Hiroshi Takashima

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 521 citations

Genome Instability, Neurodegenerative Diseases, Molecular Neuroscience +10

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 479 citations

Neurodegenerative Diseases, Genetic Disorder, Neurology +6

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone, Keiko Mori, Tomonori Inagaki et al. · Brain · 2016 · 383 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Pathology +17

Autoantibodies to Epilepsy-Related LGI1 in Limbic Encephalitis Neutralize LGI1-ADAM22 Interaction and Reduce Synaptic AMPA Receptors

Toshika Ohkawa, Yuko Fukata, Miwako Yamasaki et al. · Journal of Neuroscience · 2013 · 345 citations · Full text

Lgi1 Antibodies, Synaptic Plasticity, Autoimmune Disease +14

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 325 citations

Chromatin, Genome Instability, Chromatin Structure +7