Results 71 to 80 of about 1,438 (185)

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

Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle

Frontiers in Physiology, 2014
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr, Christopher W. Ward, Robert J. Bloch   +2 more
doaj   +1 more source

Magnetic resonance imaging pattern variability in dysferlinopathy

, 2021
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy.
Isaev A.A., Kurbatov S.A., Berezhnaya E.N., Zheleznyak I.S., Titova A.A., Umakhanova Z.R., A Yakovlev I., Nikitin S.S., Bardakov S.N., Tsargush V.A., Deev R.V., Carlier P.G., Akhmedova P.G., Emelyantsev A.A., Magomedova R.M.   +14 more
core  

Beyond the first bout: Adaptations to repeated injuries across physiological and pathological conditions

Physiological Reports, Volume 14, Issue 10, May 2026.
The repeated bout effect (RBE) is an adaptive response to a subsequent injury; muscle physiological or pathological state determines the magnitude and trajectory of strength adaptation. Abstract Skeletal muscle exhibits remarkable plasticity following injury, yet most research has focused on responses to a single bout of eccentric contractions.
Cory W. Baumann, Christopher P. Ingalls, Kazunori Nosaka, Jarrod A. Call   +3 more
wiley   +1 more source

Dysferlinopathy: Clinical aspects in India [PDF]

Neurology India, 2008
Mutations in the dysferlin gene on Chromosome 2p cause dysferlinopathies which include two distinct clinical entities, Miyoshi myopathy (MM) (OMIM no. 254130) and limb girdle muscular dystrophy 2B (LGMD2B) (OMIM no. 253601). They have been diagnosed as different diseases clinically depending on the affected muscles at the onset.
Hattori, Hidenori, Suzuki, Norihiro
openaire   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice

Cell Death and Disease, 2022
Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini, L. Tripodi, C. Villa, F. Napolitano, F. Strati, D. Molinaro, F. Facciotti, B. Cassani, Y. Torrente   +8 more
doaj   +1 more source

Assessment of disease progression in dysferlinopathy: A 1-year cohort study [PDF]

, 2019
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical ...
Praxedes N. S. -A., Cnaan A., Paradas C., Pegoraro E., James M. K., Bello L., Berry K. M., Sakamoto C., Siener C., Mittal P., Hutchence M., Shierbecker J., Vandevelde B., Sanjak M., Ollivier G., Krause S., Canal A., Day J. W., Yajima H., Maron E., Jones K. J., Florence J. M., Rocha C. T., Jacobs M., Bushby K., Harms M., Mendez J. B., Lowes L. P., Carlier P. G., Duong T., Mayhew A. G., Rufibach L. E., Lochmuller H., Bettinson K., Tateishi T., Rose K., Fernandez-Torron R., Lofra R. M., Stojkovic T., Spuler S., Thiele S., Diaz-Manera J., Walter M. C., Hilsden H., Blamire A. M., Gee R., Grieben U., Hogrel J. -Y., Decostre V., Moore U., Sparks S., Semplicini C., Pestronk A., Schreiber-Katz O., Pedrosa-Hernandez I., Feng J., Eagle M., Prugel J., Dewolf B., Montiel-Morillo E., Salort-Campana E., Bharucha-Goebel D. X., Bravver E., Ashida A., Mendell J. R., Straub V., Alfano L., Holsten S., Takeda S., Mori-Yoshimura M.   +69 more
core   +3 more sources

Table_1_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.DOCX

, 2022
BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077), Feng Xiao (27219), Jia-ying Bai (13825660), Chun-yan Zhu (565275), Yan Xie (41714), Li Zeng (77324), Song Tan (798605), Kai Chen (129938)   +7 more
core   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source