Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

Human Molecular Genetics ◽

10.1093/hmg/5.1.159 ◽

1996 ◽

Vol 5 (1) ◽

pp. 159-163 ◽

Author(s):

S. Mitrani-Rosenbaum ◽

Z. Argov ◽

A. Blumenfeld ◽

C. E. Seidman ◽

J. G. Seidman

Keyword(s):

Inclusion Body ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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

Neuromuscular Disorders ◽

10.1016/j.nmd.2012.06.051 ◽

2012 ◽

Vol 22 (9-10) ◽

pp. 817

Author(s):

A.M. Skrinar ◽

J.E. Mayhew ◽

M.L. Maurer ◽

E. Kakkis

Keyword(s):

Pilot Study ◽

Muscle Strength ◽

Inclusion Body ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy ◽

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The hereditary inclusion body myopathy enigma and its future therapy

Neurotherapeutics ◽

10.1016/j.nurt.2008.07.004 ◽

2008 ◽

Vol 5 (4) ◽

pp. 633-637 ◽

Author(s):

Zohar Argov ◽

Stella Mitrani-Rosenbaum

Keyword(s):

Inclusion Body ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy ◽

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Autophagy in a Mouse Model of Distal Myopathy with Rimmed Vacuoles or Hereditary Inclusion Body Myopathy

Autophagy ◽

10.4161/auto.4270 ◽

2007 ◽

Vol 3 (4) ◽

pp. 396-398 ◽

Author(s):

May Christine V. Malicdan ◽

Satoru Noguchi ◽

Ichizo Nishino

Keyword(s):

Mouse Model ◽

Inclusion Body ◽

Distal Myopathy ◽

Rimmed Vacuoles ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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The homozygous M712T mutation of UDP-N -acetylglucosamine 2-epimerase/N -acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

FEBS Letters ◽

10.1016/j.febslet.2004.04.013 ◽

2004 ◽

Vol 566 (1-3) ◽

pp. 105-109 ◽

Author(s):

Stephan Hinderlich ◽

Ilan Salama ◽

Iris Eisenberg ◽

Tamara Potikha ◽

Lars R. Mantey ◽

...

Keyword(s):

Inclusion Body ◽

Enzyme Activities ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Brazilian Journal of Medical and Biological Research ◽

10.1590/s0100-879x2011007500028 ◽

2011 ◽

Vol 44 (4) ◽

pp. 374-380 ◽

Author(s):

R.D. Fanganiello ◽

V.E. Kimonis ◽

C.C. Côrte ◽

R. Nitrini ◽

M.R. Passos-Bueno

Keyword(s):

Frontotemporal Dementia ◽

Inclusion Body ◽

Inclusion Body Myopathy ◽

Paget Disease Of Bone ◽

Paget Disease ◽

Hereditary Inclusion Body Myopathy

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GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

Muscle Aging, Inclusion-Body Myositis and Myopathies ◽

10.1002/9781444398311.ch12 ◽

2011 ◽

pp. 191-198

Author(s):

Zohar Argov ◽

Ichizo Nishino ◽

Ikuya Nonaka

Keyword(s):

Inclusion Body ◽

Clinical Features ◽

Distal Myopathy ◽

Rimmed Vacuoles ◽

Inclusion Body Myopathy ◽

Gne Myopathy ◽

Hereditary Inclusion Body Myopathy

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564. Correction of Hyposialylation in Hereditary Inclusion Body Myopathy, by Ex-Vivo Therapy

Molecular Therapy ◽

10.1016/j.ymthe.2006.08.637 ◽

2006 ◽

Vol 13 ◽

pp. S217

Author(s):

Zoé Coulombe ◽

Dominic Gagné ◽

Jacques P. Tremblay

Keyword(s):

Inclusion Body ◽

Ex Vivo ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

Human Molecular Genetics ◽

10.1093/hmg/ddm220 ◽

2007 ◽

Vol 16 (22) ◽

pp. 2669-2682 ◽

Author(s):

M. C. V. Malicdan ◽

S. Noguchi ◽

I. Nonaka ◽

Y. K. Hayashi ◽

I. Nishino

Keyword(s):

Inclusion Body ◽

Knockout Mouse ◽

Distal Myopathy ◽

Rimmed Vacuoles ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)

Gene Regulation and Systems Biology ◽

10.4137/grsb.s728 ◽

2008 ◽

Vol 2 ◽

pp. GRSB.S728 ◽

Author(s):

Chris Jay ◽

Gregory Nemunaitis ◽

John Nemunaitis ◽

Neil Senzer ◽

Stephan Hinderlich ◽

...

Keyword(s):

Inclusion Body ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy ◽

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660. Novel GNE Mutations in Patients with Autosomal Recessive Hereditary Inclusion Body Myopathy

Molecular Therapy ◽

10.1016/s1525-0016(16)36464-4 ◽

2012 ◽

Vol 20 ◽

pp. S255

Keyword(s):

Inclusion Body ◽

Autosomal Recessive ◽

Inclusion Body Myopathy ◽

Hereditary Inclusion Body Myopathy

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