Hiroyuki Tomimitsu

An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

Kinya Ishikawa, Shuta Toru, Taiji Tsunemi et al. · The American Journal of Human Genetics · 2005 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Depletion of Vitamin E Increases Amyloid β Accumulation by Decreasing Its Clearances from Brain and Blood in a Mouse Model of Alzheimer Disease

Yoichiro Nishida, Shingo Ito, Sumio Ohtsuki et al. · Journal of Biological Chemistry · 2009 · 103 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Early clinical signs and imaging findings in Gerstmann–Straussler–Scheinker syndrome (Pro102Leu)

H. Arata, Hiroshi Takashima, Ryuki Hirano et al. · Neurology · 2006 · 72 citations

Medicine, Neurology, Neuroscience +17

Distal myopathy with rimmed vacuoles: Novel mutations in the <i>GNE</i> gene

Hiroyuki Tomimitsu, Kinya Ishikawa, Junya Shimizu et al. · Neurology · 2002 · 71 citations

Life Sciences, Genetics, Molecular Genetics +13

Distal myopathy with rimmed vacuoles (DMRV)

Hiroyuki Tomimitsu, Junya Shimizu, Kinya Ishikawa et al. · Neurology · 2004 · 64 citations

Medicine, Genetics, Molecular Genetics +15