FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Toshitaka Kawarai

Research Profile

Chemicals & Drugs

Disorders

Concepts & Ideas

Physiology

Procedures

DNA Mutational Analysis

Anatomy

Living Beings

Mouse

Co-author Network

Publications

TOP 3
Antonio Orlacchio; Pasqua Montieri; Carla Babalini; Giorgio Bernardi; Fabrizio Gaudiello; Toshitaka Kawarai
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.
Toshitaka Kawarai; Yasushi Kita; Naoki Saji; Hirotaka Shimizu; Makoto Tadano; Koichiro Taniguchi; Reiko Tsuda; Takeshi Ishimoto
Spinal myoclonus resulting from intrathecal administration of human neural stem cells.
Naoki Saji; Hirotaka Shimizu; Toshitaka Kawarai; Makoto Tadano; Yasushi Kita; Koichi Yokono
Clinical features of a first-ever lacunar infarction in Japanese patients: poor outcome in females.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Toshitaka Kawarai (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2011: Antonio Orlacchio; Pasqua Montieri; Carla Babalini; Giorgio Bernardi; Fabrizio Gaudiello; Toshitaka Kawarai
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.
Journal of neurology 2011;258(7):1361-3.
2011: Toshitaka Kawarai; Yasushi Kita; Naoki Saji; Hirotaka Shimizu; Makoto Tadano; Koichiro Taniguchi; Reiko Tsuda; Takeshi Ishimoto
Spinal myoclonus resulting from intrathecal administration of human neural stem cells.
Movement disorders : official journal of the Movement Disorder Society 2011;26(7):1358-60.
2011: Naoki Saji; Hirotaka Shimizu; Toshitaka Kawarai; Makoto Tadano; Yasushi Kita; Koichi Yokono
Clinical features of a first-ever lacunar infarction in Japanese patients: poor outcome in females.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2011;20(3):231-5.
2011: Naoki Saji; Hirotaka Shimizu; Makoto Tadano; Toshitaka Kawarai; Yasushi Kita; Koichi Yokono
Increased brachial-ankle pulse wave velocity is independently associated with white matter hyperintensities.
Neuroepidemiology 2011;36(4):252-7.
2010: Hirotaka Shimizu; Nobuyuki Oka; Toshitaka Kawarai; Koichiro Taniguchi; Naoki Saji; Makoto Tadano; Giorgio Bernardi; Antonio Orlacchio; Yasushi Kita
Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene.
Clinical neurology and neurosurgery 2010;112(9):798-800.
2010: Naoki Saji; Takashi Ichiyama; Makoto Tadano; Hirotaka Shimizu; Toshitaka Kawarai; Yasushi Kita; Koichi Yokono
Elderly case of prolonged hypoglycemic coma presenting with reversible magnetic resonance imaging changes.
Geriatrics & gerontology international 2010;10(4):331-3.
2010: Hirotaka Shimizu; Toshitaka Kawarai; Naoki Saji; Makoto Tadano; Yasushi Kita; Masayasu Tabuchi; Koichi Yokono
Re-evaluation of clinical features and risk factors of acute ischemic stroke in Japanese longevity society.
The Kobe journal of medical sciences 2010;55(6):E132-9.
2009: Toshitaka Kawarai; Reiko Tsuda; Naoki Saji; Makoto Tadano; Hirotaka Shimizu; Yasushi Kita
Isolated trochlear nerve palsy due to a contusion at the trochlear nerve exit zone.
European neurology 2009;62(4):256.
2008: Shangxi Xiao; Christine Sato; Toshitaka Kawarai; Emily F Goodall; Hardev S Pall; Lorne H Zinman; Janice Robertson; Karen Morrison; Ekaterina Rogaeva
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.
Neurobiology of aging 2008;29(8):1279-82.
2008: Antonio Orlacchio; C Patrono; Fabrizio Gaudiello; C Rocchi; V Moschella; Roberto Floris; Giorgio Bernardi; Toshitaka Kawarai
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.
Neurology 2008;70(21):1959-66.
2008: Antonio Orlacchio; Ian Bruce; Proton Rahman; Toshitaka Kawarai; Giorgio Bernardi; Peter St George-Hyslop; Dafna D Gladman; Murray B Urowitz
The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus.
Medical science monitor : international medical journal of experimental and clinical research 2008;14(5):CR233-237.
2008: Joseph Lee; Sandra Barral; Rong Cheng; Inara Chacon; Vincent Santana; Jennifer Williamson; Rafael Lantigua; Martin Medrano; Ivonne Z Jimenez-Velazquez; Yaakov Stern; Benjamin Tycko; Ekaterina Rogaeva; Yosuke Wakutani; Toshitaka Kawarai; Peter St George-Hyslop; Richard Mayeux
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.
Neurogenetics 2008;9(1):51-60.
2007: Naoki Saji; Kouichiro Taniguchi; Makoto Tadano; Hirotaka Shimizu; Toshitaka Kawarai; Yasushi Kita
[A case of brainstem encephalitis following multiple cranial neuropathy in a hepatocellular carcinoma patient--association with cytomegalovirus and varicella-zoster virus infection].
Brain and nerve = Shinkei kenkyū no shinpo 2007;59(11):1273-9.
2007: Frédéric Checler; Claire Sunyach; Raphaëlle Pardossi-Piquard; Jean Sévalle; Bruno Vincent; Toshitaka Kawarai; Nadège Girardot; Peter St George-Hyslop; Cristine Alves da Costa
The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53.
Current Alzheimer research 2007;4(4):423-6.
2007: Toshitaka Kawarai; Hirotake Nishimura; Koichiro Taniguchi; Naoki Saji; Hirotaka Shimizu; Makoto Tadano; Teruo Shirabe; Yasushi Kita
Magnetic resonance imaging of biceps femoris muscles in benign acute childhood myositis.
Archives of neurology 2007;64(8):1200-1.
2007: Amalia C Bruni; Parastoo Momeni; L Bernardi; Carmine Tomaino; F Frangipane; Joshua Elder; Toshitaka Kawarai; Christine Sato; S Pradella; Yosuke Wakutani; M Anfossi; M Gallo; S Geracitano; A Costanzo; Nicoletta Smirne; S A M Curcio; Maria Mirabelli; Gianfranco Puccio; Rosanna Colao; Raffaele Maletta; A Kertesz; Peter St George-Hyslop; John Hardy; Ekaterina Rogaeva
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
Neurology 2007;69(2):140-7.
2007: Naoki Saji; Toshitaka Kawarai; Makoto Tadano; Hirotaka Shimizu; Yasushi Kita; Keiichiro Susuki; Takashi Kanbayashi
Does CSF hypocretin-1 decrease in Bickerstaff's brainstem encephalitis?
Clinical neurology and neurosurgery 2007;109(6):547-8.
2007: Masaru Matsui; Toshitaka Kawarai; Yoshiki Hase; Hidekazu Tomimoto; Kazumi Iseki; Ekaterina Rogaeva; Antonio Orlacchio; Giorgio Bernardi; Peter St George-Hyslop; Ryosuke Takahashi; Makoto Matsui
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
Journal of neurology 2007;254(7):972-4.
2007: Nobuto Shibata; Toshitaka Kawarai; Yan Meng; Joseph Lee; Hye-Seung Lee; Yosuke Wakutani; Eri Shibata; Nazia Pathan; Andrew Bi; Christine Sato; Sandro Sorbi; Amalia C Bruni; Ranjan Duara; Richard Mayeux; Lindsay A Farrer; Peter St George-Hyslop; Ekaterina Rogaeva
Association studies between the plasmin genes and late-onset Alzheimer's disease.
Neurobiology of aging 2007;28(7):1041-3.
2007: Julie Dunys; Toshitaka Kawarai; Jean Sevalle; Virginia Dolcini; Peter St George-Hyslop; Cristine Alves da Costa; Frédéric Checler
p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity.
The Journal of biological chemistry 2007;282(14):10516-25.
2007: Raphaëlle Pardossi-Piquard; Julie Dunys; Toshitaka Kawarai; Claire Sunyach; Cristine Alves da Costa; Bruno Vincent; Jean Sévalle; Sanjay Pimplikar; Peter St George-Hyslop; Cristine Alves da Costa
Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554.
Neuron 2007;53(4):483-6.
2007: Julie Dunys; Toshitaka Kawarai; Emilie Giaime; Sherwin Wilk; Magali Herrant; Patrick Auberger; Peter St George-Hyslop; Cristine Alves da Costa; Cristine Alves da Costa
Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2.
Neuro-degenerative diseases 2007;4(2-3):156-63.
2007: Antonio Orlacchio; Paolo Calabresi; Adriana Rum; Anna Tarzia; Anna Maria Salvati; Toshitaka Kawarai; Alessandro Stefani; Antonio Pisani; Giorgio Bernardi; Paolo Cianciulli; Patrizia Caprari
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
BMC neurology 2007;7():4.
2006: Naoki Saji; Nobuaki Yamamoto; Junko Yoda; Makoto Tadano; Hiroshi Yamasaki; Hirotaka Shimizu; Toshitaka Kawarai; Yasushi Kita
[Adult case of acute encephalopathy associated with bilateral thalamic lesions and peripheral neuropathy].
Nō to shinkei = Brain and nerve 2006;58(11):1009-14.
2006: Joseph Lee; Rong Cheng; Vincent Santana; Jennifer Williamson; Rafael Lantigua; Martin Medrano; Alex Arriaga; Yaakov Stern; Benjamin Tycko; Ekaterina Rogaeva; Yosuke Wakutani; Toshitaka Kawarai; Peter St George-Hyslop; Richard Mayeux
Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease.
Archives of neurology 2006;63(11):1591-8.
2006: Sabine Wislet-Gendebien; Cheryl A D'Souza; Toshitaka Kawarai; Peter St George-Hyslop; David Westaway; Paul E Fraser; Anurag Tandon
Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes.
The Journal of biological chemistry 2006;281(43):32148-55.
2006: Tetsuro Murakami; Erwan Paitel; Takeshi Kawarabayashi; Masaki Ikeda; M Azhar Chishti; Christopher Janus; Etsuro Matsubara; Atsushi Sasaki; Toshitaka Kawarai; Amie L Phinney; Yasuo Harigaya; Patrick Horne; Nobuaki Egashira; Kenichi Mishima; Amanda Hanna; Jing Yang; Katsunori Iwasaki; Mitsuo Takahashi; Michihiro Fujiwara; Koichi Ishiguro; Catherine Bergeron; George A Carlson; Koji Abe; David Westaway; Peter St George-Hyslop; Mikio Shoji
Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation.
The American journal of pathology 2006;169(4):1365-75.
2006: Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato; Antonio Orlacchio; Giorgio Bernardi; Yan Liang; Hiroshi Hasegawa; Ekaterina Rogaeva; Peter St George-Hyslop
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
Movement disorders : official journal of the Movement Disorder Society 2006;21(9):1531-3.
2006: Ekaterina Rogaeva; Cindy Zadikoff; Jonathan Ponesse; Gerold Schmitt-Ulms; Toshitaka Kawarai; Christine Sato; Shabnam Salehi-Rad; Peter St George-Hyslop; Anthony E Lang
Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
Archives of neurology 2006;63(7):1016-21.
2006: Cristine Alves da Costa; Claire Sunyach; Raphaëlle Pardossi-Piquard; Jean Sévalle; Bruno Vincent; Nicole Boyer; Toshitaka Kawarai; Nadège Girardot; Peter St George-Hyslop; Cristine Alves da Costa
Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(23):6377-85.
2006: L Bernardi; Raffaele Maletta; Carmine Tomaino; Nicoletta Smirne; Manuela Di Natale; M Perri; T Longo; Rosanna Colao; S A M Curcio; Gianfranco Puccio; Maria Mirabelli; Toshitaka Kawarai; Ekaterina Rogaeva; Peter St George-Hyslop; Giuseppe Passarino; G De Benedictis; Amalia C Bruni
The effects of APOE and tau gene variability on risk of frontotemporal dementia.
Neurobiology of aging 2006;27(5):702-9.
2006: Fusheng Chen; Hiroshi Hasegawa; Gerold Schmitt-Ulms; Toshitaka Kawarai; Christopher Bohm; Taiichi Katayama; Yongjun Gu; Nobuo Sanjo; Michael Glista; Ekaterina Rogaeva; Yosuke Wakutani; Raphaëlle Pardossi-Piquard; Xueying Ruan; Anurag Tandon; Frédéric Checler; Philippe Marambaud; Kirk Hansen; David Westaway; Peter St George-Hyslop; Paul E Fraser
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
Nature 2006;440(7088):1208-12.
2006: Julie Dunys; Toshitaka Kawarai; Sherwin Wilk; Peter St George-Hyslop; Cristine Alves da Costa; Frédéric Checler
Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins.
The Biochemical journal 2006;394(Pt 2):501-9.
2006: Renato P Munhoz; Toshitaka Kawarai; Hélio A G Teive; Salmo Raskin; Christine Sato; Yan Liang; Peter St George-Hyslop; Ekaterina Rogaeva
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):279-81.
2006: Nobuto Shibata; Toshitaka Kawarai; Joseph Lee; Hye-Seung Lee; Eri Shibata; Christine Sato; Yan Liang; Ranjan Duara; Richard Mayeux; Peter St George-Hyslop; Ekaterina Rogaeva
Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
Neuroscience letters 2006;391(3):142-6.
2006: Parastoo Momeni; Ekaterina Rogaeva; Vivianna M Van Deerlin; Wuxing Yuan; Jordan Grafman; Michael Tierney; Edward D Huey; Jason Bell; Christopher M Morris; Rajesh N. Kalaria; Susan J van Rensburg; Dana J H Niehaus; F C V Potocnik; Toshitaka Kawarai; Shabnam Salehi-Rad; Christine Sato; Peter St George-Hyslop; John Hardy
Genetic variability in CHMP2B and frontotemporal dementia.
Neuro-degenerative diseases 2006;3(3):129-33.
2006: Ekaterina Rogaeva; Toshitaka Kawarai; Peter St George-Hyslop
Genetic complexity of Alzheimer's disease: successes and challenges.
Journal of Alzheimer's disease : JAD 2006;9(3 Suppl):381-7.
2005: Agnes Petit; Toshitaka Kawarai; Erwan Paitel; Nobuo Sanjo; Mary Maj; Michael Scheid; Fusheng Chen; Yongjun Gu; Hiroshi Hasegawa; Shabnam Salehi-Rad; Linda Wang; Ekaterina Rogaeva; Paul E Fraser; Brian Robinson; Peter St George-Hyslop; Anurag Tandon
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.
The Journal of biological chemistry 2005;280(40):34025-32.
2005: Coro Paisan-Ruiz; Anthony E Lang; Toshitaka Kawarai; Christine Sato; Shabnam Salehi-Rad; G K Fisman; T Al-Khairallah; Peter St George-Hyslop; Andrew Singleton; Ekaterina Rogaeva
LRRK2 gene in Parkinson disease: mutation analysis and case control association study.
Neurology 2005;65(5):696-700.
2005: Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Peter St George-Hyslop; Roberto Floris; Giorgio Bernardi
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.
Annals of neurology 2005;58(3):423-9.
2005: Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio Schillaci; Alessandro Stefani; Roberto Floris; Peter St George-Hyslop; Sandro Sorbi; Giorgio Bernardi
Clinical and genetic study of a large SPG4 Italian family.
Movement disorders : official journal of the Movement Disorder Society 2005;20(8):1055-9.
2005: Raphaëlle Pardossi-Piquard; Agnès Petit; Toshitaka Kawarai; Claire Sunyach; Cristine Alves da Costa; Bruno Vincent; Sabine Ring; Luciano D'Adamio; Jie Shen; Ulrike Müller; Peter St George-Hyslop; Cristine Alves da Costa
Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP.
Neuron 2005;46(4):541-54.
2005: Christine Sato; Angharad Morgan; Anthony E Lang; Shabnam Salehi-Rad; Toshitaka Kawarai; Yan Meng; Peter N Ray; Lindsay A Farrer; Peter St George-Hyslop; Ekaterina Rogaeva
Analysis of the glucocerebrosidase gene in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2005;20(3):367-70.
2005: Masaki Ikeda; Mikio Shoji; Toshitaka Kawarai; Takeshi Kawarabayashi; Etsuro Matsubara; Tetsuro Murakami; Atsushi Sasaki; Yasushi Tomidokoro; Yasushi Ikarashi; Hisashi Kuribara; Koichi Ishiguro; Masato Hasegawa; Shu-Hui C. Yen; M Azhar Chishti; Yasuo Harigaya; Koji Abe; Koichi Okamoto; Peter St George-Hyslop; David Westaway
Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice.
The American journal of pathology 2005;166(2):521-31.
2004: Justus L Groen; Toshitaka Kawarai; Anna Toulina; Chiara Rivoiro; Shabnam Salehi-Rad; Christine Sato; Angharad Morgan; Yan Liang; Ronald B Postuma; Peter St George-Hyslop; Anthony E Lang; Ekaterina Rogaeva
Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.
Neuroscience letters 2004;372(3):226-9.
2004: Ekaterina Rogaeva; Janel Johnson; Anthony E Lang; Cindy Gulick; Katrina Gwinn-Hardy; Toshitaka Kawarai; Christine Sato; Angharad Morgan; John Werner; Robert L Nussbaum; Agnes Petit; Michael S Okun; Aideen McInerney; Ronald Mandel; Justus L Groen; Hubert H Fernandez; Ronald B Postuma; Kelly D Foote; Shabnam Salehi-Rad; Yan Liang; Sharon Reimsnider; Anurag Tandon; John Hardy; Peter St George-Hyslop; Andrew Singleton
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Archives of neurology 2004;61(12):1898-904.
2004: Hiroshi Hasegawa; Nobuo Sanjo; Fusheng Chen; Yong-Jun Gu; Cortney Shier; Agnes Petit; Toshitaka Kawarai; Taiichi Katayama; Stephen D Schmidt; Paul Mathews; Gerold Schmitt-Ulms; Paul E Fraser; Peter St George-Hyslop
Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes.
The Journal of biological chemistry 2004;279(45):46455-63.
2004: Joseph Lee; Richard Mayeux; David Mayo; J Mo; Vincent Santana; Jennifer Williamson; Antonia Flaquer; Alejandra Ciappa; Haydee Z Rondon; Pedro Estevez; Rafael Lantigua; Toshitaka Kawarai; Anna Toulina; Martin Medrano; Mayobanex Torres; Yaakov Stern; Benjamin Tycko; Ekaterina Rogaeva; Peter St George-Hyslop; James A Knowles
Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.
Molecular psychiatry 2004;9(11):1042-51.
2004: Yongjun Gu; Nobuo Sanjo; Fusheng Chen; Hiroshi Hasegawa; Agnes Petit; Xueying Ruan; Wenping Li; Cortney Shier; Toshitaka Kawarai; Gerold Schmitt-Ulms; David Westaway; Peter St George-Hyslop; Paul E Fraser
The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities.
The Journal of biological chemistry 2004;279(30):31329-36.
2004: Janel Johnson; Jovanka Ostojic; Lars Lannfelt; Anna Glaser; Hans Basun; Ekaterina Rogaeva; Toshitaka Kawarai; Amalia Bruni; Peter St George-Hyslop; Alison Goate; Pau Pastor; Sumi Chakraverty; Joanne Norton; John C Morris; John Hardy; Andrew Singleton
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
Neuroscience letters 2004;363(2):99-101.
2004: Antonio Orlacchio; Toshitaka Kawarai; Mario Polidoro; Andrew D Paterson; Ekaterina Rogaeva; Aldo Orlacchio; Peter St George-Hyslop; Giorgio Bernardi
Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene.
Neuroscience letters 2004;363(1):49-53.
2004: Antonio Orlacchio; Toshitaka Kawarai; Antonio Totaro; Alessia Errico; Peter St George-Hyslop; Elena I Rugarli; Giorgio Bernardi
Hereditary spastic paraplegia: clinical genetic study of 15 families.
Archives of neurology 2004;61(6):849-55.
2004: Antonio Orlacchio; Fabrizio Gaudiello; Antonio Totaro; Roberto Floris; Peter St George-Hyslop; Giorgio Bernardi; Toshitaka Kawarai
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
Neurology 2004;62(10):1875-8.
2004: Cheryl A Luis; Warren W Barker; David A Loewenstein; Thomas A Crum; Ekaterina Rogaeva; Toshitaka Kawarai; Peter St George-Hyslop; Ranjan Duara
Conversion to dementia among two groups with cognitive impairment. A preliminary report.
Dementia and geriatric cognitive disorders 2004;18(3-4):307-13.
2003: Ekaterina Rogaeva; Catherine Bergeron; Christine Sato; I Moliaka; Toshitaka Kawarai; Anna Toulina; You-Qiang Song; T Kolesnikova; A Orlacchio; Giorgio Bernardi; Peter St George-Hyslop
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
Neurology 2003;61(7):1005-7.
2003: Galit Kleiner-Fisman; Ekaterina Rogaeva; William Halliday; Sylvain Houle; Toshitaka Kawarai; Christine Sato; Helena Medeiros; Peter St George-Hyslop; Anthony E Lang
Benign hereditary chorea: clinical, genetic, and pathological findings.
Annals of neurology 2003;54(2):244-7.
2003: Anurag Tandon; Haung Yu; Linda Wang; Ekaterina Rogaeva; Christine Sato; M Azhar Chishti; Toshitaka Kawarai; Hiroshi Hasegawa; Fusheng Chen; Peter Davies; Paul E Fraser; David Westaway; Peter St George-Hyslop
Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles.
Journal of neurochemistry 2003;86(3):572-81.
2003: Manuela Di Natale; Maria Perri; Toshitaka Kawarai; Raffaele Maletta; Carmine Tomaino; Christine Sato; Benedetta Nacmias; Nobuto Shibata; Sandro Sorbi; Peter St George-Hyslop; Amalia C Bruni; Ekaterina Rogaeva
Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
Neuroscience letters 2003;343(3):210-2.
2003: Yongjun Gu; Fusheng Chen; Nobuo Sanjo; Toshitaka Kawarai; Hiroshi Hasegawa; Monika Duthie; Wenping Li; Xueying Ruan; Anchla Luthra; Howard T J Mount; Anurag Tandon; Paul E Fraser; Peter St George-Hyslop
APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.
The Journal of biological chemistry 2003;278(9):7374-80.
2002: Antonio Orlacchio; Toshitaka Kawarai; Mario Polidoro; Alessandro Stefani; Aldo Orlacchio; Peter St George-Hyslop; Giorgio Bernardi
Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.
Neuroscience letters 2002;333(2):115-8.
2002: Antonio Orlacchio; Toshitaka Kawarai; Ekaterina Rogaeva; You-Qiang Song; Andrew D Paterson; Giorgio Bernardi; Peter St George-Hyslop
Clinical and genetic study of a large Italian family linked to SPG12 locus.
Neurology 2002;59(9):1395-401.
2002: S A M Curcio; Toshitaka Kawarai; A D Paterson; Raffaele Maletta; Gianfranco Puccio; M Perri; Manuela Di Natale; S Palermo; Jean Francois Foncin; Peter St George-Hyslop; Amalia C Bruni
A large Calabrian kindred segregating frontotemporal dementia.
Journal of neurology 2002;249(7):911-22.
2002: Antonio Orlacchio; Toshitaka Kawarai; Eleonora Paciotti; Alessandro Stefani; Aldo Orlacchio; Sandro Sorbi; Peter St George-Hyslop; Giorgio Bernardi
Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease.
Neuroscience letters 2002;325(1):13-6.
2001: Eleni S Athan; Jennifer Williamson; Alejandra Ciappa; Vincent Santana; Stavra N Romas; Joseph Lee; Haydee Z Rondon; Rafael Lantigua; Martin Medrano; Mayobanex Torres; Shigeki Arawaka; Ekaterina Rogaeva; You-Qiang Song; Christine Sato; Toshitaka Kawarai; K C Fafel; MA Boss; William K Seltzer; Yaakov Stern; Peter St George-Hyslop; Benjamin Tycko; Richard Mayeux
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
JAMA : the journal of the American Medical Association 2001;286(18):2257-63.
2001: Michael Nicolaou; You-Qiang Song; Christine Sato; A Orlacchio; Toshitaka Kawarai; Helena Medeiros; Yan Liang; Sandro Sorbi; E Richard; Evgeny I Rogaev; Yuri K Moliaka; A C Bruni; R Jorge; M Percy; Ranjan Duara; Lindsay A Farrer; P St Georg-Hyslop; Ekaterina Rogaeva
Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease.
Neurogenetics 2001;3(4):203-6.
2001: Fusheng Chen; Gang G. Yu; Shigeki Arawaka; M Nishimura; Toshitaka Kawarai; Haung Yu; Anurag Tandon; Agnes Supala; You-Qiang Song; Ekaterina Rogaeva; P Milman; Christine Sato; C Yu; Christopher Janus; J Lee; L Song; Liyong Zhang; Paul E Fraser; Peter St George-Hyslop
Nicastrin binds to membrane-tethered Notch.
Nature cell biology 2001;3(8):751-4.
2000: Fusheng Chen; Dun-Sheng Yang; Suzana Petanceska; Austin Yang; Anurag Tandon; Gang G. Yu; Richard Rozmahel; Jorge Ghiso; M Nishimura; DM Zhang; Toshitaka Kawarai; Georges Levesque; J Mills; L Levesque; You-Qiang Song; Ekaterina Rogaeva; David Westaway; Howard T J Mount; Sam Gandy; Peter St George-Hyslop; Paul E Fraser
Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.
The Journal of biological chemistry 2000;275(47):36794-802.
2000: DM Zhang; D Levitan; Gang G. Yu; M Nishimura; Fusheng Chen; Anurag Tandon; Toshitaka Kawarai; Shigeki Arawaka; Agnes Supala; You-Qiang Song; Ekaterina Rogaeva; Yan Liang; E Holmes; P Milman; Christine Sato; Liyong Zhang; Peter St George-Hyslop
Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans.
Neuroreport 2000;11(14):3227-30.
2000: Gang G. Yu; M Nishimura; Shigeki Arawaka; D Levitan; Liyong Zhang; Anurag Tandon; You-Qiang Song; Ekaterina Rogaeva; Fusheng Chen; Toshitaka Kawarai; Agnes Supala; L Levesque; Haung Yu; Dun-Sheng Yang; E Holmes; P Milman; Yan Liang; DM Zhang; D H Xu; Christine Sato; Evgeny I Rogaev; M Smith; Christopher Janus; Y Zhang; R Aebersold; Lindsay A Farrer; Sandro Sorbi; Amalia C Bruni; Paul E Fraser; Peter St George-Hyslop
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.
Nature 2000;407(6800):48-54.
2000: Gang G. Yu; Fusheng Chen; M Nishimura; H Steiner; Anurag Tandon; Toshitaka Kawarai; Shigeki Arawaka; Agnes Supala; You-Qiang Song; Ekaterina Rogaeva; E Holmes; DM Zhang; P Milman; Paul E Fraser; Christian Haass; Peter St George-Hyslop
Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes.
The Journal of biological chemistry 2000;275(35):27348-53.
2000: A Orlacchio; Toshitaka Kawarai; A M Massaro; Peter St George-Hyslop; Sandro Sorbi
Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.
Neuroscience letters 2000;285(2):83-6.
2000: Gang G. Yu; Fusheng Chen; M Nishimura; H Steiner; Anurag Tandon; Toshitaka Kawarai; Shigeki Arawaka; Agnes Supala; You-Qiang Song; Ekaterina Rogaeva; E Holmes; DM Zhang; P Milman; Paul E Fraser; Christian Haass; Peter St George-Hyslop
Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.
Acta neurologica Scandinavica. Supplementum 2000;176():6-11.
1999: M Nishimura; Gang G. Yu; Georges Levesque; DM Zhang; L Ruel; Fusheng Chen; P Milman; E Holmes; Yan Liang; Toshitaka Kawarai; E Jo; Agnes Supala; Ekaterina Rogaeva; D M Xu; Christopher Janus; L Levesque; Q Bi; Monika Duthie; Richard Rozmahel; K Mattila; Lars Lannfelt; David Westaway; Howard T J Mount; James R Woodgett; Peter St George-Hyslop
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.
Nature medicine 1999;5(2):164-9.
1998: Ekaterina Rogaeva; S Premkumar; Y Song; Sandro Sorbi; N Brindle; A Paterson; Ranjan Duara; Georges Levesque; Gang G. Yu; M Nishimura; Masaki Ikeda; Colleen O'Toole; Toshitaka Kawarai; R Jorge; D Vilarino; Amalia C Bruni; Lindsay A Farrer; Peter St George-Hyslop
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.
JAMA : the journal of the American Medical Association 1998;280(7):614-8.
1998: You-Qiang Song; Ekaterina Rogaeva; S Premkumar; N Brindle; Toshitaka Kawarai; A Orlacchio; Gang G. Yu; Georges Levesque; M Nishimura; Masaki Ikeda; Y Pei; Colleen O'Toole; Ranjan Duara; W Barker; Sandro Sorbi; M Freedman; Lindsay A Farrer; Peter St George-Hyslop
Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.
Neuroscience letters 1998;250(3):189-92.