Results 21 to 30 of about 828 (162)

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

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

457. Successful Use of Lipoplex for Delivery of the Small Molecules ManNAc and Sialic Acid To Rescue Hyposialylation in a Mouse Model of Hereditary Inclusion Body Myopathy (HIBM) [PDF]

Molecular Therapy, 2011

openalex   +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

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

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj   +1 more source

Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. [PDF]

Front Neurosci, 2018
Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant and occurs in adulthood. Our previous study reported a new
Lu Y, Da YW, Zhang YB, Li XG, Wang M, Di L, Pang M, Lei L.   +7 more
europepmc   +10 more sources

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   +1 more source

The Action of Recombinant Human Lysosomal α-Glucosidase (rhGAA) on Human Liver Glycogen: Pathway to Complete Degradation

International Journal of Translational Medicine, 2021
Glycogen is present in all tissues, but it is primarily stored in the liver and in muscle. As a branched chain carbohydrate, it is broken down by phosphorylase and debrancher enzymes, which are cytoplasmic.
Allen K. Murray
doaj   +1 more source

Unravelling inclusion body myositis using a patient‐derived fibroblast model

Journal of Cachexia, Sarcopenia and Muscle, Volume 14, Issue 2, Page 964-977, April 2023., 2023
Abstract Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. There is scarce knowledge on IBM aetiology, and non‐established biomarkers or effective treatments are available,
Judith Cantó‐Santos, Laura Valls‐Roca, Ester Tobías, Francesc Josep García‐García, Mariona Guitart‐Mampel, Anna Esteve‐Codina, Beatriz Martín‐Mur, Mercedes Casado, Rafael Artuch, Estel Solsona‐Vilarrasa, José Carlos Fernandez‐Checa, Carmen García‐Ruiz, Carles Rentero, Carlos Enrich, Pedro J. Moreno‐Lozano, José César Milisenda, Francesc Cardellach, Josep M. Grau‐Junyent, Glòria Garrabou   +18 more
wiley   +1 more source