Results 51 to 60 of about 466 (135)
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz +58 more
wiley +1 more source
Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison +9 more
wiley +1 more source
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Frontiers in Neurology, 2020 Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty +18 more
doaj +1 more source
The N‐Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3
Muscle &Nerve, Volume 71, Issue 3, Page 442-445, March 2025.ABSTRACT Introduction A 20 kDa fragment at the N‐terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N‐terminal fragment is presumed to be a product of degradation by a protein‐degrading enzyme, calpain 3; however, whether calpain 3 is ...
Yoshinori Nambu +13 more
wiley +1 more source
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy
BMC Neurology, 2018 Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta +3 more
doaj +1 more source
Gene therapy for genetic diseases: challenges and future directions
MedComm, Volume 6, Issue 2, February 2025.The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie +4 more
wiley +1 more source
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 [PDF]
Muscle & Nerve, 2017 ABSTRACTIntroduction: A calpain‐3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb‐girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. Methods: Probands heterozygous for CAPN3 c.643_663del21
Jennifer M, Martinez-Thompson +6 more
openaire +2 more sources
Animal Science Journal, Volume 96, Issue 1, January/December 2025.ABSTRACT Skeletal muscle regeneration is a complex process that requires coordinated interactions between myogenic and vascular cells. Chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface proteoglycan, had been shown to be expressed around immature myofibers in patients with Duchenne muscular dystrophy, suggesting its role in muscle regeneration.
Riku Yamaguchi +10 more
wiley +1 more source
A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy
Rinsho Shinkeigaku, 2008 We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Shirafuji, Toshihiko +6 more
openaire +2 more sources
NMR in Biomedicine, Volume 37, Issue 10, October 2024.In a prospective longitudinal study of 13 LGMDR1 patients and age‐matched controls, clinical assessments, including clinical testing of muscle strength, patient questionnaires, and gait analysis, revealed significant deteriorations in ACTIVLIM, QMFM, and 10‐MWT over one year.
Johannes Forsting +11 more
wiley +1 more source