M
Massimo Pandolfo
Researcher at Université libre de Bruxelles
Publications - 306
Citations - 24183
Massimo Pandolfo is an academic researcher from Université libre de Bruxelles. The author has contributed to research in topics: Ataxia & Frataxin. The author has an hindex of 73, co-authored 300 publications receiving 21867 citations. Previous affiliations of Massimo Pandolfo include Montreal Neurological Institute and Hospital & Instituto de Biologia Molecular e Celular.
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Journal ArticleDOI
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano,Laura Montermini,María Dolores Moltó,Luigi Pianese,Mireille Cossée,F Cavalcanti,Eugenia Monros,François Rodius,Franck Duclos,Antonella Monticelli,Federico Zara,Joaquín Cañizares,Hana Koutnikova,Sanjay I. Bidichandani,Cinzia Gellera,Alexis Brice,Paul Trouillas,Giuseppe De Michele,Alessandro Filla,Rosa de Frutos,Francisco Palau,Pragna Patel,Stefano Di Donato,Jean-Louis Mandel,Sergio Cocozza,Michel Koenig,Massimo Pandolfo +26 more
TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Journal ArticleDOI
Scale for the assessment and rating of ataxia: development of a new clinical scale.
T. Schmitz-Hübsch,S. Tezenas du Montcel,Laszlo Baliko,José Berciano,S Boesch,Chantal Depondt,Paola Giunti,C. Globas,Jon Infante,J-S Kang,Berry Kremer,Christian Mariotti,Béla Melegh,Massimo Pandolfo,Maryla Rakowicz,P Ribai,Rafał Rola,Ludger Schöls,Sandra Szymanski,B.P.C. van de Warrenburg,Alexandra Durr,Thomas Klockgether,Roberto Fancellu +22 more
TL;DR: The Scale for the Assessment and Rating of Ataxia is a reliable and valid measure of ataxia, making it an appropriate primary outcome measure for clinical trials.
Journal ArticleDOI
Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin
Michael Babcock,Michael Babcock,Deepika de Silva,Deepika de Silva,Robert Oaks,Robert Oaks,Sandra Davis-Kaplan,Sandra Davis-Kaplan,Sarn Jiralerspong,Sarn Jiralerspong,Laura Montermini,Laura Montermini,Massimo Pandolfo,Massimo Pandolfo,Jerry Kaplan,Jerry Kaplan +15 more
TL;DR: Characterizing the mechanism by which YFH1 regulates iron homeostasis in yeast may help to define the pathologic process leading to cell damage in Friedreich's ataxia.
Journal ArticleDOI
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans
Mark McCormack,Ana Alfirevic,Stephane Bourgeois,John J. Farrell,Dalia Kasperavičiūtė,Mary Carrington,Graeme J. Sills,Tony Marson,Xiaoming Jia,Paul I.W. de Bakker,Krishna Chinthapalli,Mariam Molokhia,Marvin Johnson,Gerard D. O'Connor,Elijah Chaila,Saud Alhusaini,Kevin V. Shianna,Rodney A. Radtke,Erin L. Heinzen,Nicole M. Walley,Massimo Pandolfo,Werner J. Pichler,B. Kevin Park,Chantal Depondt,Sanjay M. Sisodiya,David Goldstein,Panos Deloukas,Norman Delanty,Norman Delanty,Gianpiero L. Cavalleri,Munir Pirmohamed +30 more
TL;DR: The presence of the HLA-A*3101 allele was associated with carbamazepine-induced hypersensitivity reactions among subjects of Northern European ancestry.
Journal ArticleDOI
Common genetic variants influence human subcortical brain structures.
Derrek P. Hibar,Jason L. Stein,Jason L. Stein,Miguel E. Rentería,Alejandro Arias-Vasquez,Sylvane Desrivières,Neda Jahanshad,Roberto Toro,Roberto Toro,Katharina Wittfeld,Katharina Wittfeld,Lucija Abramovic,Micael Andersson,Benjamin S. Aribisala,Benjamin S. Aribisala,Nicola J. Armstrong,Nicola J. Armstrong,Manon Bernard,Marc M. Bohlken,Marco P. Boks,Janita Bralten,Andrew A. Brown,M. Mallar Chakravarty,M. Mallar Chakravarty,Qiang Chen,Christopher R.K. Ching,Christopher R.K. Ching,Gabriel Cuellar-Partida,Anouk den Braber,Sudheer Giddaluru,Aaron Goldman,Oliver Grimm,Tulio Guadalupe,Johanna Hass,Girma Woldehawariat,Avram J. Holmes,Avram J. Holmes,Martine Hoogman,Deborah Janowitz,Tianye Jia,Sungeun Kim,Marieke Klein,Bernd Kraemer,Phil Lee,Phil Lee,Loes M. Olde Loohuis,Michelle Luciano,Christine Macare,Karen A. Mather,Manuel Mattheisen,Manuel Mattheisen,Yuri Milaneschi,Kwangsik Nho,Martina Papmeyer,Adaikalavan Ramasamy,Adaikalavan Ramasamy,Shannon L. Risacher,Roberto Roiz-Santiañez,Emma J. Rose,Alireza Salami,Alireza Salami,Philipp G. Sämann,Lianne Schmaal,Andrew J. Schork,Jean Shin,Lachlan T. Strike,Lachlan T. Strike,Alexander Teumer,Marjolein M.J. van Donkelaar,Kristel R. van Eijk,Raymond K. Walters,Raymond K. Walters,Lars T. Westlye,Christopher D. Whelan,Anderson M. Winkler,Anderson M. Winkler,Marcel P. Zwiers,Saud Alhusaini,Saud Alhusaini,Lavinia Athanasiu,Stefan Ehrlich,Stefan Ehrlich,Marina Hakobjan,Cecilie B. Hartberg,Unn K. Haukvik,Angelien Heister,D. Hoehn,Dalia Kasperaviciute,Dalia Kasperaviciute,David C. Liewald,Lorna M. Lopez,Remco R. R. Makkinje,Mar Matarin,Marlies Naber,D. Reese McKay,Margaret Needham,Allison C. Nugent,Benno Pütz,Natalie A. Royle,Li Shen,Emma Sprooten,Emma Sprooten,Daniah Trabzuni,Daniah Trabzuni,Saskia S. L. van der Marel,Kimm J. E. van Hulzen,Esther Walton,Christiane Wolf,Laura Almasy,Laura Almasy,David Ames,David Ames,Sampath Arepalli,Amelia A. Assareh,Mark E. Bastin,Henry Brodaty,Kazima B. Bulayeva,Melanie A. Carless,Sven Cichon,Sven Cichon,Aiden Corvin,Joanne E. Curran,Michael Czisch,Greig I. de Zubicaray,Allissa Dillman,Ravi Duggirala,Thomas D. Dyer,Thomas D. Dyer,Susanne Erk,Iryna O. Fedko,Luigi Ferrucci,Tatiana Foroud,Peter T. Fox,Peter T. Fox,Masaki Fukunaga,J. Raphael Gibbs,J. Raphael Gibbs,Harald H H Göring,Robert C. Green,Sebastian Guelfi,Narelle K. Hansell,Catharina A. Hartman,Katrin Hegenscheid,Andreas Heinz,Dena G. Hernandez,Dena G. Hernandez,Dirk J. Heslenfeld,Pieter J. Hoekstra,Florian Holsboer,Georg Homuth,Jouke-Jan Hottenga,Masashi Ikeda,Clifford R. Jack,Mark Jenkinson,Robert Johnson,Ryota Kanai,Ryota Kanai,Maria Keil,Jack W. Kent,Peter Kochunov,John B.J. Kwok,John B.J. Kwok,Stephen M. Lawrie,Xinmin Liu,Xinmin Liu,Dan L. Longo,Katie L. McMahon,Eva M. Meisenzahl,Ingrid Melle,Sebastian Mohnke,Grant W. Montgomery,Jeanette C. Mostert,Thomas W. Mühleisen,Mike A. Nalls,Thomas E. Nichols,Thomas E. Nichols,Lars Nilsson,Markus M. Nöthen,Kazutaka Ohi,Rene L. Olvera,Rocío Pérez-Iglesias,G. Bruce Pike,Steven G. Potkin,Ivar Reinvang,Simone Reppermund,Marcella Rietschel,Nina Romanczuk-Seiferth,Glenn D. Rosen,Dan Rujescu,Knut Schnell,Peter R. Schofield,Peter R. Schofield,Colin Smith,Vidar M. Steen,Jessika E. Sussmann,Anbupalam Thalamuthu,Arthur W. Toga,Bryan J. Traynor,Juan C. Troncoso,Jessica A. Turner,Maria C. Valdés Hernández,Dennis van 't Ent,Marcel P. van der Brug,Nic J.A. van der Wee,Marie-José van Tol,Dick J. Veltman,Thomas H. Wassink,Eric Westman,Ronald H. Zielke,Alan B. Zonderman,David G. Ashbrook,Reinmar Hager,Lu Lu,Lu Lu,Francis J. McMahon,Derek W. Morris,Derek W. Morris,Robert W. Williams,Han G. Brunner,Han G. Brunner,Randy L. Buckner,Jan K. Buitelaar,Wiepke Cahn,Vince D. Calhoun,Vince D. Calhoun,Gianpiero L. Cavalleri,Benedicto Crespo-Facorro,Anders M. Dale,Gareth E. Davies,Norman Delanty,Norman Delanty,Chantal Depondt,Srdjan Djurovic,Wayne C. Drevets,Wayne C. Drevets,Thomas Espeseth,Randy L. Gollub,Beng-Choon Ho,Wolfgang Hoffmann,Wolfgang Hoffmann,Norbert Hosten,René S. Kahn,Stephanie Le Hellard,Andreas Meyer-Lindenberg,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Matthias Nauck,Lars Nyberg,Massimo Pandolfo,Brenda W.J.H. Penninx,Joshua L. Roffman,Sanjay M. Sisodiya,Jordan W. Smoller,Jordan W. Smoller,Hans van Bokhoven,Neeltje E.M. van Haren,Henry Völzke,Henrik Walter,Michael W. Weiner,Wei Wen,Tonya White,Ingrid Agartz,Ingrid Agartz,Ole A. Andreassen,John Blangero,John Blangero,Dorret I. Boomsma,Rachel M. Brouwer,Dara M. Cannon,Dara M. Cannon,Mark R. Cookson,Eco J. C. de Geus,Ian J. Deary,Gary Donohoe,Gary Donohoe,Guillén Fernández,Simon E. Fisher,Simon E. Fisher,Clyde Francks,Clyde Francks,David C. Glahn,Hans J. Grabe,Oliver Gruber,Oliver Gruber,John Hardy,Ryota Hashimoto,Hilleke E. Hulshoff Pol,Erik G. Jönsson,Erik G. Jönsson,Iwona Kłoszewska,Simon Lovestone,Simon Lovestone,Venkata S. Mattay,Patrizia Mecocci,Colm McDonald,Andrew M. McIntosh,Roel A. Ophoff,Roel A. Ophoff,Tomáš Paus,Zdenka Pausova,Mina Ryten,Mina Ryten,Perminder S. Sachdev,Andrew J. Saykin,Andrew J. Saykin,Andrew Simmons,Andrew B. Singleton,Hilkka Soininen,Joanna M. Wardlaw,Michael E. Weale,Daniel R. Weinberger,Hieab H.H. Adams,Lenore J. Launer,Stephan Seiler,Reinhold Schmidt,Ganesh Chauhan,Claudia L. Satizabal,Claudia L. Satizabal,James T. Becker,Lisa R. Yanek,Sven J. van der Lee,Maritza Ebling,Bruce Fischl,Bruce Fischl,W. T. Longstreth,Douglas N. Greve,Helena Schmidt,Paul A. Nyquist,Louis N. Vinke,Cornelia M. van Duijn,Luting Xue,Bernard Mazoyer,Joshua C. Bis,Vilmundur Gudnason,Sudha Seshadri,Sudha Seshadri,M. Arfan Ikram,Nicholas G. Martin,Margaret J. Wright,Margaret J. Wright,Gunter Schumann,Barbara Franke,Barbara Franke,Paul M. Thompson,Sarah E. Medland +344 more
TL;DR: In this paper, the authors conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts.