Results 91 to 100 of about 2,944 (151)

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression. [PDF]

Cells
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R.   +4 more
europepmc   +1 more source

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population. [PDF]

Orphanet J Rare Dis
Xing Y, Zhao L, Zhao R, Liu Q, Wang J, Wang L, Zhang W, Guo J, Zhao R, Chang X.   +9 more
europepmc   +1 more source

<i>GNE</i>-related severe congenital macro-thrombocytopenia in pregnancy. [PDF]

Obstet Med
P S, Pegu B, Subbaiah M, D P, Manivannan P, Dorairajan G.   +5 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations [PDF]

, 2004
BARACCA A, DAVIDSON MM., DIMAURO S, HERNANDEZ-ROSA E, LENAZ G, MELZI D'ERIL GV, PALLOTTI F., SCHON EA, SOLAINI G, WALKER WF   +9 more
core  

Absolute bioavailability and intravenous pharmacokinetics of N-acetyl-D-mannosamine in humans. [PDF]

Br J Clin Pharmacol
Meola TR, Ludbrook G, Fornasini G, Pavlova O, Jain S, Evans AM, Reuter SE.   +6 more
europepmc   +1 more source

Quantitative sonographic assessment of muscle thickness and fasciculations distribution is a sensitive tool for neuromuscular disorders. [PDF]

PLoS One, 2023
Abraham A, Fainmesser Y, Drory VE, Bril V.   +3 more
europepmc   +1 more source

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances. [PDF]

Ann Indian Acad Neurol
Yoshioka W, Noguchi S, Nishino I.
europepmc   +1 more source

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance. [PDF]

Mol Med
Singh S, Bansal M, Sharma N, Yadav V, Mashangva F, Oswalia J, Gautam V, Jhingan GD, Subbarao N, Rathi B, Arya R.   +10 more
europepmc   +1 more source

Mitochondriopathien [PDF]

, 1993
Beck, A., Damian, M. S., Gold, R., Janetzky, B., Klopstock, Thomas, Maas, J., Naumann, M., Reichmann, Heinz, Seibel, P.   +8 more
core   +1 more source