acta Myol. 2023; 42(4): 106–112. Published online 2023 Dec 31. doi: 10.36185/2532-1900-391

PMCID:: PMC10883327

Abstract Article PDF–1.3M

Select item 1087433710.

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center

Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqian

Acta Neurol Belg. 2024; 124(1): 91–99. Published online 2023 Jul 31. doi: 10.1007/s13760-023-02333-8

PMCID:: PMC10874337

Abstract Article PDF–933K

Select item 1087352511.

Shaping transverse-tubules: central mechanisms that play a role in the cytosol zoning for muscle contraction

Kohei Kawaguchi, Naonobu Fujita

J Biochem. 2024 Feb; 175(2): 125–131. Published online 2023 Oct 17. doi: 10.1093/jb/mvad083

PMCID:: PMC10873525

Abstract Article PDF–816K

Select item 1081511112.

Comprehensive Analysis of the Complete Mitochondrial Genome of Rehmannia chingii: An Autotrophic Species in the Orobanchaceae Family

Ying Han, Yan-Lei Feng, Jie Wang, Shan-Shan Zhu, Xin-Jie Jin, Zhi-Qiang Wu, Yong-Hua Zhang

Genes (Basel) 2024 Jan; 15(1): 98. Published online 2024 Jan 15. doi: 10.3390/genes15010098

PMCID:: PMC10815111

Abstract Article PDF–4.1M

Select item 1078936613.

‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’

Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, Daniele Frattini, Alberta Leon, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Francesco Pisani, Carlo Fusco

J Neuromuscul Dis. 2024; 11(1): 213–219. Prepublished online 2023 Dec 18. Published online 2024 Jan 2. doi: 10.3233/JND-230110

PMCID:: PMC10789366

Abstract Article PDF–436K

Select item 1072169514.

MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders

Nahla O. Mousa, Ahmed Abdellatif, Nagia Fahmy, Hassan El-Fawal, Ahmed Osman

Neuromolecular Med. 2023; 25(4): 603–615. Published online 2023 Oct 19. doi: 10.1007/s12017-023-08763-0

PMCID:: PMC10721695

Abstract Article PDF–1.3M

Select item 1071316315.

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report

Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, Kai Jiang

Medicine (Baltimore) 2023 Dec 8; 102(49): e36398. Published online 2023 Dec 8. doi: 10.1097/MD.0000000000036398

PMCID:: PMC10713163

Abstract Article PDF–508K

Select item 1070456716.

Lipodystrophy for the Diabetologist—What to Look For

Nivedita Patni, Abhimanyu Garg

Curr Diab Rep. Author manuscript; available in PMC 2023 Dec 8.

Published in final edited form as: Curr Diab Rep. 2022 Sep; 22(9): 461–470. Published online 2022 Jul 11. doi: 10.1007/s11892-022-01485-w

PMCID:: PMC10704567

Abstract Article PDF–410K

Select item 1069568117.

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis

Ilaria Cocchiararo, Olivia Cattaneo, Jayasimman Rajendran, Florent Chabry, Mélanie Cornut, Hadrien Soldati, Anne Bigot, Kamel Mamchaoui, Sara Gibertini, Axelle Bouche, Daniel J Ham, Thomas Laumonier, Alexandre Prola, Perrine Castets

Hum Mol Genet. 2023 Dec 15; 32(24): 3374–3389. Published online 2023 Sep 26. doi: 10.1093/hmg/ddad164

PMCID:: PMC10695681

Abstract Article PDF–3.2M

Select item 1064556518.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Annelise Y. Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie F. Smeland, Marc Planes, Kevin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A. Mensah, Henrike L. Sczakiel, Heidelis Tichy, Sarah Verheyen, Jasmin Blatterer, Elisabeth Schreiner, Jenny Thies, Christina Lam, Christine G. Spaeth, Loren Pena, Keri Ramsey, Vinodh Narayanan, Laurie H. Seaver, Diana Rodriguez, Alexandra Afenjar, Lydie Burglen, Edward B. Lee, Tsui-Fen Chou, Conrad C. Weihl, Marwan S. Shinawi

Am J Hum Genet. 2023 Nov 2; 110(11): 1959–1975. Published online 2023 Oct 25. doi: 10.1016/j.ajhg.2023.10.007

PMCID:: PMC10645565

Abstract Article PDF–3.4M

Select item 1062909519.

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy

Matthias R. Lambert, Emanuela Gussoni

Skelet Muscle. 2023; 13: 18. Published online 2023 Nov 7. doi: 10.1186/s13395-023-00327-x

PMCID:: PMC10629095

Abstract Article PDF–3.1M

Select item 1054552520.

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy

Quentin Giraud, Coralie Spiegelhalter, Nadia Messaddeq, Jocelyn Laporte

Brain. 2023 Oct; 146(10): 4158–4173. Published online 2023 Jul 25. doi: 10.1093/brain/awad251

PMCID:: PMC10545525

Abstract Article PDF–1.9M

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