Results 61 to 70 of about 43,935 (132)

[Sarcoid Peripheral Neuropathy and Myopathy: A Diagnostic and Therapeutic Challenge].

Sarcoidosis is an idiopathic granulomatous multi-organ disease, primarily affecting the respiratory system, eyes, and skin, with less involvement in peripheral neurons and muscles.
Fujisawa, Miwako
core   +1 more source

The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases. [PDF]

Cells
Avdonina ED, Kutsev SI, Shestopalov AV.
europepmc   +1 more source

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy. [PDF]

Hum Genome Var
Toide N, Iwase R, Yanagidaira M, Togi S, Ura H, Egawa M, Takamine E, Kuwahara H, Misawa S, Yoshida M, Niida Y, Ishiguro T.   +11 more
europepmc   +1 more source

Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy. [PDF]

Cells
García-Rubio A, De Los Santos JS, Izquierdo JM.   +2 more
europepmc   +1 more source

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study. [PDF]

BMC Musculoskelet Disord
Deng J, Wang N, Wu Y, Hao Z, Wu H, Ma S, Liu J, Ji G, Song X.   +8 more
europepmc   +1 more source

The NORAD-Pumilio regulatory axis in the evolution of inclusion body myositis. [PDF]

J Neuropathol Exp Neurol
Tong L, Ozes B, Moss K, Myers M, Hornung A, Showalter E, Chornyy S, Mendell JT, Sahenk Z.   +8 more
europepmc   +1 more source

Alternative Dosing Strategies to Enhance the Absorption of N-Acetyl-D-Mannosamine Monohydrate (ManNAc) in Healthy Adult Males. [PDF]

Clin Drug Investig
Meola TR, La Fontaine K, Condon J, Wabnitz P, Fornasini G, Evans AM, Reuter SE.   +6 more
europepmc   +1 more source

GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects. [PDF]

J Clin Med
Mitrani-Rosenbaum S, Argov Z.
europepmc   +1 more source

Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies. [PDF]

Int J Mol Sci
Soule TGB, Slavin MB, Pontifex CS, Dabaja MZ, Melnyk A, Dufour A, Dumont NA, Shutt TE, Pfeffer G.   +8 more
europepmc   +1 more source

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy. [PDF]

Ann Indian Acad Neurol
Kiyan E, Pihtili A, Durmus H, Parman Y.
europepmc   +1 more source