Results 131 to 140 of about 1,067 (171)

GNE Myopathy with Prominent Axial Muscle Involvement. [PDF]

J Clin Neurol, 2018
Park JM, Shin JH, Park JS.
europepmc   +1 more source

Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [PDF]

Muscle Nerve, 2018
Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.   +7 more
europepmc   +1 more source

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]

Muscle Nerve, 2019
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M.   +10 more
europepmc   +1 more source

Muscle imaging findings in GNE myopathy

Journal of Neurology, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon ...
Tasca, Giorgio, Ricci, Enzo, Monforte, Mauro, Laschena, F, Ottaviani, Pierfrancesco, Rodolico, C, Barca, E, Silvestri, Gabriella, Iannaccone, Elisabetta, Mirabella, Massimiliano, Broccolini, Aldobrando   +10 more
openaire   +4 more sources

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +3 more sources

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion [PDF]

Neuromuscular Disorders, 2018
\ua9 2017 The Authors. GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms.
Oksana Pogoryelova, Ichizo Nishino, Alison Skrinar   +2 more
exaly   +1 more source

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GNE myopathy in India

Neurology India, 2013
GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathyOver the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases
Atchayaram, Nalini, Narayanappa, Gayathri, Ischizo, Nishino, Yukiko K, Hayashi   +3 more
openaire   +2 more sources

Recent advances in establishing a cure for GNE myopathy

Current Opinion in Neurology, 2022
Purpose of review GNE myopathy is a rare autosomal recessive disease caused by biallelic variants in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. No drugs are approved for the treatment of GNE myopathy.
Wakako, Yoshioka, Ichizo, Nishino, Satoru, Noguchi   +2 more
openaire   +2 more sources