Results 31 to 40 of about 1,629 (185)

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. [PDF]

J Neuromuscul Dis
\ua9 2024 – The authors. Published by IOS Press.Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance.
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.   +21 more
europepmc   +3 more sources

GNE Myopathy: Rare Muscle Weakness Disease

Synthesis: A Digital Journal of Student Science Communication
GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core   +2 more sources

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre. [PDF]

J Cell Mol Med, 2021
Zhang KY, Duan HQ, Li QX, Luo YB, Bi FF, Huang K, Yang H.   +6 more
europepmc   +2 more sources

Autophagy in GNE Myopathy [PDF]

, 2013
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Cho, Anna, Noguchi, Satoru
core   +5 more sources

Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. [PDF]

Neurology, 2021
To characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).Skeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR ...
Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N.   +9 more
europepmc   +4 more sources

Genetic and Clinical Spectrum of GNE Myopathy in Russia. [PDF]

Genes (Basel), 2022
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S.   +16 more
europepmc   +3 more sources

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne, Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Avi Harazi, Stella Mitrani-Rosenbaum, Alon Daya   +7 more
doaj   +1 more source

Myopathie GNE : [PDF]

médecine/sciences, 2017
Malgre un essai de phase II prometteur, l’acide sialique a liberation prolongee n’a pas confirme son efficacite sur une plus large population de patients. Une deception certaine, mais d’autres pistes therapeutiques restent ouvertes comme evoque lors des 23e Journees Neuromusculaires a Marseille les 6 et 7 septembre derniers.
Sylvie Marion, Anthony Béhin, Shahram Attarian   +2 more
openaire   +1 more source

In vivo and in vitro genome editing to explore GNE functions

Frontiers in Genome Editing, 2022
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum   +6 more
doaj   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source