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Patrizia Rizzu
Researcher at German Center for Neurodegenerative Diseases
Publications - 101
Citations - 17635
Patrizia Rizzu is an academic researcher from German Center for Neurodegenerative Diseases. The author has contributed to research in topics: Frontotemporal dementia & Gene. The author has an hindex of 44, co-authored 92 publications receiving 15304 citations. Previous affiliations of Patrizia Rizzu include Erasmus University Medical Center & VU University Amsterdam.
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Journal ArticleDOI
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Mike Hutton,Corinne Lendon,Patrizia Rizzu,Matt Baker,Susanne Froelich,Susanne Froelich,Henry Houlden,Stuart Pickering-Brown,Sumitra Chakraverty,Adrian M. Isaacs,Andrew Grover,J. Hackett,Jennifer Adamson,Sarah Lincoln,Dennis W. Dickson,Peter Davies,Ronald C. Petersen,M. Stevens,E. De Graaff,E. Wauters,J. Van Baren,M. Hillebrand,Marijke Joosse,J. M. Kwon,Petra Nowotny,Lien Kuei Che,Joanne Norton,John C. Morris,L. A. Reed,John Q. Trojanowski,Hans Basun,Lars Lannfelt,M. Neystat,Stanley Fahn,Frances Dark,Tony Tannenberg,Peter R. Dodd,Nicholas K. Hayward,John B.J. Kwok,Peter R. Schofield,Athena Andreadis,Julie S. Snowden,David Craufurd,David Neary,F. Owen,Ben A. Oostra,John Hardy,Alison Goate,J. C. van Swieten,David M. A. Mann,Timothy Lynch,Peter Heutink +51 more
TL;DR: In this paper, the authors sequenced tau in FTDP-17 families and identified three missense mutations (G272V, P301L and R406W) and three mutations in the 5' splice site of exon in
Journal ArticleDOI
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati,Vincenzo Bonifati,Patrizia Rizzu,Marijke J. van Baren,Onno Schaap,Guido J. Breedveld,Elmar Krieger,Marieke C. J. Dekker,Ferdinando Squitieri,Pablo Ibanez,Marijke Joosse,Jeroen W.F. van Dongen,Nicola Vanacore,Nicola Vanacore,John C. van Swieten,Alexis Brice,Giuseppe Meco,Cornelia M. van Duijn,Ben A. Oostra,Peter Heutink +19 more
TL;DR: It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.
Journal ArticleDOI
A promoter-level mammalian expression atlas
Alistair R. R. Forrest,Hideya Kawaji,Michael Rehli,J Kenneth Baillie,Michiel J. L. de Hoon,Vanja Haberle,Vanja Haberle,Timo Lassmann,Ivan V. Kulakovskiy,Ivan V. Kulakovskiy,Marina Lizio,Masayoshi Itoh,Robin Andersson,Christopher J. Mungall,Terrence F. Meehan,Sebastian Schmeier,Sebastian Schmeier,Nicolas Bertin,Mette C. Jørgensen,Emmanuel Dimont,Erik Arner,Christian Schmidl,Christian Schmidl,Ulf Schaefer,Yulia A. Medvedeva,Yulia A. Medvedeva,Charles Plessy,Morana Vitezic,Jessica Severin,Colin A. Semple,Yuri Ishizu,Robert Young,Margherita Francescatto,Margherita Francescatto,Intikhab Alam Altschuler,Davide Albanese,Gabriel M. Altschule,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,James Briggs,Frank Brombacher,Frank Brombacher,A. Maxwell Burroughs,Andrea Califano,Carlo Vittorio Cannistraci,Carlo Vittorio Cannistraci,Daniel Carbajo,Yun Chen,Marco Chierici,Yari Ciani,Hans Clevers,Hans 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,Alexander V. Favorov,Alexander V. Favorov,Malcolm E. Fisher,Martin C. Frith,Rie Fujita,Shiro Fukuda,Cesare Furlanello,Masaaki Furuno,Jun Ichi Furusawa,Teunis B. H. Geijtenbeek,Andrew P. Gibson,Thomas R. Gingeras,Dan Goldowitz,Julian Gough,Sven Guhl,Reto Guler,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 Hofmann,Ilka Hoof,Fumi 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,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,Weon Ju 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 M. 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,Tadasuke Nozaki,Soichi Ogishima,Soichi Ogishima,Naganari Ohkura,Hiroko Ohmiya,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 Prendergast,Owen J. L. Rackham,Jordan A. Ramilowski,Mamoon Rashid,Timothy Ravasi,Patrizia Rizzu,Marco Roncador,Sugata Roy,Morten Beck Rye,Eri Saijyo,Antti Sajantila,Akiko Saka,Shimon Sakaguchi,Mizuho Sakai,Hiroki Sato,Hironori Satoh,Suzana Savvi,Suzana Savvi,Alka Saxena,Claudio Schneider,Erik Anthony Schultes,Gundula G. Schulze-Tanzil,Anita Schwegmann,Anita Schwegmann,Thierry Sengstag,Guojun Sheng,Hisashi Shimoji,Yishai Shimoni,Jay W. Shin,Christophe Simon,Daisuke Sugiyama,Takaaki Sugiyama,Masanori Suzuki,Naoko Suzuki,Rolf Swoboda,Peter A C 't Hoen,Michihira Tagami,Naoko Takahashi Tagami,Jun Takai,Hiroshi Tanaka,Hideki Tatsukawa,Zuotian Tatum,Mark Thompson,Hiroo Toyoda,Tetsuro Toyoda,Eivind Valen,Marc van de Wetering,Linda M. van den Berg,Roberto Verardo,Dipti Vijayan,Ilya E. Vorontsov,Wyeth W. Wasserman,Shoko Watanabe,Christine A. Wells,Louise N. Winteringham,Ernst J. 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,Boris Lenhard,Lenhard Vladimir B. Bajic,Martin S. Taylor,Vsevolod J. Makeev,Vsevolod J. Makeev,Vsevolod J. Makeev,Albin Sandelin,David A. Hume,Piero Carninci,Yoshihide Hayashizaki +280 more
TL;DR: For example, the authors mapped transcription start sites (TSSs) and their usage in human and mouse primary cells, cell lines and tissues to produce a comprehensive overview of mammalian gene expression across the human body.
Journal ArticleDOI
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Mike A. Nalls,Cornelis Blauwendraat,Costanza L. Vallerga,Karl Heilbron,Sara Bandres-Ciga,Diana Chang,Manuela Tan,Demis A. Kia,Alastair J. Noyce,Alastair J. Noyce,Angli Xue,Jose Bras,Jose Bras,Emily Young,Rainer von Coelln,Javier Simón-Sánchez,Javier Simón-Sánchez,Claudia Schulte,Claudia Schulte,Manu Sharma,Lynne Krohn,Lynne Krohn,Lasse Pihlstrøm,Ari Siitonen,Ari Siitonen,Hirotaka Iwaki,Hirotaka Iwaki,Leonard H,Faraz Faghri,Faraz Faghri,J. Raphael Gibbs,Dena G. Hernandez,Sonja W. Scholz,Sonja W. Scholz,Juan A. Botía,Juan A. Botía,Maria Martinez,Maria Martinez,Jean-Christophe Corvol,Suzanne Lesage,Joseph Jankovic,Lisa M. Shulman,Margaret Sutherland,Pentti J. Tienari,Kari Majamaa,Kari Majamaa,Mathias Toft,Mathias Toft,Ole A. Andreassen,Ole A. Andreassen,Tushar Bangale,Alexis Brice,Jian Yang,Ziv Gan-Or,Ziv Gan-Or,Thomas Gasser,Thomas Gasser,Peter Heutink,Peter Heutink,Joshua M. Shulman,Nicholas W. Wood,David A. Hinds,John Hardy,Huw R. Morris,Jacob Gratten,Peter M. Visscher,Robert R. Graham,Andrew B. Singleton,Astrid Adarmes-Gómez,Miquel Aguilar,Akbota Aitkulova,Vadim Akhmetzhanov,Roy N. Alcalay,Ignacio Alvarez,Victoria Alvarez,Francisco J. Barrero,Jesús Alberto Bergareche Yarza,Inmaculada Bernal-Bernal,Kimberley Billingsley,Marta Blazquez,Marta Bonilla-Toribio,María Teresa Boungiorno,Kathrin Brockmann,Vivien J. Bubb,Dolores Buiza-Rueda,Ana Cámara,Fátima Carrillo,Mario Carrión-Claro,Debora Cerdan,Viorica Chelban,Jordi Clarimón,Carl E Clarke,Yaroslau Compta,Mark R. Cookson,David Craig,Fabrice Danjou,Monica Diez-Fairen,Oriol Dols-Icardo,Jacinto Duarte,Raquel Duran,Francisco Escamilla-Sevilla,Valentina Escott-Price,Mario Ezquerra,Cici Feliz,Manel Fernández,Rubén Fernández-Santiago,Steven Finkbeiner,Thomas Foltynie,Ciara Garcia,Pedro J. Garcia-Ruiz,Maria Jose Gomez Heredia,Pilar Gómez-Garre,Manuel Menéndez González,Isabel González-Aramburu,Sebastian Guelfi,Rita Guerreiro,John Hardy,Sharon Hassin-Baer,Janet Hoenicka,Peter Holmans,Henry Houlden,Jon Infante,Silvia Jesús,Adriano Jimenez-Escrig,Gulnaz Kaishybayeva,Rauan Kaiyrzhanov,Altynay Karimova,Kerri J. Kinghorn,Sulev Kõks,Jaime Kulisevsky,Miguel A. Labrador-Espinosa,Hampton L. Leonard,Patrick A. Lewis,Jose Lopez-Sendon,Ruth C. Lovering,Steven J. Lubbe,Codrin Lungu,Daniel Macias,Claudia Manzoni,Juan Marín,Johan Marinus,María José Martí,Irene Martínez Torres,Juan Carlos Martínez-Castrillo,Marina Mata,Niccolo E. Mencacci,Carlota Méndez-del-Barrio,Ben Middlehurst,Adolfo Mínguez,Pablo Mir,Kin Y. Mok,Esteban Muñoz,Derek P. Narendra,Oluwadamilola O. Ojo,Njideka U Okubadejo,Ana Gorostidi Pagola,Pau Pastor,Francisco Perez Errazquin,Teresa Periñán-Tocino,Helene Plun-Favreau,John P. Quinn,Lea R'Bibo,Xylena Reed,Elisabet Mondragon Rezola,Mie Rizig,Patrizia Rizzu,Laurie Robak,Antonio Sanchez Rodriguez,Guy A. Rouleau,Javier Ruiz-Martínez,Clara Ruz,Mina Ryten,Dinara Sadykova,Sebastian R Schreglmann,Chingiz Shashkin,María Sierra,Esther Suarez-Sanmartin,Pille Taba,Cesar Tabernero,Manuela X Tan,Juan Pablo Tartari,Cristina Tejera-Parrado,Eduard Tolosa,Daniah Trabzuni,Francesc Valldeoriola,Jacobus J. van Hilten,Kendall Van Keuren-Jensen,Laura Vargas-González,Lydia Vela,Francisco Vives,Nigel Williams,Nazira Zharkinbekova,Zharkyn Zharmukhanov,Elena Zholdybayeva,Alexander Zimprich,Pauli Ylikotila,Stephen G. Reich,Joseph M. Savitt,Michelle Agee,Babak Alipanahi,Adam Auton,Robert K. Bell,Katarzyna Bryc,Sarah L. Elson,Pierre Fontanillas,Nicholas A. Furlotte,Karen E. Huber,Barry W. Hicks,Ethan M. Jewett,Yunxuan Jiang,Aaron Kleinman,Keng-Han Lin,Nadia K. Litterman,Jennifer C. McCreight,Matthew H. McIntyre,Kimberly F. McManus,Joanna L. Mountain,Elizabeth S. Noblin,Carrie A.M. Northover,Steven J. Pitts,G. David Poznik,J. Fah Sathirapongsasuti,Janie F. Shelton,Suyash Shringarpure,Chao Tian,Joyce Y. Tung,Vladimir Vacic,Xin Wang,Catherine H. Wilson,Tim J. Anderson,Steven R. Bentley,John C. Dalrymple-Alford,Javed Fowdar,Glenda M. Halliday,Anjali K. Henders,Ian B. Hickie,Irfahan Kassam,Martin A. Kennedy,John B.J. Kwok,Simon J.G. Lewis,George D. Mellick,Grant W. Montgomery,John F. Pearson,Toni L. Pitcher,Julia Sidorenko,Peter A. Silburn,Leanne Wallace,Naomi R. Wray,Futao Zhang +248 more
TL;DR: These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified.
Journal ArticleDOI
Somatic retrotransposition alters the genetic landscape of the human brain
J Kenneth Baillie,Mark W. Barnett,Kyle R. Upton,Daniel J. Gerhardt,Todd Richmond,Fioravante De Sapio,Paul Brennan,Patrizia Rizzu,Sarah Smith,Mark Fell,Richard Talbot,Stefano Gustincich,Tom C. Freeman,John S. Mattick,David A. Hume,Peter Heutink,Piero Carninci,Jeffrey A. Jeddeloh,Geoffrey J. Faulkner +18 more
TL;DR: A high-throughput method is applied to identify numerous L1, Alu and SVA germline mutations, as well as 7,743 putative somatic L1 insertions, in the hippocampus and caudate nucleus of three individuals, demonstrating that retrotransposons mobilize to protein-coding genes differentially expressed and active in the brain.