Nobuyoshi Fukuhara

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?

Nobuyoshi Fukuhara, S. Tokiguchi, K Shirakawa et al. · Journal of the Neurological Sciences · 1980 · 423 citations

Mitochondrial Myopathy, Mitochondrial Abnormalities, Ragged-red Fibres +12

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Hidetoshi Date, Osamu Onodera, Hajime Tanaka et al. · Nature Genetics · 2001 · 382 citations

New Hit, Mendelian Disorder, Ophthalmology +10

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

Takeshi Ikeuchi, Tomoya Asaka, Masaaki Saito et al. · Annals of Neurology · 1997 · 80 citations

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

Yasuteru Sano, Hidetoshi Date, Shuichi Igarashi et al. · Annals of Neurology · 2004 · 77 citations

Human Cerebellar Activation in Relation to Saccadic Eye Movements: A Functional Magnetic Resonance Imaging Study

Yuuki Hayakawa, Takashi Nakajima, Mineo Takagi et al. · Ophthalmologica · 2002 · 73 citations

Motor Control, Optic Nerve, Neurology +24