Results 11 to 20 of about 990 (176)

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

Frontiers in Neuroscience, 2018
Hereditary Inclusion Body Myopathy (HIBM) is a rare autosomal dominant or recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant or recessive and occurs in adulthood.
Yan Lu, Yu-Wei Da, Yong-Biao Zhang, Xin-Gang Li, Xin-Gang Li, Min Wang, Li Di, Mi Pang, Lin Lei   +8 more
doaj   +2 more sources

The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo [PDF]

Biomolecules, 2020
In studies on the degradation of glycogen by rhGAA, a glycosylated protein core material was found which consists of about 5–6% of the total starting glycogen. There was an additional 25% of the glycogen unaccounted for based on glucose released.
Allen K. Murray
doaj   +2 more sources

A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. [PDF]

PLoS ONE, 2012
We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations.
Yan Lu, Xingang Li, Min Wang, Xin Li, Feng Zhang, Yun Li, Meng Zhang, Yuwei Da, Jun Yu, Jianping Jia   +9 more
doaj   +5 more sources

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature

Annals of Indian Academy of Neurology, 2016
Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM
Biplab Das, Manoj Kumar Goyal, Sanat Ramchandra Bhatkar, Pulikottil Wilson Vinny, Manish Modi, Vivek Lal, N Gayathri, Anitha Mahadevan, Bishan Dass Radotra   +8 more
doaj   +2 more sources

Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. [PDF]

PLoS ONE, 2015
Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia (FTD), more recently termed multisystem proteinopathy (MSP).
Angèle Nalbandian, Katrina J Llewellyn, Christopher Nguyen, Puya G Yazdi, Virginia E Kimonis   +4 more
doaj   +2 more sources

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]

Muscle Nerve, 2019
Introduction: UDP N‐acetylglucosamine2‐epimerase/N‐acetylmannosamine‐kinase (GNE) gene mutations can cause mostly autosomal‐recessive myopathy with juvenile‐onset known as hereditary inclusion‐body myopathy (HIBM).
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M.   +10 more
europepmc   +2 more sources

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study [PDF]

BMC Neurology, 2007
Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment.
Dorward Heidi, Ciccone Carla, Sonies Barbara, Harris-Love Michael, Shrader Joseph, Manoli Irini, Joe Galen, Rakocevic Goran, Sparks Susan, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A   +12 more
doaj   +3 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

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