… We discussed how we see the patients and realized that the three groups of the physicians
… In patients with steroid myopathy, 24-h excretion of creatinine in the urine increases. This can …

Isaacs' syndrome (acquired neuromyotonia) is an antibody‐mediated potassium channel
disorder (channelopathy). The target channel proteins of the antigens are voltage‐gated …

Increased oxidative damage is a prominent and early feature in Alzheimer disease. We
previously crossed Alzheimer disease transgenic (APPsw) model mice with α-tocopherol transfer …

Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative
disorders. By positional cloning, we have identified the gene strongly associated with a …

Objective: To determine the clinical and radiologic features of Gerstmann–Sträussler–Scheinker
syndrome caused by Pro102Leu mutation in PRNP (GSS102). Methods: The authors …

Hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are both
caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine …

The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine
kinase (GNE) gene, the causative gene for hereditary …

Objective The long-term use of levodopa to treat Parkinson's disease (PD) is often limited by
the development of motor complications (eg levodopa-induced dyskinesia, LID). We …

Objectives. To estimate the number of patients with polymyositis/dermatomyositis (PM/DM)
in Japan and the prevalence rate and incidence rate of the disease. Methods. The electronic …

Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE)
revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by …