P
Pentti J. Tienari
Researcher at University of Helsinki
Publications - 212
Citations - 20538
Pentti J. Tienari is an academic researcher from University of Helsinki. The author has contributed to research in topics: Population & Genome-wide association study. The author has an hindex of 52, co-authored 195 publications receiving 17293 citations. Previous affiliations of Pentti J. Tienari include University of Oulu & University of Massachusetts Medical School.
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Journal ArticleDOI
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton,Elisa Majounie,Adrian James Waite,Javier Simón-Sánchez,Javier Simón-Sánchez,Sara Rollinson,J. Raphael Gibbs,J. Raphael Gibbs,Jennifer C. Schymick,Hannu Laaksovirta,John C. van Swieten,John C. van Swieten,Liisa Myllykangas,Hannu Kalimo,Anders Paetau,Yevgeniya Abramzon,Anne M. Remes,Alice Kaganovich,Sonja W. Scholz,Sonja W. Scholz,Sonja W. Scholz,Jamie Duckworth,Jinhui Ding,Daniel W. Harmer,Dena G. Hernandez,Dena G. Hernandez,Janel O. Johnson,Janel O. Johnson,Kin Y. Mok,Mina Ryten,Danyah Trabzuni,Rita Guerreiro,Richard W. Orrell,James Neal,Alexandra Murray,J. P. Pearson,Iris E. Jansen,David Sondervan,Harro Seelaar,Derek J. Blake,Kate Young,Nicola Halliwell,Janis Bennion Callister,Greg Toulson,Anna Richardson,Alexander Gerhard,Julie S. Snowden,David M. A. Mann,David Neary,Mike A. Nalls,Terhi Peuralinna,Lilja Jansson,Veli-Matti Isoviita,Anna-Lotta Kaivorinne,Maarit Hölttä-Vuori,Elina Ikonen,Raimo Sulkava,Michael Benatar,Joanne Wuu,Adriano Chiò,Gabriella Restagno,Giuseppe Borghero,Mario Sabatelli,David Heckerman,Ekaterina Rogaeva,Lorne Zinman,Jeffrey D. Rothstein,Michael Sendtner,Carsten Drepper,Evan E. Eichler,Can Alkan,Ziedulla Abdullaev,Svetlana Pack,Amalia Dutra,Evgenia Pak,John Hardy,Andrew B. Singleton,Nigel Williams,Peter Heutink,Stuart Pickering-Brown,Huw R. Morris,Huw R. Morris,Huw R. Morris,Pentti J. Tienari,Bryan J. Traynor,Bryan J. Traynor +85 more
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Stephen Sawcer,Garrett Hellenthal,Matti Pirinen,Chris C. A. Spencer,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Loukas Moutsianas,Alexander T. Dilthey,Zhan Su,Colin Freeman,Sarah E. Hunt,Sarah Edkins,Emma Gray,David R. Booth,Simon C. Potter,An Goris,Gavin Band,Annette Bang Oturai,A. Strange,Janna Saarela,Céline Bellenguez,Bertrand Fontaine,Matthew W. Gillman,Bernhard Hemmer,Rhian Gwilliam,Frauke Zipp,Alagurevathi Jayakumar,Roland Martin,Stephen Leslie,Stanley Hawkins,Eleni Giannoulatou,Sandra D'Alfonso,Hannah Blackburn,Filippo Martinelli Boneschi,Jennifer Liddle,Hanne F. Harbo,Hanne F. Harbo,M. Perez,Anne Spurkland,Matthew Waller,Marcin P. Mycko,Michelle Ricketts,Manuel Comabella,Naomi Hammond,Ingrid Kockum,O. T. McCann,Maria Ban,Pamela Whittaker,Anu Kemppinen,Paul A. Weston,Clive Hawkins,Sara Widaa,John Zajicek,John Zajicek,Serge Dronov,Neil Robertson,Suzannah Bumpstead,Lisa F. Barcellos,Lisa F. Barcellos,Rathi Ravindrarajah,Roby Abraham,Lars Alfredsson,Kristin G. Ardlie,Cristin Aubin,Amie Baker,K Baker,Sergio E. Baranzini,Laura Bergamaschi,Roberto Bergamaschi,Allan L. Bernstein,Achim Berthele,Mike Boggild,Jonathan P. Bradfield,David Brassat,Simon Broadley,Dorothea Buck,Helmut Butzkueven,Ruggero Capra,William M. Carroll,Paola Cavalla,Elisabeth Gulowsen Celius,Sabine Cepok,Rosetta M. Chiavacci,Françoise Clerget-Darpoux,Katleen Clysters,Giancarlo Comi,Mark D. Cossburn,Isabelle Cournu-Rebeix,M. B. Cox,Wendy Cozen,Bruce A.C. Cree,Anne H. Cross,Daniele Cusi,Mark J. Daly,Mark J. Daly,Emma J. Davis,Paul I.W. de Bakker,Paul I.W. de Bakker,Paul I.W. de Bakker,Marc Debouverie,Marie B. D'hooghe,K Dixon,Rita Dobosi,Bénédicte Dubois,David Ellinghaus,Irina Elovaara,Federica Esposito,Claire Fontenille,Simon J. Foote,Andre Franke,Daniela Galimberti,Angelo Ghezzi,Joseph T. Glessner,Refujia Gomez,Olivier Gout,Colin A. Graham,Struan F.A. Grant,Struan F.A. Grant,Franca Rosa Guerini,Hakon Hakonarson,Hakon Hakonarson,Per Hall,Anders Hamsten,Hans-Peter Hartung,Robert Heard,Simon Heath,Jeremy Hobart,Jeremy Hobart,Muna Hoshi,Carmen Infante-Duarte,Gillian Ingram,Wendy Ingram,Wendy Ingram,Talat Islam,Maja Jagodic,Michael Kabesch,Allan G. Kermode,Trevor J. Kilpatrick,Cecilia Kim,Norman Klopp,Keijo Koivisto,Malin Larsson,Mark Lathrop,Jeannette Lechner-Scott,Maurizio Leone,Virpi M. Leppä,Ulrika Liljedahl,Izaura Lima Bomfim,Robin R. Lincoln,Jenny Link,Jianjun Liu,Åslaug R. Lorentzen,Åslaug R. Lorentzen,Sara Lupoli,Fabio Macciardi,Fabio Macciardi,Thomas M. Mack,Mark Marriott,Vittorio Martinelli,Deborah F. Mason,Jacob L. McCauley,Frank D. Mentch,Inger-Lise Mero,Tania Mihalova,Xavier Montalban,John Mottershead,Kjell-Morten Myhr,Paola Naldi,William E R Ollier,Alison Page,Aarno Palotie,Jean Pelletier,Laura Piccio,Trevor Pickersgill,Fredrik Piehl,Susan Pobywajlo,Hong L. Quach,Patricia P. Ramsay,Mauri Reunanen,Richard Reynolds,John D. Rioux,John D. Rioux,Mariaemma Rodegher,Sabine Roesner,Justin P. Rubio,Ina-Maria Rueckert,Marco Salvetti,Erika Salvi,Adam Santaniello,Catherine Schaefer,Stefan Schreiber,Christian Schulze,Rodney J. Scott,Finn Sellebjerg,Krzysztof Selmaj,David Sexton,Ling Shen,Brigid Simms-Acuna,Sheila Skidmore,Patrick M. A. Sleiman,C. Smestad,Per Soelberg Sørensen,Helle Bach Søndergaard,Jim Stankovich,Richard C. Strange,Anna-Maija Sulonen,Emilie Sundqvist,Ann-Christine Syvaenen,Francesca Taddeo,Bruce V. Taylor,Jenefer M. Blackwell,Jenefer M. Blackwell,Jenefer M. Blackwell,Pentti J. Tienari,Elvira Bramon,Ayman Tourbah,Matthew A. Brown,Ewa Tronczynska,Juan P. Casas,Niall Tubridy,Aiden Corvin,Jane Vickery,Jane Vickery,Janusz Jankowski,Pablo Villoslada,Hugh S. Markus,Kai Wang,Christopher G. Mathew,James Wason,Colin N. A. Palmer,H-Erich Wichmann,H-Erich Wichmann,Robert Plomin,Ernest Willoughby,Anna Rautanen,Juliane Winkelmann,Michael Wittig,Richard C. Trembath,J. Yaouanq,Ananth C. Viswanathan,Ananth C. Viswanathan,Haitao Zhang,Nicholas W. Wood,Rebecca L. Zuvich,Panos Deloukas,Cordelia Langford,Audrey Duncanson,Jorge R. Oksenberg,Margaret A. Pericak-Vance,Jonathan L. Haines,Tomas Olsson,Jan Hillert,Adrian J. Ivinson,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Leena Peltonen,Graeme J. Stewart,David A. Hafler,David A. Hafler,Stephen L. Hauser,Gil McVean,Peter Donnelly,Peter Donnelly,Alastair Compston +265 more
TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.
Journal ArticleDOI
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Ashley Beecham,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Dionysia K. Xifara,Mary F. Davis,Anu Kemppinen,Chris Cotsapas,Chris Cotsapas,Tejas S. Shah,Chris C. A. Spencer,David R. Booth,An Goris,Annette Bang Oturai,Janna Saarela,Bertrand Fontaine,Bernhard Hemmer,C. Martin,Frauke Zipp,Sandra D'Alfonso,Filippo Martinelli-Boneschi,Bruce V. Taylor,Hanne F. Harbo,Ingrid Kockum,Jan Hillert,Tomas Olsson,Maria Ban,Jorge R. Oksenberg,Rogier Q. Hintzen,Lisa F. Barcellos,Lisa F. Barcellos,Lisa F. Barcellos,Cristina Agliardi,Lars Alfredsson,Mehdi Alizadeh,Carl A. Anderson,Robert Andrews,Helle Bach Søndergaard,Amie Baker,Gavin Band,Sergio E. Baranzini,Nadia Barizzone,Jeffrey C. Barrett,Céline Bellenguez,Laura Bergamaschi,Luisa Bernardinelli,Achim Berthele,Viola Biberacher,Thomas M.C. Binder,Hannah Blackburn,Izaura Lima Bomfim,Paola Brambilla,Simon Broadley,Bruno Brochet,Lou Brundin,Dorothea Buck,Helmut Butzkueven,Helmut Butzkueven,Stacy J. Caillier,William Camu,Wassila Carpentier,Paola Cavalla,Elisabeth Gulowsen Celius,Irene Coman,Giancarlo Comi,Lucia Corrado,Leentje Cosemans,Isabelle Cournu-Rebeix,Bruce A.C. Cree,Daniele Cusi,Vincent Damotte,Gilles Defer,Silvia Delgado,Panos Deloukas,Alessia Di Sapio,Alexander T. Dilthey,Peter Donnelly,Bénédicte Dubois,Martin Duddy,Sarah Edkins,Irina Elovaara,Federica Esposito,Nikos Evangelou,Barnaby Fiddes,Judith Field,Andre Franke,Colin Freeman,Irene Y. Frohlich,Daniela Galimberti,Christian Gieger,Pierre-Antoine Gourraud,Christiane Graetz,Andrew Graham,Verena Grummel,Clara Guaschino,Athena Hadjixenofontos,Hakon Hakonarson,Christopher Halfpenny,Gillian L Hall,Per Hall,Anders Hamsten,James Harley,Timothy Harrower,Clive Hawkins,Garrett Hellenthal,Charles Hillier,Jeremy Hobart,M.-M. Hoshi,Sarah E. Hunt,Maja Jagodic,Ilijas Jelcic,Ilijas Jelcic,Angela Jochim,B. E. Kendall,Allan G. Kermode,Allan G. Kermode,Trevor J. Kilpatrick,Keijo Koivisto,Ioanna Konidari,Thomas Korn,Helena C. Kronsbein,Cordelia Langford,Malin Larsson,Mark Lathrop,Mark Lathrop,Christine Lebrun-Frenay,Jeannette Lechner-Scott,Michelle Lee,Maurizio Leone,Virpi Leppa,Giuseppe Liberatore,Benedicte A. Lie,Christina M. Lill,Christina M. Lill,Magdalena Lindén,Jenny Link,Felix Luessi,Jan Lycke,Fabio Macciardi,Fabio Macciardi,Satu Männistö,Clara P. Manrique,Roland Martin,Roland Martin,Vittorio Martinelli,Deborah F. Mason,Gordon Mazibrada,Cristin McCabe,Inger Lise Mero,Julia Y Mescheriakova,Loukas Moutsianas,Kjell-Morten Myhr,Guy Nagels,Richard Nicholas,Petra Nilsson,Fredrik Piehl,Matti Pirinen,Siân Price,Hong Quach,Mauri Reunanen,Wim Robberecht,Neil Robertson,Mariaemma Rodegher,David Rog,Marco Salvetti,Nathalie Schnetz-Boutaud,Finn Sellebjerg,Rebecca C. Selter,Catherine Schaefer,Sandip Shaunak,Ling Shen,Simon Shields,Volker Siffrin,Mark Slee,Per Soelberg Sørensen,Melissa Sorosina,Mireia Sospedra,Mireia Sospedra,Anne Spurkland,Amy Strange,Emilie Sundqvist,Vincent Thijs,J W Thorpe,Anna Ticca,Pentti J. Tienari,Cornelia M. van Duijn,Elizabeth Visser,Steve Vucic,Helga Westerlind,James S. Wiley,Alastair Wilkins,James F. Wilson,Juliane Winkelmann,John Zajicek,Eva Zindler,Jonathan L. Haines,Margaret A. Pericak-Vance,Adrian J. Ivinson,Graeme J. Stewart,David A. Hafler,David A. Hafler,Stephen L. Hauser,Alastair Compston,Gil McVean,Philip L. De Jager,Philip L. De Jager,Stephen Sawcer,Jacob L. McCauley +206 more
TL;DR: This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie,Alan E. Renton,Kin Y. Mok,Elise G.P. Dopper,Elise G.P. Dopper,Adrian James Waite,Sara Rollinson,Adriano Chiò,Gabriella Restagno,Nayia Nicolaou,Nayia Nicolaou,Javier Simón-Sánchez,Javier Simón-Sánchez,John C. van Swieten,John C. van Swieten,Yevgeniya Abramzon,Janel O. Johnson,Michael Sendtner,Roger Pamphlett,Richard W. Orrell,Simon Mead,Katie C. L. Sidle,Henry Houlden,Jonathan D. Rohrer,Karen E. Morrison,Hardev Pall,Kevin Talbot,Olaf Ansorge,Dena G. Hernandez,Sampath Arepalli,Mario Sabatelli,Gabriele Mora,Massimo Corbo,Fabio Giannini,Andrea Calvo,Elisabet Englund,Giuseppe Borghero,Gian Luca Floris,Anne M. Remes,Hannu Laaksovirta,Leo McCluskey,John Q. Trojanowski,Vivianna M. Van Deerlin,Gerard D. Schellenberg,Mike A. Nalls,Vivian E. Drory,Chin-Song Lu,Chin-Song Lu,Tu-Hsueh Yeh,Tu-Hsueh Yeh,Hiroyuki Ishiura,Yuji Takahashi,Shoji Tsuji,Isabelle Le Ber,Isabelle Le Ber,Isabelle Le Ber,Alexis Brice,Alexis Brice,Alexis Brice,Carsten Drepper,Nigel Williams,Janine Kirby,Pamela J. Shaw,John Hardy,Pentti J. Tienari,Peter Heutink,Huw R. Morris,Huw R. Morris,Huw R. Morris,Stuart Pickering-Brown,Bryan J. Traynor,Bryan J. Traynor +71 more
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.