Results 61 to 70 of about 1,629 (185)

GNE myopathy: New name and new mutation nomenclature [PDF]

Neuromuscular Disorders, 2014
The recessively inherited, adult onset, quadriceps sparing myopathy with a predilection for distal muscles has received multiple historic names. The disorder was described in 1981 in Japanese patients and termed Nonaka Distal Myopathy [1], later commonly referred to as Distal Myopathy with Rimmed Vacuoles (DMRV) (OMIM#605820). In 1984, the disorder was
Marjan, Huizing, Nuria, Carrillo-Carrasco, May Christine V, Malicdan, Satoru, Noguchi, William A, Gahl, Stella, Mitrani-Rosenbaum, Zohar, Argov, Ichizo, Nishino   +7 more
openaire   +2 more sources

Absolute bioavailability and intravenous pharmacokinetics of N‐acetyl‐D‐mannosamine in humans

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 488-494, February 2026.
Aims N‐acetyl‐D‐mannosamine monohydrate (ManNAc) is a naturally occurring monosaccharide that has attracted considerable attention for its potential in treating GNE myopathy, a rare autosomal recessive muscle disorder. Despite its promise as an oral treatment, the absolute bioavailability of oral ManNAc has not been determined and there has been no ...
Tahlia R. Meola, Guy Ludbrook, Gianfranco Fornasini, Olga Pavlova, Sumit Jain, Allan M. Evans, Stephanie E. Reuter   +6 more
wiley   +1 more source

Die C57BL/6 GNE+/-Maus als Modell für die hereditäre Einschlusskörpermyopathie Typ 2 (h-IBM2) [PDF]

, 2016
Die folgende Arbeit befasst sich mit der Fragestellung, ob das von Schwarzkopf et al. generierte GNE+/- Mausmodell ein Modell für die Einschlusskörpermyopathie (GNE Myoptahie) darstellen kann.
Großmann, Mona
core   +1 more source

Metabolism‐Regulating Nanomedicines for Cancer Therapy

Advanced NanoBiomed Research, Volume 6, Issue 1, January 2026.
This review highlights metabolism‐regulating nanomedicines designed to target glycolytic, lipid, amino acid, and nucleotide pathways in tumors. By incorporating metabolism‐regulating agents into versatile nanocarriers such as liposomes, micelles, dendrimers, and engineered bacteria, these platforms achieve targeted delivery, controlled release ...
Xiao Wu, Shiyi Geng, Jian Yang
wiley   +1 more source

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

PLoS ONE, 2008
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum   +7 more
doaj   +1 more source

GNE Myopathy with Prominent Axial Muscle Involvement. [PDF]

J Clin Neurol, 2018
Park JM, Shin JH, Park JS.
europepmc   +3 more sources

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 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.
박형준, 신하영, 최영철
core   +1 more source

Variability of Water T2 Times in Quantitative Muscle MRI: Considerations and Methodological Factors—A Narrative Review

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Quantitative muscle imaging (qMRI) is an established method for detecting muscular changes, particularly in the diagnosis and follow‐up of conditions as muscular injuries and neuromuscular diseases. While global T2 reflects all tissue components and cannot reliably indicate disease activity in fat‐replaced muscles, water T2 times (wT2) can ...
Johanna Thomä, Lionel Butry, Johannes Forsting, Martijn Froeling, Lara Schlaffke   +4 more
wiley   +1 more source

Novel missense variants associated with GNE myopathy

Neuromuscular Disorders
GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups. It is an autosomal recessive disease, caused by biallelic variants in GNE.
Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +2 more sources