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Kiyoshi Hayasaka | doi.page

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Kiyoshi Hayasaka

Yamagata University(JP)Tohoku Medical and Pharmaceutical University(JP)

Publications by Year

Research Areas

Hereditary Neurological Disorders, Metabolism and Genetic Disorders, Biochemical and Molecular Research, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases

Most-Cited Works

→ De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy(2008)541 cited
→ Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene(1993)363 cited
→ Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A(2004)254 cited
→ De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy(2013)231 cited
→ Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation(2013)223 cited
→ Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients(2002)215 cited

→ Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese(1998)209 cited

→ De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)(1993)203 cited

→ Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome(2013)196 cited

→ Molecular analysis of congenital central hypoventilation syndrome(2003)182 cited