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NONAKA MYOPATHY

Known as: MYOPATHY, DISTAL, WITH RIMMED VACUOLES, INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING, Nonaka distal myopathy 
National Institutes of Health

Related topics

Related topics

9 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceDistal amyotrophyFootdrop

Broader (1)

Distal Muscular Dystrophies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome
To the Editor: Blau syndrome is an autoinflammatory disease caused by mutations in the NOD2 gene1. The initial symptoms of Blau… 
2010
2010
1 SEEDED AGGREGATION AND TOXICITY OF α-SYNUCLEIN AND TAU : CELLULAR MODELS OF NEURODEGENERATIVE DISEASES
SEEDED AGGREGATION AND TOXICITY OF α-SYNUCLEIN AND TAU: CELLULAR MODELS OF NEURODEGENERATIVE DISEASES* Takashi Nonaka, Sayuri T… 
2009
2009
Helical nanofilaments and the high chirality limit of smectics A.
Liquid crystalline systems exhibiting both macroscopic chirality and smectic order experience frustration resulting in mesophases… 
Review
2008
Review
2008
The hereditary inclusion body myopathy enigma and its future therapy
Review
2008
Review
2008
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
Purpose of reviewDistal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive… 
Highly Cited
2006
Highly Cited
2006
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Hereditary inclusion body myopathy (HIBM), a neuromuscular disorder, is caused by mutations in UDP-N-acetylglucosamine 2… 
2000
2000
Defect-dependent elasticity: Nanoindentation as a probe of stress state
Using an interfacial force microscope, the measured elastic response of 100-nm-thick Au films was found to be strongly correlated… 
Highly Cited
1998
Highly Cited
1998
Influence of prior Na+ pump activity on pump and Na+/Ca2+exchange currents in mouse ventricular myocytes.
We examined the dependence of peak Na+ pump and Na+/Ca2+exchanger currents on prior Na+pump inhibition induced by exposure to… 
1995
1995
The class I-b molecule Qa-1 forms heterodimers with H-2Ld and a novel 50-kD glycoprotein encoded centromeric to I-E beta
Recent biochemical characterization of the T23-encoded Qa-1 molecule revealed an additional higher molecular mass species of 50… 
1990
1990
Holmium:YAG laser ablation of vascular tissue
The ablation of atherosclerotic lesions without collateral thermal or shock wave damage is thought to be a key element for… 
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