Eiichiro Uyama, MD

Neurology Kumamoto University, Kumamoto-shi, Kumamoto-ken, Japan 
"Eiichiro Uyama"



Mean distance: 19.07 (cluster 24)
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Doki T, Yamashita S, Wei FY, et al. (2019) Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy. Laboratory Investigation; a Journal of Technical Methods and Pathology
Ueda A, Ueda M, Nagatoshi A, et al. (2015) Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. Journal of Neurology
Nakahara K, Ueda M, Yamada K, et al. (2014) Juvenile-onset parkinsonism with digenic parkin and PINK1 mutations treated with subthalamic nucleus stimulation at 45 years after disease onset. Journal of the Neurological Sciences. 345: 276-7
Funayama M, Li Y, Tsoi TH, et al. (2008) Familial Parkinsonism with digenic parkin and PINK1 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1461-5
Tajima Y, Uyama E, Go S, et al. (2005) Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. The American Journal of Pathology. 166: 1121-30
Hino H, Araki K, Uyama E, et al. (2004) Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. Human Molecular Genetics. 13: 181-90
Yamada K, Andrews C, Chan WM, et al. (2003) Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics. 35: 318-21
Uyama E, Yamada K, Kawano H, et al. (2003) A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscular Disorders : Nmd. 13: 472-8
Santa Y, Uyama E, Chui DH, et al. (2003) Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. Journal of the Neurological Sciences. 212: 79-84
Shimamura M, Uyama E, Hirano T, et al. (2003) A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy. Internal Medicine (Tokyo, Japan). 42: 195-8
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