Results 91 to 100 of about 1,995 (205)
Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]
, 2012 Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah +4 more
core +1 more source
Myotilin gene duplication causing late‐onset myotilinopathy
European Journal of Neurology, Volume 32, Issue 1, January 2025.Abstract Background myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration.
Marco Spinazzi +9 more
wiley +1 more source
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
Case Reports in Neurology, 2014 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon +5 more
doaj +1 more source
Treatment for inclusion body myositis [PDF]
, 2015 Background Inclusion body myositis (IBM) is a late-onset inflammatory muscle disease (myopathy) associated with progressive proximal and distal limb muscle atrophy and weakness.
Brassington, Ruth +7 more
core +2 more sources
RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation
Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa +2 more
wiley +1 more source
Panorama of the distal myopathies [PDF]
, 2020 Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the histological ...
Hackman, P. +8 more
core +1 more source
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy [PDF]
, 2022 Wakako Yoshioka +16 more
openalex +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.ABSTRACT Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle
Hui Wang +3 more
wiley +1 more source
GNE Myopathy with Congenital Thrombocytopenia [PDF]
, 2018 GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy.
김세훈 +4 more
core
Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women
Clinical Pharmacology in Drug Development, Volume 13, Issue 8, Page 876-883, August 2024.Abstract N‐Acetyl‐D‐mannosamine (ManNAc) is an endogenous monosaccharide and precursor of N‐acetylneuraminic acid (Neu5Ac), a critical sialic acid. ManNAc is currently under clinical development to treat GNE myopathy, a rare muscle‐wasting disease. In this randomized, open‐label, 2‐sequence, crossover study, 16 healthy women and men were administered a
Allan M. Evans +6 more
wiley +1 more source