Results 71 to 80 of about 417 (116)

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

The determination of muscle wasting and litter sizes in the M712T animal model

, 2013
Includes bibliographical references (pages 48-53)Hereditary Inclusion Body Myopathy (HIBM) is a homozygous recessive disorder characterized by the M712T mutation.
Thomas, Daniel Franklin
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The Synthesis of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase (GNE), α-dystroglycan, and β-galactoside α-2,3-sialyltransferase 6 (ST3Gal6) By Skeletal Muscle Cell As a Response To Infection with Trichinella Spiralis. [PDF]

Helminthologia, 2022
Milcheva R, Todorova K, Georgieva A, Petkova S.   +3 more
europepmc   +1 more source

Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders. [PDF]

Cell Commun Signal
Liu C, Lu Y, Zheng H, Duan S, Zhang H, Zhang Y, Liu H, Luo H, Xu Y.   +8 more
europepmc   +1 more source

Safety of co-administration of injectable vaccines in individuals under 18 years of age: A systematic literature review. [PDF]

Hum Vaccin Immunother
Boccalini S, Del Riccio M, Crescioli G, Salvati C, Sadotti A, Cacini C, Cerini G, Iamarino JA, Ionita G, Stancanelli E, Albora G, Bonanni P, Vannacci A, Bechini A.   +13 more
europepmc   +1 more source

Comprehensive multi-cohort transcriptional meta-analysis of muscle diseases identifies a signature of disease severity. [PDF]

Sci Rep, 2022
Walsh CJ, Batt J, Herridge MS, Mathur S, Bader GD, Hu P, Khatri P, Dos Santos CC.   +7 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

Exome sequencing identifies novel and known mutations in families with intellectual disability. [PDF]

BMC Med Genomics, 2021
Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M.   +8 more
europepmc   +1 more source

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy. [PDF]

Int J Mol Sci
Piga D, Zanotti S, Ripolone M, Napoli L, Ciscato P, Gibertini S, Maggi L, Fortunato F, Rigamonti A, Ronchi D, Comi GP, Corti S, Sciacco M.   +12 more
europepmc   +1 more source

Production of sialic acid affected by GNE gene mutations

, 2012
Includes bibliographical references (pages 57-63)Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive disorder characterized by adult onset muscle-wasting, affecting both proximal and distal muscles.
Rajaei, Atefeh
core