Patrizia Rizzu

Patrizia Rizzu

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Patrizia Rizzu

Patrizia Rizzu

Publications by authors named "Patrizia Rizzu"

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Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

FANTOM5 CAGE profiles of human and mouse samples.

Authors:
Shuhei Noguchi Takahiro Arakawa Shiro Fukuda Masaaki Furuno Akira Hasegawa Fumi Hori Sachi Ishikawa-Kato Kaoru Kaida Ai Kaiho Mutsumi Kanamori-Katayama Tsugumi Kawashima Miki Kojima Atsutaka Kubosaki Ri-Ichiroh Manabe Mitsuyoshi Murata Sayaka Nagao-Sato Kenichi Nakazato Noriko Ninomiya Hiromi Nishiyori-Sueki Shohei Noma Eri Saijyo Akiko Saka Mizuho Sakai Christophe Simon Naoko Suzuki Michihira Tagami Shoko Watanabe Shigehiro Yoshida Peter Arner Richard A Axton Magda Babina J Kenneth Baillie Timothy C Barnett Anthony G Beckhouse Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher Ailsa J Carlisle Hans C Clevers Carrie A Davis Michael Detmar Taeko Dohi Albert S B Edge Matthias Edinger Anna Ehrlund Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Afsaneh Eslami Michela Fagiolini Lynsey Fairbairn Mary C Farach-Carson Geoffrey J Faulkner Carmelo Ferrai Malcolm E Fisher Lesley M Forrester Rie Fujita Jun-Ichi Furusawa Teunis B Geijtenbeek Thomas Gingeras Daniel Goldowitz Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Yuki Hasegawa Meenhard Herlyn Peter Heutink Kelly J Hitchens David A Hume Tomokatsu Ikawa Yuri Ishizu Chieko Kai Hiroshi Kawamoto Yuki I Kawamura Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura Sarah Klein S Peter Klinken Alan J Knox Soichi Kojima Haruhiko Koseki Shigeo Koyasu Weonju Lee Andreas Lennartsson Alan Mackay-Sim Niklas Mejhert Yosuke Mizuno Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Kelly J Morris Hozumi Motohashi Christine L Mummery Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Tadasuke Nozaki Soichi Ogishima Naganari Ohkura Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Robert Passier Margaret Patrikakis Ana Pombo Swati Pradhan-Bhatt Xian-Yang Qin Michael Rehli Patrizia Rizzu Sugata Roy Antti Sajantila Shimon Sakaguchi Hiroki Sato Hironori Satoh Suzana Savvi Alka Saxena Christian Schmidl Claudio Schneider Gundula G Schulze-Tanzil Anita Schwegmann Guojun Sheng Jay W Shin Daisuke Sugiyama Takaaki Sugiyama Kim M Summers Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Andru Tomoiu Hiroo Toyoda Marc van de Wetering Linda M van den Berg Roberto Verardo Dipti Vijayan Christine A Wells Louise N Winteringham Ernst Wolvetang Yoko Yamaguchi Masayuki Yamamoto Chiyo Yanagi-Mizuochi Misako Yoneda Yohei Yonekura Peter G Zhang Silvia Zucchelli Imad Abugessaisa Erik Arner Jayson Harshbarger Atsushi Kondo Timo Lassmann Marina Lizio Serkan Sahin Thierry Sengstag Jessica Severin Hisashi Shimoji Masanori Suzuki Harukazu Suzuki Jun Kawai Naoto Kondo Masayoshi Itoh Carsten O Daub Takeya Kasukawa Hideya Kawaji Piero Carninci Alistair R R Forrest Yoshihide Hayashizaki

Sci Data 2017 08 29;4:170112. Epub 2017 Aug 29.

RIKEN Omics Science Center, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1038/sdata.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574368PMC
August 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 2017

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Neurobiol Aging 2016 Jan 30;37:208.e11-208.e17. Epub 2015 Sep 30.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.016DOI Listing
January 2016

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.

Neurology 2014 Jul;83(2):e19-26

From the Departments of Neurology (E.G.P.D., L.C.J., T.d.H., H.S., J.C.v.S.), Epidemiology (T.d.H.), and Neuropsychology (J.R.A.d.G., I.d.K.), Erasmus Medical Center, Rotterdam; Department of Radiology (E.G.P.D., S.A.R.B.R., I.M.V., M.A.v.B.), Leiden University Medical Center; Departments of Neurology (E.G.P.D.) and Clinical Genetics (A.R.H., P.R., J.C.v.S.), VU Medical Center, Amsterdam; Leiden Institute for Brain and Cognition (S.A.R.B.R., I.M.V., M.A.v.B.) and Institute of Psychology (S.A.R.B.R., I.M.V.), Leiden University; Department of Neurology (T.d.H.), Sint Franciscus Gasthuis, Rotterdam, the Netherlands; and Department of Neurology (W.W.S.) and Memory and Aging Center (W.W.S.), University of California, San Francisco.

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http://www.neurology.org/content/early/2013/02/06/WNL.0b013e
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000058
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http://dx.doi.org/10.1212/WNL.0000000000000583DOI Listing
July 2014

A promoter-level mammalian expression atlas.

Authors:
Alistair R R Forrest Hideya Kawaji Michael Rehli J Kenneth Baillie Michiel J L de Hoon Vanja Haberle Timo Lassmann Ivan V Kulakovskiy Marina Lizio Masayoshi Itoh Robin Andersson Christopher J Mungall Terrence F Meehan Sebastian Schmeier Nicolas Bertin Mette Jørgensen Emmanuel Dimont Erik Arner Christian Schmidl Ulf Schaefer Yulia A Medvedeva Charles Plessy Morana Vitezic Jessica Severin Colin A Semple Yuri Ishizu Robert S Young Margherita Francescatto Intikhab Alam Davide Albanese Gabriel M Altschuler Takahiro Arakawa John A C Archer Peter Arner Magda Babina Sarah Rennie Piotr J Balwierz Anthony G Beckhouse Swati Pradhan-Bhatt Judith A Blake Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher A Maxwell Burroughs Andrea Califano Carlo V Cannistraci Daniel Carbajo Yun Chen Marco Chierici Yari Ciani Hans C Clevers Emiliano Dalla Carrie A Davis Michael Detmar Alexander D Diehl Taeko Dohi Finn Drabløs Albert S B Edge Matthias Edinger Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Michela Fagiolini Lynsey Fairbairn Hai Fang Mary C Farach-Carson Geoffrey J Faulkner Alexander V Favorov Malcolm E Fisher Martin C Frith Rie Fujita Shiro Fukuda Cesare Furlanello Masaaki Furino Jun-ichi Furusawa Teunis B Geijtenbeek Andrew P Gibson Thomas Gingeras Daniel Goldowitz Julian Gough Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Matthias Harbers Jayson Harshbarger Akira Hasegawa Yuki Hasegawa Takehiro Hashimoto Meenhard Herlyn Kelly J Hitchens Shannan J Ho Sui Oliver M Hofmann Ilka Hoof Furni Hori Lukasz Huminiecki Kei Iida Tomokatsu Ikawa Boris R Jankovic Hui Jia Anagha Joshi Giuseppe Jurman Bogumil Kaczkowski Chieko Kai Kaoru Kaida Ai Kaiho Kazuhiro Kajiyama Mutsumi Kanamori-Katayama Artem S Kasianov Takeya Kasukawa Shintaro Katayama Sachi Kato Shuji Kawaguchi Hiroshi Kawamoto Yuki I Kawamura Tsugumi Kawashima Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura S Peter Klinken Alan J Knox Miki Kojima Soichi Kojima Naoto Kondo Haruhiko Koseki Shigeo Koyasu Sarah Krampitz Atsutaka Kubosaki Andrew T Kwon Jeroen F J Laros Weonju Lee Andreas Lennartsson Kang Li Berit Lilje Leonard Lipovich Alan Mackay-Sim Ri-ichiroh Manabe Jessica C Mar Benoit Marchand Anthony Mathelier Niklas Mejhert Alison Meynert Yosuke Mizuno David A de Lima Morais Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Efthymios Motakis Hozumi Motohashi Christine L Mummery Mitsuyoshi Murata Sayaka Nagao-Sato Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Kenichi Nakazato Erik van Nimwegen Noriko Ninomiya Hiromi Nishiyori Shohei Noma Shohei Noma Tadasuke Noazaki Soichi Ogishima Naganari Ohkura Hiroko Ohimiya Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Arnab Pain Robert Passier Margaret Patrikakis Helena Persson Silvano Piazza James G D Prendergast Owen J L Rackham Jordan A Ramilowski Mamoon Rashid Timothy Ravasi Patrizia Rizzu Marco Roncador Sugata Roy Morten B Rye Eri Saijyo Antti Sajantila Akiko Saka Shimon Sakaguchi Mizuho Sakai Hiroki Sato Suzana Savvi Alka Saxena Claudio Schneider Erik A Schultes Gundula G Schulze-Tanzil Anita Schwegmann Thierry Sengstag Guojun Sheng Hisashi Shimoji Yishai Shimoni Jay W Shin Christophe Simon Daisuke Sugiyama Takaai Sugiyama Masanori Suzuki Naoko Suzuki Rolf K Swoboda Peter A C 't Hoen Michihira Tagami Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Zuotian Tatum Mark Thompson Hiroo Toyodo Tetsuro Toyoda Elvind Valen Marc van de Wetering Linda M van den Berg Roberto Verado Dipti Vijayan Ilya E Vorontsov Wyeth W Wasserman Shoko Watanabe Christine A Wells Louise N Winteringham Ernst Wolvetang Emily J Wood Yoko Yamaguchi Masayuki Yamamoto Misako Yoneda Yohei Yonekura Shigehiro Yoshida Susan E Zabierowski Peter G Zhang Xiaobei Zhao Silvia Zucchelli Kim M Summers Harukazu Suzuki Carsten O Daub Jun Kawai Peter Heutink Winston Hide Tom C Freeman Boris Lenhard Vladimir B Bajic Martin S Taylor Vsevolod J Makeev Albin Sandelin David A Hume Piero Carninci Yoshihide Hayashizaki

Nature 2014 Mar;507(7493):462-70

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http://dx.doi.org/10.1038/nature13182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529748PMC
March 2014

Regional differences in gene expression and promoter usage in aged human brains.

Neurobiol Aging 2013 Jul 19;34(7):1825-36. Epub 2013 Feb 19.

Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.01.005DOI Listing
July 2013

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Brain Dev 2012 Mar 8;34(3):255-7. Epub 2011 May 8.

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona University, CIBER-ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.braindev.2011.04.007DOI Listing
March 2012

Somatic retrotransposition alters the genetic landscape of the human brain.

Nature 2011 Oct 30;479(7374):534-7. Epub 2011 Oct 30.

Division of Genetics and Genomics, The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK.

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http://dx.doi.org/10.1038/nature10531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224101PMC
October 2011

The complete automation of cell culture: improvements for high-throughput and high-content screening.

J Biomol Screen 2011 Sep 20;16(8):932-9. Epub 2011 Jul 20.

VUMC-Clinical Genetics, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1177/1087057111413920DOI Listing
September 2011

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

Eur J Paediatr Neurol 2010 Mar 28;14(2):182-7. Epub 2009 May 28.

Department of Paediatric Neurology, Bristol Royal Hospital for Children, United Kingdom.

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http://dx.doi.org/10.1016/j.ejpn.2009.04.010DOI Listing
March 2010

Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways.

PLoS One 2009 Aug 28;4(8):e6826. Epub 2009 Aug 28.

Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, and Center for Neurogenomics and Cognitive Research, VU University Medical Center and VU University, Amsterdam, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0006826PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729393PMC
August 2009

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Mov Disord 2009 Jan;24(2):196-203

Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mds.22287DOI Listing
January 2009

Genetic influences on thought problems in 7-year-olds: a twin-study of genetic, environmental and rater effects.

Twin Res Hum Genet 2008 Dec;11(6):571-8

Netherlands Twin Register, Department of Biological Psychology, VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1375/twin.11.6.571DOI Listing
December 2008

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Eur J Hum Genet 2007 Mar 17;15(3):369-74. Epub 2007 Jan 17.

Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201772DOI Listing
March 2007

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.

J Neuropathol Exp Neurol 2007 Jan;66(1):17-25

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/nen.0b013e31802c39a4DOI Listing
January 2007

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.

Am J Med Genet B Neuropsychiatr Genet 2006 Dec;141B(8):944-6

Department of Human Genetics, Section Medical Genomics, VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.30410DOI Listing
December 2006

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor.

J Biol Chem 2006 Jul 26;281(30):20940-8. Epub 2006 May 26.

Department of Neurology, Caritas St. Elizabeth's Medical Center, Tufts University School of Medicine, Boston, Massachusetts 02135, USA.

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http://dx.doi.org/10.1074/jbc.M601935200DOI Listing
July 2006

Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease.

Curr Biol 2005 Sep;15(17):1572-7

Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1016/j.cub.2005.07.064DOI Listing
September 2005

Proteomic and functional analyses reveal a mitochondrial dysfunction in P301L tau transgenic mice.

J Biol Chem 2005 Jun 14;280(25):23802-14. Epub 2005 Apr 14.

Division of Psychiatry Research, University of Zurich, 8008 Zurich, Switzerland.

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http://dx.doi.org/10.1074/jbc.M500356200DOI Listing
June 2005

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.

Hum Mol Genet 2003 Nov 2;12(21):2807-16. Epub 2003 Sep 2.

Department of Human Genetics, Section Medical Genomics, VU University Medical Center, 1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddg304DOI Listing
November 2003

An English kindred with a novel recessive tauopathy and respiratory failure.

Ann Neurol 2003 Nov;54(5):682-6

Department of Neurology, City Hospital, University of Birmingham, Birmingham B18 7QH, UK.

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http://dx.doi.org/10.1002/ana.10747DOI Listing
November 2003

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.

Neurobiol Dis 2003 Feb;12(1):46-55

Department of Psychiatry, University of Geneva School of Medicine, 1225 Geneva, Switzerland.

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http://dx.doi.org/10.1016/s0969-9961(02)00011-6DOI Listing
February 2003

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Science 2003 Jan 21;299(5604):256-9. Epub 2002 Nov 21.

Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1077209
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http://dx.doi.org/10.1126/science.1077209DOI Listing
January 2003

A double RING-H2 domain in RNF32, a gene expressed during sperm formation.

Biochem Biophys Res Commun 2002 Mar;292(1):58-65

Department of Clinical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands.

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http://dx.doi.org/10.1006/bbrc.2002.6612DOI Listing
March 2002