Papers - NAKAMURA Masayuki
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Ueno S. . Identification of a novel polymorphism of the human dopamine transporter (DAT1) gene and the significant association with alcoholism . Molecular Psychiatry4 ( 6 ) 552 - 557 1999
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Nakamura M. . Polymorphisms of the human homologue of the Drosophila white gene are associated with mood and panic disorders . Molecular Psychiatry4 ( 2 ) 155 - 162 1999
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Mikami M. . Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1 . American Journal of Human Genetics65 ( 3 ) 745 - 751 1999
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Terasaki A. . 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 ) 419 - 429 2021.4
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Umehara H. . 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 ) 243 - 249 2021.3
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Yokotsuka-Ishida S. . Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia . Journal of Human Genetics66 ( 6 ) 597 - 606 2021
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Kasamo K. . A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms . Neuroscience Research157 58 - 63 2020.8
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Urata Y. . Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1 . Frontiers in Neurology11 12 2020.2
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44. Yokotsuka-Ishida S, Nakamura M, Tomiyasu Y, Nagai M, Kato Y, Tomiyasu A, Umehara H, Hayashi T, Sasaki N, Ueno S, Sano A . Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia . J. Hum. Genet. 2020Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophreniaReviewed
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Kasamo K, Nakamura M, Daimou Y, Sano A . A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. . Neurosci. Res.157 58 - 63 2020A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.Reviewed
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ada 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. . J. Neurol. Sci. 2020Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene.Reviewed
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Futamura A, Nakamura M, Kawamura M Sano A, Ono K . Novel VPS13A gene mutations in a South Asian, Indian patient with chorea-acanthocytosis. . Neurol. India.68 206 - 208 2020Novel VPS13A gene mutations in a South Asian, Indian patient with chorea-acanthocytosis.Reviewed
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7. Urata Y, Nakamura M, Shiokawa N, Yasuniwa A, Takamori N, Imamura K, Hayashi T, Ishizuka T, Kasugai M, Sano A . Sleep disorders in four patients with myotonic dystrophy type 1. . Front. Neurol.11 2020Sleep disorders in four patients with myotonic dystrophy type 1.Reviewed
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erasaki A, Nakamura M, Urata Y, et al . 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 . J. Hum. Genet. 2020DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6AReviewed
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42. Umehara H, Nakamura M, Nagai M, Kato Y, Ueno S, Sano A . Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation. . J. Hum. Genet. 2020Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation.Reviewed
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Suzuki F, Sato N, Ota M, Sugiyama A, ...., Nakamura M, et al . Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis. . J. Neurol. Sci.408 2020Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.Reviewed
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Murakami T. . A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs . BMC Neurology19 ( 1 ) 301 2019.11
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Kawaike Y. . Working Memory-Related Prefrontal Hemodynamic Responses in University Students: A Correlation Study of Subjective Well-Being and Lifestyle Habits . Frontiers in Behavioral Neuroscience13 213 2019.9
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Nishida Y. . Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis . Neurology: Genetics5 ( 3 ) e332 2019.6
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Urata Y. . Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein . Neurology: Genetics5 ( 3 ) e328 2019.6