Results 71 to 80 of about 1,979 (203)

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. [PDF]

, 2013
International audienceCentral core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We
Beley, Cyriaque, Brocard, Julie, Denarier, Eric, Fauré, Julien, Fourest-Lieuvin, Anne, Garcia, Luis, Gilbert-Dussardier, Brigitte, Lunardi, Joël, Marty, Isabelle, Monnier, Nicole, Perez, Marie José, Piétri-Rouxel, France, Rendu, John, Romero, Norma, Roux-Buisson, Nathalie   +14 more
core   +3 more sources

Plasticity of the Muscle Stem Cell Microenvironment [PDF]

, 2017
Satellite cells (SCs) are adult muscle stem cells capable of repairing damaged and creating new muscle tissue throughout life. Their functionality is tightly controlled by a microenvironment composed of a wide variety of factors, such as numerous ...
A Birbrair, A Birbrair, A Castiglioni, A Mauro, A Mohyeldin, A Philippou, A Polesskaya, A Sacco, A Sacco, A Troy, A Uezumi, A Urciuolo, A Wagatsuma, AE Almada, AE Emery, AH Tang, AJ Engler, AL Serrano, AM Kelly, AS Brack, AW Joe, B Deng, B Geiger, B Péault, BD Cosgrove, BH Goodpaster, BM Carlson, BM Sicari, C Christov, C Clow, C Elabd, C Handschin, C Jiang, C Lepper, C Sonnet, CA Collins, CF Bentzinger, CF Bentzinger, CF Bentzinger, CJ Mann, CRR Bjornson, CS Young, CW Guérin, D Burzyn, D Haralampieva, D Haralampieva, D Huh, D Montarras, D Shvartsman, DD Cornelison, DR Lemos, E Fink, FD Price, G Pallafacchina, G Shefer, GL Warren, H Liu, H Yin, I Dinulovic, I Dinulovic, I Janssen, I Sinha-Hikim, IM Conboy, IM Conboy, J Lin, J Menetrey, J Oh, JA Faulkner, JD Bernet, JD Rosenblatt, JE Heredia, JG Ryall, JI Jones, JJ McCarthy, JL Elster, JM Wilson, JR Mendell, JR Sanes, JT Rodgers, JV Chakkalakal, JV Chakkalakal, K Thomas, KJ Boonen, KR Wagner, L Arnold, L Garcia-Prat, L Larsson, L Lukjanenko, L Madden, LC Ceafalan, M Brigitte, M Cerletti, M Kottlors, M Quarta, M Rozo, M Sampaolesi, M Sampaolesi, M Segawa, M Sinha, M Summan, M Yamaguchi, MA Egerman, MC Gibson, ME Carlson, MJ Schafer, MM Murphy, MT Tierney, MZ Ratajczak, N Arsic, N Bursac, NA Dumont, NC Chang, O Griesbeck, O Ochoa, P Mourikis, P Rocheteau, P Scapini, P Sousa-Victor, PM Gilbert, R Abou-Khalil, R Berria, R Fadic, R Furrer, R Kuschel, R Mounier, R Sambasivan, R Tatsumi, R Tatsumi, RG Walker, RJ Fairclough, RP Rhoads, S Biressi, S Fukada, S Kuang, S McCroskery, SC Harper, SE Berry, SS Jejurikar, T Pretheeban, T Snijders, V Dubois, V Kovanen, W Liu, WE Blanco-Bose, X Fu, Y Ono, Y Wang, YC Jang, YH Chiu, YK Hayashi, YV Fedorov, Z Qu-Petersen   +151 more
core   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Becker, J, Gardiner, AR, Holton, JL, Houlden, H, Jungbluth, H, Pitceathly, RD, Quinlivan, R, Scalco, RS, Zanoteli, E   +8 more
core   +4 more sources

Expanding the muscle imaging spectrum in dysferlinopathy: Description of an outlier population from the classical MRI pattern [PDF]

, 2023
Dysferlinopathy is a muscle disease characterized by a variable clinical presentation and is caused by mutations in the DYSF gene. The Jain Clinical Outcome Study for Dysferlinopathy (COS) followed the largest cohort of patients (n=187) with genetically ...
et al.,, Llansó, Laura, Pestronk, Alan
core   +2 more sources

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
doaj   +1 more source

The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]

, 2006
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue.
James E. Galvin, Divya Palamand, Jeff Strider, Margherita Milone, Alan Pestronk, M Aoki, V Askanas, D Bansal, D Bansal, R Bashir, S Britton, B Caughey, G Cenacchi, DB Davis, B Dermaut, KR Doherty, JE Galvin, JE Galvin, JE Galvin, JE Galvin, JE Galvin, M Goedert, YK Hayashi, M Ho, M Ho, EP Hoffman, PJ Holzfeind, I Illa, Y Ling, G McKhann, JC Morris, S Salani, MC Sharma, MG Spillantini, S Yasunaga   +34 more
core   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]

, 2013
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S, Caccia R, CORONA, Davide, Gabellini D., Godio C, Neguembor MV, Onorati MC, Pistoni M, Schotta G, Xynos A   +9 more
core   +1 more source

Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD

NMR in Biomedicine, Volume 39, Issue 6, June 2026.
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls, K. J. Naarding, M. van der Holst, N. Geijsen, E. H. Niks, H. E. Kan   +5 more
wiley   +1 more source