Results 71 to 80 of about 26,442 (131)

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, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi   +5 more
doaj   +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, Marco Savarese, Franck Letournel, Lydia Sagath, Florence Manero, Agnès Guichet, Alexander Hoischen, Corinne Metay, Julien Gouju, Bjarne Udd   +9 more
wiley   +1 more source

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, Malte Kornhuber, Dominic B. Fee   +2 more
wiley   +1 more source

Cell stress molecules in the skeletal muscle of GNE myopathy [PDF]

, 2013
Background: Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In sporadic inclusion body myositis
Arne Wrede, Ichizo Nishino, Wrede, Arne, Muth, Ingrid E., Schmidt, Jens, Konstanze Kleinschnitz, Jens Schmidt, Nishino, Ichizo, Kruse, Niels, Charlotte Fischer, Kleinschnitz, Konstanze, Fischer, Charlotte, Niels Kruse, Ingrid Muth   +13 more
core   +2 more sources

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures

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, Ting Zhang, Yanming Xu, Wenhui Fan   +3 more
wiley   +1 more source

Immunofluorescence shows AβPP and p-tau aggregates and molecule chaperones in GNE myopathy muscle.

, 2013
Single-label immunofluorescence illustrates strongly immunoreactive aggregates of AβPP (a1) in GNE myopathy, nonspecific staining in muscle interstitial of normal control (a2), aggregates of p-tau (a3) in GNE myopathy and nonspecific staining in muscle ...
Shuping Liu (385280), Wei Li (7081), Chuanzhu Yan (385282), Xuemei Zhang (89768), Fuchen Liu (385279), Qi Chen (144168), Yuying Zhao (385281), Honghao Li (385278), Yaoqin Gong (164943)   +8 more
core   +1 more source

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +1 more source

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, Gianfranco Fornasini, Tahlia R. Meola, William A. Gahl, Marjan Huizing, Thomas M. Polasek, Stephanie E. Reuter   +6 more
wiley   +1 more source

Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy [PDF]

, 2013
PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs.
최영철, 박형준, 신하영
core   +1 more source

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +1 more source