Results 141 to 150 of about 990 (176)

P.3.7 A prodrug strategy to increase oral absorption and bioavailability of Sialic acid in an HIBM mouse model

Neuromuscular Disorders, 2013
Sialic acid (SA) is intended for use as a substrate replacement therapy for the treatment of hereditary inclusion body myopathy (HIBM or also DMRV, now known as GNE Myopathy), a severe, neuromuscular disease caused by a defect in the sialic acid biosynthetic pathway.
G. Morris, Y. Chan, J. Grubb, S. Jungles, E. Kakkis   +4 more
semanticscholar   +2 more sources

G.P.29 Results from a pilot study of muscle strength and function in adults with Hereditary Inclusion Body Myopathy (HIBM)

Neuromuscular Disorders, 2012
Abstract Hereditary inclusion body myopathy (HIBM) is a severe progressive myopathy with onset in adulthood. Weakness begins in the distal muscles but progresses proximally over time, although the quadriceps remains the least affected muscle group. There is no approved treatment.
A. Skrinar, J. Mayhew, M. Maurer, E. Kakkis   +3 more
semanticscholar   +2 more sources

T.P.13 A phase 1 safety and pharmacokinetic study of sialic acid-extended release tablets in patients with Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy)

Neuromuscular Disorders, 2012
Abstract Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy) is an autosomal recessive, non-inflammatory, neuromuscular disorder caused by a defect in the biosynthetic pathway for sialic acid (SA), which is required for the glycosylation of many proteins and lipids. There is no approved treatment for this disease.
E. Kakkis, M. Maurer, P. Shah, M. Donikyan, R. Ahmed   +4 more
semanticscholar   +2 more sources

GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study

Neuromuscular Disorders, 2017
A. Béhin, T. Mozaffar, M. Tarnopolsky, T. Gidaro, Hanns Lochmüller   +4 more
semanticscholar   +2 more sources

Quad Bod: A Case That Highlights the Unique Presentation of Hereditary Inclusion Body Myopathy (HIBM) (P10-11.011)

Neurology
Samantha DiSalvo, Liam Townley, Kunal Desai   +2 more
semanticscholar   +2 more sources

O.7 Novel approach to sialic acid therapy in DMRV/hIBM mouse model

Neuromuscular Disorders, 2010
M. Malicdan, S. Noguchi, K. Momma, F. Funato, Y. Hayashi, I. Nishino   +5 more
semanticscholar   +2 more sources

IN58-TH-02 Hereditary inclusions body myopathies (HIBM)

Journal of the Neurological Sciences, 2009
Z. Argov
semanticscholar   +2 more sources

D.P.3.06 Amyloidogenesis in a mouse model of DMRV/hIBM

Neuromuscular Disorders, 2008
M. Malicdan, S. Noguchi, Y. Hayashi, I. Nonaka, I. Nishino   +4 more
semanticscholar   +2 more sources

G.P.5.03 Genotype–phenotype correlation of DMRV/hIBM patient in Japan

Neuromuscular Disorders, 2009
K. Momma, Satoru Noguchi, Yuichi Hayashi, Kazuo Motoyoshi, Keiko Kamakura, I. Nonaka, I. Nishino   +6 more
semanticscholar   +2 more sources

O.18 Zebrafish as a model system for GNE mediated hereditary inclusion body myopathy (HIBM)

Neuromuscular Disorders, 2011
A. Daya, M. Becker-Cohen, Y. Gothilf, S. Du, S. Mitrani-Rosenbaum   +4 more
semanticscholar   +2 more sources