Papers - NAKAMURA Masayuki
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Arai K, Sakimoto H, Urata Y, Kariya K, Nakamura T, Ikehata T, Shimojima R, Naomi Furue N, Ishizuka T, Sano A . Aging related catatonia with reversible dopamine transporter dysfunction in females with depressive symptoms: a case series. . Am. J. Geriat. Pschiat. 2023Aging related catatonia with reversible dopamine transporter dysfunction in females with depressive symptoms: a case series.Reviewed
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Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A . Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. . Journal of human genetics66 ( 4 ) 449 - 450 2021.4Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
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Umehara H, Nakamura M, Nagai M, Kato Y, Ueno SI, Sano A . Correction to: Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation. . Journal of human genetics66 ( 3 ) 345 2021.3Correction to: Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation.
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Tada Y, Hamaguchi T, Ikeda Y, Iwasa K, Nishida Y, Nakamura M, Sano A, Yamada M . Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report. . Journal of the neurological sciences412 116731 2020.5Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report.
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Futamura A, Nakamura M, Kawamura M, Sano A, Ono K . Novel <i>VPS13A</i> Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis. . Neurology India68 ( 1 ) 206 - 208 2020.1Novel <i>VPS13A</i> Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis.
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Yoshimuta H. . The effects of olanzapine treatment on brain regional glucose metabolism in neuroleptic-naive first-episode schizophrenic patients . Human Psychopharmacology31 ( 6 ) 419 - 426 2016.11
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Sasaki N. . Chorein interacts with a-Tubulin and histone deacetylase 6, and overexpression preserves cell viability during nutrient deprivation in human embryonic kidney 293 cells . FASEB Journal30 ( 11 ) 3726 - 3732 2016.11
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Benninger F. . Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation . Epilepsia57 ( 4 ) 549 - 556 2016.4
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Sakimoto H. . Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background . Biochemical and Biophysical Research Communications472 ( 1 ) 118 - 124 2016.3
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Shiokawa N. . Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin . Biochemical and Biophysical Research Communications441 ( 1 ) 96 - 101 2013.11
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Sangatsuda Y. . Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA<sup>Val</sup> gene in a proband and his mother with repeated consciousness disturbances . Mitochondrion12 ( 6 ) 617 - 622 2012.11
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Ishizuka T. . Different clinical phenotypes in siblings with a Presenilin-1 P264L mutation . Dementia and Geriatric Cognitive Disorders33 ( 2-3 ) 132 - 140 2012.6
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Hayashi T. . Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells . Biochemical and Biophysical Research Communications419 ( 3 ) 511 - 516 2012.3
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Deguchi A. . Quetiapine-induced frequent premature ventricular contraction . General Hospital Psychiatry34 ( 2 ) 211.e1 - 211.e3 2012.3
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Mori S. . Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree . Journal of Human Genetics56 ( 10 ) 742 - 747 2011.10
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Takata A. . Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia . Genome Biology12 ( 9 ) 2011.9
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Ishizuka T. . Familial semantic dementia with P301L mutation in the tau gene . Dementia and Geriatric Cognitive Disorders31 ( 5 ) 334 - 340 2011.7
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Tomiyasu A. . Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis . American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics156 ( 5 ) 620 - 631 2011.7
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Kato M. . Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms . Neuroscience Research69 ( 4 ) 331 - 336 2011.4
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Shimo H. . Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia . Neuroscience Research69 ( 3 ) 196 - 202 2011.3