K Iwabuchi

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Kazuhiro Sanpei, Hiroki Takano, S. Igarashi et al. · Nature Genetics · 1996 · 771 citations

Molecular Neuroscience, Direct Identification, Cloning Technique +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

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 246 citations

Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study

Shigeru Koyano, Toshiki Uchihara, Hiroto Fujigasaki et al. · Neuroscience Letters · 1999 · 128 citations

Triple-labeling Immunofluorescent Study, Neuronal Intranuclear Inclusions, Neuroanatomy +7

Ataxin-3 Is Translocated into the Nucleus for the Formation of Intranuclear Inclusions in Normal and Machado–Joseph Disease Brains

Hiroto Fujigasaki, Toshiki Uchihara, Shigeru Koyano et al. · Experimental Neurology · 2000 · 98 citations

Neurodegenerative Diseases, Machado–joseph Disease Brains, Neurobiology Of Disease +11