Results 121 to 130 of about 828 (162)

Inclusion body myositis - pathomechanism and lessons from genetics. [PDF]

Open Med (Wars), 2015
Murnyák B, Bodoki L, Vincze M, Griger Z, Csonka T, Szepesi R, Kurucz A, Dankó K, Hortobágyi T.   +8 more
europepmc   +1 more source

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. [PDF]

J Neuromuscul Dis
Roos A, Häusler M, Kollipara L, Topf A, Preusse C, Stucka R, Nolte K, Strom T, Berutti R, Jiang X, Koll R, Lochmüller H, Schacht SM, Zahedi RP, Weis J, Senderek J.   +15 more
europepmc   +1 more source

Μοριακή διερεύνηση μιας οικογένειας με αυτοσωμική επικρατούσα κληρονομική μυοσίτιδα με έγκλειστα (HIBM)

, 2010
openaire   +1 more source

When a negative (charge) is not a positive: sialylation and its role in cancer mechanics and progression. [PDF]

Front Oncol
Habeeb IF, Alao TE, Delgado D, Buffone A.   +3 more
europepmc   +1 more source

GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation. [PDF]

Glycobiology
Neu CT, Weilepp L, Bork K, Gesper A, Horstkorte R.   +4 more
europepmc   +1 more source

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
openaire  

S.P.32 The HIBM Patient Monitoring Program (HIBM-PMP): Registry and natural history study to advance research and clinical management in Hereditary Inclusion Body Myopathy (HIBM or GNE Myopathy)

Neuromuscular Disorders, 2012
Abstract HIBM is an autosomal recessive, non-inflammatory, neuromuscular disorder caused by a defect in the biosynthetic pathway for sialic acid with no approved treatment. Given the rarity of the disease and the potential for novel therapies, there is a need to characterize the clinical presentation and progression of disease to support treatment ...
Emil Kakkis, Jason Ditton, Alison Skrinar, Ruhi Ahmed   +3 more
openalex   +2 more sources

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives

Current Opinion in Neurology, 2008
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic ...
May Christine V. Malicdan, S. Noguchi, Ichizo Nishino   +2 more
openalex   +3 more sources