Results 11 to 20 of about 417 (116)

The proteomic profile of hereditary inclusion body myopathy. [PDF]

PLoS ONE, 2011
Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown.
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Zohar Argov, Hannah Ben-Bassat, Stella Mitrani-Rosenbaum   +7 more
doaj   +2 more sources

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

Therapeutic Advances in Neurological Disorders, 2010
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults.
May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino   +2 more
doaj   +2 more sources

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

PLoS ONE, 2008
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum   +7 more
doaj   +3 more sources

Hereditary Inclusion Body Myopathy

Pediatric Neurology Briefs, 1998
A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital,
J Gordon Millichap
doaj   +2 more sources

Characterization of Cellular Heterogeneity and an Immune Subpopulation of Human Megakaryocytes. [PDF]

Adv Sci (Weinh), 2021
By performing single‐cell transcriptomic analysis of human megakaryocytes from native bone marrow, the megakaryocyte heterogeneity is revealed, an immune subpopulation marked by CD148 and CD48 is discovered, and the potential function of immune megakaryocytes as immune‐surveillance cells is elucidated.
Liu C, Wu D, Xia M, Li M, Sun Z, Shen B, Liu Y, Jiang E, Wang H, Su P, Shi L, Xiao Z, Zhu X, Zhou W, Wang Q, Gao X, Cheng T, Zhou J.   +17 more
europepmc   +2 more sources

Developments in Nanopatterning of Graphene; Toward Direct Writing. [PDF]

Adv Mater
Overview of principal direct‐write graphene patterning methodologies including focused electron beam induced deposition (FEBID), laser induced graphitisation (LIG), focused ion beam (FIB), scanning tunneling microscopy (STM) and atomic force microscopy (AFM) Abstract Graphene, with its exceptional electronic, mechanical, and thermal properties, remains
Abrahamczyk S, Sakreida O, Bachmatiuk A, Martynková GS, Rümmeli MH.   +4 more
europepmc   +2 more sources

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
European Journal of Neurology, Volume 32, Issue 7, July 2025.
Naddaf E.
europepmc   +2 more sources

Anti-Valosin-Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies. [PDF]

ACR Open Rheumatol, 2023
Objective The rationale for this study was based on reports that valosin‐containing protein (VCP) mutations are found in hereditary inclusion body myositis (IBM) and VCP was detected in rimmed vacuoles of sporadic IBM (sIBM) muscle biopsies. Autoantibodies to VCP have not been reported in sIBM or other inflammatory myopathies (IIMs).
Amlani A, Choi MY, Buhler KA, Hudson M, Tarnopolsky M, Brady L, Schmeling H, Swain MG, Stingl C, Reed A, Fritzler MJ.   +10 more
europepmc   +2 more sources

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. [PDF]

Mol Genet Genomic Med, 2021
There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 ...
Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J.   +11 more
europepmc   +2 more sources

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. [PDF]

Ann Clin Transl Neurol, 2022
Abstract Objective Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and multisystem proteinopathy.
Johari M, Papadimas G, Papadopoulos C, Xirou S, Kanavaki A, Chrysanthou-Piterou M, Rusanen S, Savarese M, Hackman P, Udd B.   +9 more
europepmc   +2 more sources