Results 71 to 80 of about 43,935 (132)

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies. [PDF]

J Neuromuscul Dis
Subbotin D, Borovikov A, Kuchina A, Sharkova I, Vlasenko A, Rudenskaya G, Nikitin S, Gilvanova O, Degterev D, Druzhinin D, Druzhinina E, Grishina D, Dadali E, Marakhonov A, Chausova P, Fomenko S, Ryzhkova O, Shchagina O, Kutsev S, Murtazina A.   +19 more
europepmc   +1 more source

Preclinical assessment of GNE^wt/bi-shRNA-GNE^M743T lipoplex product development for GNE myopathy. [PDF]

Future Sci OA
Kerneis F, Jay CM, Rao D, Winchester J, Nemunaitis A, Nemunaitis E, Bognar E, Wallraven G, Stanbery L, Walter A, Sarshar S, Nemunaitis J.   +11 more
europepmc   +1 more source

Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report. [PDF]

Case Rep Neurol
Chandra Kuri D, Losy SA, Sarkar MSR, Mondal MBA.   +3 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Nutritional interventions and dietary supplements in muscle diseases: a systematic review. [PDF]

Rheumatology (Oxford)
Talreja T, Vedantam D, Bandarupalli P, Nagendra L, Salis S, Cheng K, Liewluck T, Lupeika D, MacLean A, Gupta L.   +9 more
europepmc   +1 more source

Reply to: "Before Coming to the Conclusion That Inclusion Body Myositis Is a Risk Factor for a Heart Attack, All Influencing Factors Must Be Taken Into Account". [PDF]

Eur J Neurol
Naddaf E.
europepmc   +1 more source

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +1 more source

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. [PDF]

J Med Case Rep
Saleem S, Akbar F, Kirmani S, Khalid E, Khan S.   +4 more
europepmc   +1 more source

Defective autophagy in GNE myopathy is rescued by inhibition of noncanonical Akt-mTORC1 activation across multiple isogenic models. [PDF]

Exp Mol Med
Kim DW, Kwon EJ, Kwon H, Kim J, Cha HJ.
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source