Results 71 to 80 of about 7,259,281 (171)

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, Volume 111, Issue 7, Page 3357-3380, 1 July 2026.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

Dismantling Limb-Girdle Muscular Dystrophy [PDF]

, 2017
Muscular dystrophy encompasses a diverse group of genetically determined muscle disorders. The first clinical description of the disorder is attributed to Giovanni Semmola, who, in 1829, described 2 boys affected by a disorder with prominent muscular ...
Narayanaswami, Pushpa
core   +1 more source

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene [PDF]

, 2017
How to Cite This Article: Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol. Summer 2017; 11(3):57-60.
HASHEMI-GORJI, Feyzollah, FARDAEI, Majid, GHAFOURI-FARD, Soudeh, MIRYOUNESI, Mohammad   +3 more
core   +1 more source

Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone, Cedric R. Lamboley, Taylor Dick, Aldo Meizoso‐Huesca, Daniel P. Singh, Bradley S. Launikonis   +5 more
wiley   +1 more source

Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen   +8 more
wiley   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

, 2022
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT).
Annamaria Cerantonio, Francesca Cavalcanti, Patrizia Spadafora, Olivier Gallo, Spadafora, Patrizia, Gallo, Olivier, Luigi Citrigno, Selene De Benedittis, Qualtieri, Antonio, Cavalcanti, Francesca, Antonio Qualtieri, Cerantonio, Annamaria, Di Palma, Gemma, Gemma Di Palma, De Benedittis, Selene, Citrigno, Luigi   +15 more
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Folia Neuropathologica, 2014
Dysferlinopathies are rare disorders of muscle that present two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness.
S. Szymańska, D. Rokicki, A. Karkucińska-Więckowska, T. Szymańska-Dębińska, E. Ciara, R. Płoski, W. Grajkowska, M. Pronicki   +7 more
semanticscholar   +1 more source