J
Jean Philippe Brandel
Researcher at Harvard University
Publications - 12
Citations - 1473
Jean Philippe Brandel is an academic researcher from Harvard University. The author has contributed to research in topics: Age of onset & Clinical trial. The author has an hindex of 10, co-authored 12 publications receiving 1287 citations. Previous affiliations of Jean Philippe Brandel include French Institute of Health and Medical Research & Centre national de la recherche scientifique.
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Journal ArticleDOI
Genetic prion disease: the EUROCJD experience.
Gabor G. Kovacs,Maria Puopolo,Anna Ladogana,Maurizio Pocchiari,Herbert Budka,Cornelia M. van Duijn,Steven J. Collins,Alison Boyd,Antonio Giulivi,Mike Coulthart,N. Delasnerie-Laupretre,Jean Philippe Brandel,Inga Zerr,Hans A. Kretzschmar,Jesús de Pedro-Cuesta,Miguel Calero-Lara,Markus Glatzel,Adriano Aguzzi,Matthew Bishop,Richard Knight,Girma Belay,Robert G. Will,Eva Mitrova +22 more
TL;DR: The authors' results show that clinicopathological phenotypes include genetic Creutzfeldt–Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker disease (GSS).
Journal ArticleDOI
Quantifying prion disease penetrance using large population control cohorts
Eric Vallabh Minikel,Eric Vallabh Minikel,Sonia M Vallabh,Sonia M Vallabh,Monkol Lek,Monkol Lek,Karol Estrada,Karol Estrada,Kaitlin E. Samocha,Kaitlin E. Samocha,J. Fah Sathirapongsasuti,Cory Y. McLean,Joyce Y. Tung,Linda P.C. Yu,Pierluigi Gambetti,Janis Blevins,Shulin Na Zhang,Yvonne Cohen,Wei Chen,Masahito Yamada,Tsuyoshi Hamaguchi,Nobuo Sanjo,Hidehiro Mizusawa,Yosikazu Nakamura,Tetsuyuki Kitamoto,Steven J. Collins,Alison Boyd,Robert G. Will,Richard Knight,Claudia Ponto,Inga Zerr,Theo F. J. Kraus,Sabina Eigenbrod,Armin Giese,Miguel Calero,Jesús de Pedro-Cuesta,Stéphane Haïk,Jean-Louis Laplanche,Elodie Bouaziz-Amar,Jean Philippe Brandel,Sabina Capellari,Piero Parchi,Anna Poleggi,Anna Ladogana,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Konrad J. Karczewski,Konrad J. Karczewski,Jamie L. Marshall,Jamie L. Marshall,Michael Boehnke,Markku Laakso,Karen L. Mohlke,Anna K. Kähler,Kimberly Chambert,Steven A. McCarroll,Patrick F. Sullivan,Patrick F. Sullivan,Christina M. Hultman,Shaun Purcell,Pamela Sklar,Sven J. van der Lee,Annemieke J. M. Rozemuller,Casper Jansen,Albert Hofman,Robert Kraaij,Jeroen van Rooij,M. Arfan Ikram,André G. Uitterlinden,Cornelia M. van Duijn,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +73 more
TL;DR: It is shown that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence, a finding that supports the safety of therapeutic suppression of prion protein expression.
Journal ArticleDOI
What is the accuracy of the clinical diagnosis of multiple system atrophy?: A clinicopathologic study
Irene Litvan,Christopher G. Goetz,Joseph Jankovic,Gregory K. Wenning,Valencia Booth,John J. Bartko,Ann C. McKee,Kurt A. Jellinger,Eugene C. Lai,Jean Philippe Brandel,Marc Verny,K. Ray Chaudhuri,R. K. B. Pearce,Yves Agid +13 more
TL;DR: The low sensitivity for the clinical diagnosis of MSA, particularly among neurologists who followed up these patients in the tertiary centers, suggests that this disorder is underdiagnosed.
Journal ArticleDOI
Prions in the Urine of Patients with Variant Creutzfeldt–Jakob Disease
Fabio Moda,Pierluigi Gambetti,Silvio Notari,Luis Concha-Marambio,Marcella Catania,Kyung-Won Park,Emanuela Maderna,Silvia Suardi,Stéphane Haïk,Jean Philippe Brandel,James W. Ironside,Richard Knight,Fabrizio Tagliavini,Claudio Soto +13 more
TL;DR: PrP(Sc) was detectable only in the urine of patients with variant Creutzfeldt-Jakob disease and had the typical electrophoretic profile associated with this disease.
Journal ArticleDOI
Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial.
Stéphane Haïk,Gabriella Marcon,Gabriella Marcon,Alain Mallet,Mauro Tettamanti,Arlette Welaratne,Giorgio Giaccone,Shohreh Azimi,V. Pietrini,Jean Roch Fabreguettes,Daniele Imperiale,Pierre Cesaro,Carlo Buffa,Christophe Aucan,Ugo Lucca,Laurène Peckeu,Silvia Suardi,Christine Tranchant,Inga Zerr,Caroline Houillier,Veronica Redaelli,Hervé Vespignani,Angela Campanella,François Sellal,Anna Krasnianski,Danielle Seilhean,Uta Heinemann,Frédéric Sedel,Mara Canovi,Marco Gobbi,Giuseppe Di Fede,Jean-Louis Laplanche,Maurizio Pocchiari,Mario Salmona,Gianluigi Forloni,Jean Philippe Brandel,Fabrizio Tagliavini +36 more
TL;DR: Doxycycline at a dose of 100 mg per day was well tolerated but did not significantly affect the course of CJD, at variance with the results of previous observational studies.