Faculty Profiles - NAKAMURA Masayuki

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

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.

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.

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.

Futamura A, Nakamura M, Kawamura M, Sano A, Ono K . Novel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis. . Neurology India68 ( 1 ) 206 - 208 2020.1Novel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis.

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

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

Benninger F. . Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation . Epilepsia57 ( 4 ) 549 - 556 2016.4

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

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

Sangatsuda Y. . Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances . Mitochondrion12 ( 6 ) 617 - 622 2012.11

Ishizuka T. . Different clinical phenotypes in siblings with a Presenilin-1 P264L mutation . Dementia and Geriatric Cognitive Disorders33 ( 2-3 ) 132 - 140 2012.6

Hayashi T. . Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells . Biochemical and Biophysical Research Communications419 ( 3 ) 511 - 516 2012.3

Deguchi A. . Quetiapine-induced frequent premature ventricular contraction . General Hospital Psychiatry34 ( 2 ) 211.e1 - 211.e3 2012.3

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

Takata A. . Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia . Genome Biology12 ( 9 ) 2011.9

Ishizuka T. . Familial semantic dementia with P301L mutation in the tau gene . Dementia and Geriatric Cognitive Disorders31 ( 5 ) 334 - 340 2011.7

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

Kato M. . Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms . Neuroscience Research69 ( 4 ) 331 - 336 2011.4

Shimo H. . Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia . Neuroscience Research69 ( 3 ) 196 - 202 2011.3

Hayashi T. . Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case . Psychiatry and Clinical Neurosciences65 ( 1 ) 105 - 108 2011.2

Liang Y. . ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line . Brain Research1286 221 - 229 2009.8

Ichiba M. . Neuroacanthocytosis update . Brain and Nerve60 ( 6 ) 635 - 641 2008.6

Nakamura M. . A mouse model of chorea-acanthocytosis . Neuroacanthocytosis Syndromes II 153 - 159 2008

Ichiba M. . Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree . Journal of the Neurological Sciences263 ( 1-2 ) 124 - 132 2007.12

Ratovitski T. . N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease . Cell Cycle6 ( 23 ) 2970 - 2981 2007.12

Jiang H. . Parkinson's disease genetic mutations increase cell susceptibility to stress: Mutant α-synuclein enhances H<inf>2</inf>O<inf>2</inf>- and Sin-1-induced cell death . Neurobiology of Aging28 ( 11 ) 1709 - 1717 2007.11

Kasugai M. . Differences in two mice strains on kainic acid-induced amygdalar seizures . Biochemical and Biophysical Research Communications357 ( 4 ) 1078 - 1083 2007.6

Mizuno E. . Brain-specific transcript variants of 5′ and 3′ ends of mouse VPS13A and VPS13C . Biochemical and Biophysical Research Communications353 ( 4 ) 902 - 907 2007.2

Kurano Y. . In vivo distribution and localization of chorein . Biochemical and Biophysical Research Communications353 ( 2 ) 431 - 435 2007.2

Kurano Y. . Chorein deficiency leads to upregulation of gephyrin and GABA<inf>A</inf> receptor . Biochemical and Biophysical Research Communications351 ( 2 ) 438 - 442 2006.12

Bajestan S.N. . Association of AKT1 haplotype with the risk of schizophrenia in Iranian population . American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics141 ( 4 ) 383 - 386 2006.6

Tanaka Y. . Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtin . Neurobiology of Disease21 ( 2 ) 381 - 391 2006.2

Wang W. . Compounds blocking mutant huntingtin toxicity identified using a Huntington's disease neuronal cell model . Neurobiology of Disease20 ( 2 ) 500 - 508 2005.11

Tomemori Y. . A gene-targeted mouse model for chorea-acanthocytosis . Journal of Neurochemistry92 ( 4 ) 759 - 766 2005.2

Ueno S.I. . Chorea-acanthocytosis with the ehime-deletion mutation . Neuroacanthocytosis Syndromes 39 - 43 2005

Sakai K. . The silencer activity of the novel human serotonin transporter linked polymorphic regions . Neuroscience Letters327 ( 1 ) 13 - 16 2002.7

Sano A. . Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy . Epilepsia43 ( SUPPL. 9 ) 26 - 31 2002

Ueno S.I. . The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis . Nature Genetics28 ( 2 ) 121 - 122 2001.6

Nakamura M. . The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants . Molecular Psychiatry5 ( 1 ) 32 - 38 2000

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

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

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

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

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

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

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

Urata Y. . Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1 . Frontiers in Neurology11 12 2020.2

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

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

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

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

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

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

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

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

Murakami T. . A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs . BMC Neurology19 ( 1 ) 301 2019.11

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

Nishida Y. . Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis . Neurology: Genetics5 ( 3 ) e332 2019.6

Urata Y. . Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein . Neurology: Genetics5 ( 3 ) e328 2019.6

6. Murakami T, Abe D, Matsumoto H, Tokimura R, Abe M, Tiksnadi A, Kobayashi S, Kaneko C, Urata Y, Nakamura M, Sano A, Ugawa Y . A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs. . BMC Neurol.19 2019A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.Reviewed

Kawaike Y, Nagata J, Furuya T, Koriyama C, Nakamura M, Sano A . Working memory-related prefrontal hemodynamic responses in university students: A correlation study of aubjective well-being and lifestyle habits. . Front. Behav. Neurosci.13 2019Working memory-related prefrontal hemodynamic responses in university students: A correlation study of aubjective well-being and lifestyle habits.Reviewed

ishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, Mizobuchi M, Sakurai K, Osaki Y, Morita Y, Watanabe M, Yoshida K, Yamane K, Miyakoshi N, Ryouichi Okiyama R, Ueda T, Wakasugi N, Saitoh Y, Sakamoto T, Takahashi Y, Shibano K, Tokuoka H, Hara A, Monma K, Ogata K, Kakuda K, Mochizuki H, Arai T, Araki M, Fujii T, Tsukita K, Sakamaki-Tsukita H, Sano A . Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. . Neurol. Genet.5 2019Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.Reviewed

37. Urata Y, Nakamura M, Sasaki N, Shiokawa N, Nishida Y, Arai K, Hiwatashi H, Izumi Yokoyama I, Narumi S, Terayama Y, Murakami T, Ugawa Y, Sakamoto H, Kaneko S, Nakazawa Y, Yamasaki R, Sadashima S, Sakai T, Arai H, Sano A . Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein. . Neurol. Genet.5 2019Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.Reviewed

Nagata O. . Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece . Biochemical and Biophysical Research Communications503 ( 2 ) 915 - 920 2018.9

Ishiura H. . Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy . Nature Genetics50 ( 4 ) 581 - 590 2018.4

36. Nagata O, Nakamura M, Sakimoto H, Urata Y, Sasaki N, Shiokawa N, Sano A . Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece. . Biochem. Biophys. Res. Commun.503 915 - 920 2018Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.Reviewed

Ishiura H, Doi K, Mitsui J, Yoshimura J, ........Nakamura M et al . Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy . Nat. Genet.50 581 - 590 2018Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsyReviewed

石島洋輔, 新井薫, 肝付洋, 中村雅之, 佐野輝 . 発熱・白血球増多を伴うカタトニアを呈した急速交代型双極性障害の1例 . 精神医学59 ( 10 ) 943 - 948 2017.10発熱・白血球増多を伴うカタトニアを呈した急速交代型双極性障害の1例

Publisher：(株)医学書院

カタトニア(緊張病)は,さまざまな精神疾患や身体疾患を背景に生じ,精神運動の失調を来す症候群である。DSM-5ではカタトニアが特定用語となり,統合失調症以外の疾患にも適応が広がった。また,発熱や自律神経失調を呈するカタトニアは悪性カタトニアと呼ばれ,抗精神病薬による悪性症候群との関連性が議論されている。我々は双極性障害の症例において,発熱と白血球増多がカタトニアに先行し,カタトニアの改善とともに消退した現象を観察した。本症例は悪性カタトニアの症候を部分的に呈しており,非悪性と悪性カタトニアの連続性が示唆された。また,発熱・白血球増多に着目することは,カタトニアの早期診断に寄与すると考えられた。(著者抄録)

齊之平一隆, 石塚貴周, 田畑健太郎, 横塚紗永子, 新井薫, 塩川奈理, 春日井基文, 中村雅之, 佐野輝 . 前頭葉機能障害を呈した前頭骨内板過骨症の1例 . 九州神経精神医学63 ( 2 ) 88 - 93 2017.8前頭葉機能障害を呈した前頭骨内板過骨症の1例

Publisher：九州精神神経学会

前頭葉機能障害を中心とした認知症機能低下と前頭骨内板過骨症(HFI)を有する80代の女性の症例を報告した。2年前の夏頃より「お金の管理に自信がない」「運転するのが怖い」と訴えるようになり、物忘れや脱抑制的言動が目立つようになり、認知症の鑑別と治療目的で入院となった。Mini Mental State Examinationは28/30点と保たれていたが、Frontal Assessment Batteryをはじめとする前頭葉機能検査では顕著な障害を認めた。頭部CTやMRIにおいて前頭骨に限局した結節性の過骨性変化と軽度の前頭葉の萎縮や両側側脳室下角の開大を認め、大脳白質にはT2延長領域を認めた。AD index(tau×Aβ40/42)は11697を示し、血管性の病変に加えてアルツハイマー病理の存在も示唆された。脱抑制症状や徘徊等の異常行動に対してquetiapineの内服を開始し、125mgまで漸増したところ、神経心理学的検査においては明らかな改善は見られなかったが、情動は安定し病棟内で落ち着いて生活できるようになった。

新井薫, 肝付洋, 春日井基文, 中村雅之, 佐野輝 . 回避・制限性食物摂取障害にrisperidoneが有効であった1例 . 精神医学59 ( 1 ) 91 - 94 2017.1回避・制限性食物摂取障害にrisperidoneが有効であった1例

Publisher：(株)医学書院

回避・制限性食物摂取障害(avoidant/restrictive food intake disorder;ARFID)はDSM-5において追加されたボディイメージの歪みがない摂食障害である。思春期発症のARFIDの19歳女性の1例を提示する。患者は腹部の手術と腸閉塞の既往を持ち,15歳から食後の腹痛を恐れて食事を制限するようになった。SSRIやbenzodiazepineで治療されたが十分に反応しなかった。19歳時にrisperidone 1mgの投与を契機に腹痛に対する不安が軽減し,食事摂取が可能になった。ARFIDに対して抗精神病薬が治療の選択肢となり得ることが示唆された。(著者抄録)

Sainohira Kazutaka, Ishizuka Takanori, Tabata Kentaro, Yokotsuka Saeko, Arai Kaoru, Shiokawa Nari, Kasugai Motofumi, Nakamura Masayuki, Sano Akira . A Case of Hyperostosis Frontalis Interna with Frontal Lobe Dysfunction . Kyushu Neuropsychiatry63 ( 2 ) 88 - 93 2017

Publisher：The Association of Kyushu Neuropsychiatry

Hyperostosis frontalis interna (HFI) is characterized by the bilateral thickening of the frontal bone of the skull. Although most patients with HFI show no clinical symptoms, a few have been reported to show diverse and non-specific symptoms, including－but not limited to－cognitive decline, epileptic seizure, and endocrine disorder. We experienced the case of an 80-year-old woman with cognitive decline, in whom HFI was discovered on MRI and CT. Neurophychiatric examinations revealed frontal lobe dysfunction. HFI was therefore suggested to be one of the causes of frontal lobe dysfunction.

DOI： 10.11642/kyushuneurop.63.2_88

34. Yoshimuta H, Nakamura M, Kanda E, Fujita S, Takeuchi K, Fujimoto T, Nakabeppu Y, Akasaki Y, Sano A . The effects of olanzapine treatment on brain regional glucose metabolism in neuroleptic-naive first-episode schizophrenic patients. . Hum. Psychopharmacol. 2016.11The effects of olanzapine treatment on brain regional glucose metabolism in neuroleptic-naive first-episode schizophrenic patients.Reviewed

arumi S, Natori T, Miyazawa H, Kato T, Yonezawa H, Nishino I, Nakamura M, Sano A, Terayama Y . A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs. . Neurol. Clin. Neurosci.4 115 - 117 2016A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.Reviewed

33. Wakamatsu M, Nakamura M, Kasugai M, Kimotsuki H, Oki T, Orita Y, Togami S, Kobayashi H, Sano A, Douchi T . Predictive validity of the Japanese version of Postpartum Depression Predictors Inventory-Revised (PDPI-R) during pregnancy and the postpartum period. . Medical Journal of Kagoshima University 2016Predictive validity of the Japanese version of Postpartum Depression Predictors Inventory-Revised (PDPI-R) during pregnancy and the postpartum period.Reviewed

asaki N, Nakamura M, Kodama A, Urata Y, Shiokawa N, Hayashi T, Sano A . horein interacts with α-tubulin and HDAC6, and overexpression preserves cell viability during nutrient deprivation in HEK293 cells. . FASEB J 2016horein interacts with α-tubulin and HDAC6, and overexpression preserves cell viability during nutrient deprivation in HEK293 cells. Reviewed

Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Hayashi T, Sasaki N, Sano A . Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin. . Biochem Biophys Res Commun441 96 - 101 2013.11Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.Reviewed

*Sangatsuda Y, *Nakamura M, Tomiyasu A, Deguchi A, Toyota Y, Goto Y, Nishino I, Ueno S, Sano A . Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances . Mitochondrion12 ( 6 ) 617 - 622 2012.11Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbancesReviewed

*Ishizuka T, *Nakamura M, Ichiba M, Sano A . Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation . Dement. Geriatr. Cogn. Disord.33 ( 42038 ) 132 - 140 2012.5Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L MutationReviewed

Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A . Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. . Journal of Human Genetics2011 ( 56 ) 742 - 747 2011.10Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.Reviewed

Ishizuka T, Nakamura M, Ichiba M, Sano A . Familial Semantic Dementia with P301L Mutation in the Tau Gene. . Dementia and geriatric cognitive disorders31 ( 5 ) 334 - 340 2011.5Familial Semantic Dementia with P301L Mutation in the Tau Gene. Reviewed

Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano 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 620 - 631 2011.5Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis.Reviewed

Kato M, Nakamura M, Ichiba M, Tomiyasu A, Shimo H, Higuchi I, Ueno S, Sano A. . Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms. . Neuroscience Research69 331 - 336 2011.4Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms.Reviewed

Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno SI, Sano A . Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. . Neuroscience Research69 ( 3 ) 196 - 202 2011.3Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.Reviewed

Hayashi T, Nakamura M, Ichiba M et al. . Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case. . Psychiatry Clin Neurosci65 105 - 108 2011.1Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case. Reviewed

Ratovitski T, Nakamura M, D'Ambola J et al. . N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease. . Cell Cycle6 2970 - 2981 2007.1N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease. Reviewed

E Mizuno, M Nakamura, A Agemura, A Kusumoto, M Ichiba, Y Kurano, S Muroya, A Sano, . Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C: . Biochem Biophys Res Commun.353 902 - 907 2007Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C:Reviewed

Y Kurano, M Nakamura, M Ichiba, M Matsuda, E Mizuno, M Kato, A Agemura, S.Izumo, A Sano, . In vivo distribution and localization of chorein: . Biochem Biophys Res Commun.353 41 - 435 2007In vivo distribution and localization of chorein:Reviewed

中村雅之　佐野　輝　 . 精神疾患の遺伝子研究． . 精神医学　47 348 - 358 2005精神疾患の遺伝子研究．

中村雅之　佐野　輝　 . セロトニントランスポーター． . 分子精神医学　5 72 - 74 2005セロトニントランスポーター．

中村雅之　 . ハンチントン病の発現誘導マウスモデル及びPC12細胞モデルにおける全長変異ハンチンチンのタンパク質分解 . 神経化学43 39 - 46 2004ハンチントン病の発現誘導マウスモデル及びPC12細胞モデルにおける全長変異ハンチンチンのタンパク質分解

Sakai K, Nakamura M, Ueno S et al. . The silencer activity of the novel human serotonin transporter linked polymorphic regions. . Neurosci Lett327 13 - 16 2002.1The silencer activity of the novel human serotonin transporter linked polymorphic regions.Reviewed

Nakamura M, Ueno S, Sano A, Tanabe H. . The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants. . Mol Psychiatry 5 32 - 38 2000.1The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants.Reviewed

Nakamura M, Ueno S, Sano A, Tanabe H. . Polymorphisms of the human homologue of the Drosophila white gene are associated with mood and panic disorders. . Mol Psychiatry 4 155 - 162 1999.1Polymorphisms of the human homologue of the Drosophila white gene are associated with mood and panic disorders.Reviewed

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<NAKAMURA Masayuki>

Papers - NAKAMURA Masayuki