Massimo Pandolfo

Massimo Pandolfo

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Massimo Pandolfo

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Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia.

Clin Neurophysiol 2019 Aug 11;130(8):1299-1310. Epub 2019 May 11.

Laboratoire de Cartographie fonctionnelle du Cerveau (LCFC), UNI - ULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels, Belgium; Magnetoencephalography Unit, Department of Functional Neuroimaging, Service of Nuclear Medicine, CUB Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Belgium.

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http://dx.doi.org/10.1016/j.clinph.2019.05.003DOI Listing
August 2019

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.

Neurology 2019 Jul 13;93(2):e116-e124. Epub 2019 Jun 13.

From the Laboratoire de Cartographie Fonctionnelle du Cerveau (B.M., G.N., M.B., V.W., S.G., X.D.T.) and Laboratoire Cognition Langage et Développement (M.B.), ULB Neuroscience Institute, and Department of Neurology (G.N., M.P.) and Department of Functional Neuroimaging (V.W., X.D.T., S.G.), Service of Nuclear Medicine, CUB Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Belgium; Basque Center on Cognition, Brain and Language (M.B.), Donostia, Spain; Department of Neuroscience and Biomedical Engineering (V.J.), School of Science, Aalto University, Espoo, Finland; Children's Hospital of Philadelphia (D.R.L., W.G.), PA; and Department of Art (R.H.), Aalto University, Helsinki, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007750DOI Listing
July 2019

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

J Neuromuscul Dis 2018 ;5(4):471-480

Department of Neurology, Centre de Référence Neuromusculaire, Hôpital Erasme, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JND-180336DOI Listing
January 2019

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Neurology 2018 09 10;91(10):e917-e930. Epub 2018 Aug 10.

From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000006121DOI Listing
September 2018

2017 Year in Review and Message from the Editors to Our Reviewers.

Neurol Genet 2018 Feb 16;4(1):e221. Epub 2018 Feb 16.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), Coral Gables, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852863PMC
February 2018

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Ann Neurol 2017 Dec 21;82(6):892-899. Epub 2017 Nov 21.

Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/ana.25084DOI Listing
December 2017

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

Orphanet J Rare Dis 2017 09 26;12(1):158. Epub 2017 Sep 26.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13023-017-0709-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615455PMC
September 2017

This variant alters protein function, but is it pathogenic?

Authors:
Massimo Pandolfo

Neurol Genet 2017 Aug 14;3(4):e173. Epub 2017 Jul 14.

Department of Neurology, Hôpital Erasme and Laboratory of Experimental Neurology, Université Libre de Bruxelles, Belgium.

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http://dx.doi.org/10.1212/NXG.0000000000000173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511245PMC
August 2017

HLA genotype as a marker of multiple sclerosis prognosis: A pilot study.

J Neurol Sci 2017 Apr 16;375:348-354. Epub 2017 Feb 16.

Icometrix, Begaultlaan 1b, 3012 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.jns.2017.02.019DOI Listing
April 2017

2016 in Review and Message from the Editors to our Reviewers.

Neurol Genet 2017 Feb 15;3(1):e132. Epub 2017 Feb 15.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital de la Salpêtrière (A.D.), Paris, France; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), FL.

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http://dx.doi.org/10.1212/NXG.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314733PMC
February 2017

Novel genetic loci associated with hippocampal volume.

Authors:
Derrek P Hibar Hieab H H Adams Neda Jahanshad Ganesh Chauhan Jason L Stein Edith Hofer Miguel E Renteria Joshua C Bis Alejandro Arias-Vasquez M Kamran Ikram Sylvane Desrivières Meike W Vernooij Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Ashley H Beecham Alexa Beiser Manon Bernard Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Qiang Chen Christopher R K Ching Vincent Chouraki Gabriel Cuellar-Partida Fabrice Crivello Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Oliver Grimm Michael E Griswold Tulio Guadalupe Boris A Gutman Johanna Hass Unn K Haukvik David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Kjetil N Jørgensen Nazanin Karbalai Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre F Marquand Mar Matarin Karen A Mather Manuel Mattheisen David R McKay Yuri Milaneschi Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Paul Nyquist Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Lukas Pirpamer Benno Pütz Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Stefan Ropele Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Arvin Saremi Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Stella Trompet Dhananjay Vaidya Jeroen Van der Grond Sven J Van der Lee Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf Thomas Wolfers Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Anton J M De Craen Eco J C De Geus Philip L De Jager Greig I De Zubicaray Ian J Deary Stéphanie Debette Charles DeCarli Norman Delanty Chantal Depondt Anita DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Christian Enzinger Susanne Erk Thomas Espeseth Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Myriam Fornage Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Asta K Håberg Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Matthew Huentelman Hilleke E Hulshoff Pol Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Helena Schmidt Peter R Schofield Sigurdur Sigursson Andrew Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Magda Tsolaki Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad van der Lugt Nic J A van der Wee Neeltje E M Van Haren Dennis van 't Ent Marie-Jose Van Tol Badri N Vardarajan Bruno Vellas Dick J Veltman Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright Ronald H Zielke Alan B Zonderman Nicholas G Martin Cornelia M Van Duijn Margaret J Wright W T Longstreth Gunter Schumann Hans J Grabe Barbara Franke Lenore J Launer Sarah E Medland Sudha Seshadri Paul M Thompson M Arfan Ikram

Nat Commun 2017 01 18;8:13624. Epub 2017 Jan 18.

Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms13624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253632PMC
January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Authors:
Hieab H H Adams Derrek P Hibar Vincent Chouraki Jason L Stein Paul A Nyquist Miguel E Rentería Stella Trompet Alejandro Arias-Vasquez Sudha Seshadri Sylvane Desrivières Ashley H Beecham Neda Jahanshad Katharina Wittfeld Sven J Van der Lee Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Alexa Beiser Manon Bernard Joshua C Bis Laura M E Blanken Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Ganesh Chauhan Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Irina Filippi Tian Ge Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Corina U Greven Oliver Grimm Michael E Griswold Tulio Guadalupe Johanna Hass Unn K Haukvik Saima Hilal Edith Hofer David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Jiemin Liao David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre Marquand Mar Matarin Karen A Mather Manuel Mattheisen Bernard Mazoyer David R McKay Rebekah McWhirter Yuri Milaneschi Nazanin Mirza-Schreiber Ryan L Muetzel Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz Kumar B Rajan Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Russell Thomson Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Dhananjay Vaidya Jeroen Van der Grond Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Girma Woldehawariat Christiane Wolf Thomas Wolfers Bing Xu Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Neelum T Aggarwal Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Christopher Chen Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Eco J C De Geus Philip L De Jager Greig I de Zubicaray Norman Delanty Chantal Depondt Anita L DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Susanne Erk Thomas Espeseth Denis A Evans Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Hans J Grabe Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Masashi Ikeda M Kamran Ikram Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo W T Longstreth Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Katie L McMahon Francis J McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Peter R Schofield Sigurdur Sigurdsson Andy Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Velandai Srikanth Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Henning Tiemeier Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad Van der Lugt Nic J A Van der Wee Cornelia M Van Duijn Neeltje E M Van Haren Dennis Van T Ent Marie-Jose Van Tol Badri N Vardarajan Dick J Veltman Meike W Vernooij Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright H Ronald Zielke Alan B Zonderman Ian J Deary Charles DeCarli Helena Schmidt Nicholas G Martin Anton J M De Craen Margaret J Wright Lenore J Launer Gunter Schumann Myriam Fornage Barbara Franke Stéphanie Debette Sarah E Medland M Arfan Ikram Paul M Thompson

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.

Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/nn.4398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112PMC
December 2016

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Lancet Neurol 2016 Dec;15(13):1346-1354

Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30287-3DOI Listing
December 2016

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).

Neurol Genet 2016 Oct 18;2(5):e94. Epub 2016 Aug 18.

Department of Neurology (C.D., M.M., M.P.), Department of Medical Genetics (N.S.), Hôpital Erasme, Laboratory of Experimental Neurology (C.D., S.D., M.R., M.M.), Université Libre de Bruxelles; Department of Physical Medicine and Rehabilitation (F.C.W.), University of Liège, University Hospital; and Fonds National de la Recherche Scientifique (M.M.), Brussels, Belgium.

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http://dx.doi.org/10.1212/NXG.0000000000000094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991603PMC
October 2016

Pharmacological treatments for Friedreich ataxia.

Cochrane Database Syst Rev 2016 Aug 30(8):CD007791. Epub 2016 Aug 30.

General Practice, Irish College of General Practitioners, Dunlavin, County Wicklow, Ireland.

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http://dx.doi.org/10.1002/14651858.CD007791.pub4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457808PMC
August 2016

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Mov Disord Clin Pract 2017 Mar-Apr;4(2):254-257. Epub 2016 Jul 18.

Sobell Department of Motor Neuroscience and Movement Disorders Institute of Neurology University College London, National Hospital for Neurology and Neurosurgery London United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353318PMC
July 2016

Delayed-onset Friedreich's ataxia revisited.

Mov Disord 2016 Jan 21;31(1):62-9. Epub 2015 Sep 21.

Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; and Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/mds.26382DOI Listing
January 2016

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

JAMA Neurol 2015 Nov;72(11):1334-41

Department of Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France3Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, Universi.

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http://dx.doi.org/10.1001/jamaneurol.2015.1855DOI Listing
November 2015

Adult neural precursor cells form connexin-dependent networks that improve their survival.

Neuroreport 2015 Oct;26(15):928-36

aDepartment of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden bLaboratory of Experimental Neurology cLaboratory of Histology, Neuroanatomy and Neuropathology, Free University of Brussels (ULB), Brussels, Belgium.

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http://dx.doi.org/10.1097/WNR.0000000000000451DOI Listing
October 2015

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Hum Mol Genet 2015 Apr 30;24(8):2274-86. Epub 2014 Dec 30.

ULB Center for Diabetes Research and, Division of Endocrinology, Erasmus Hospital, 1070, Brussels, Belgium

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http://dx.doi.org/10.1093/hmg/ddu745DOI Listing
April 2015

Common genetic variants influence human subcortical brain structures.

Authors:
Derrek P Hibar Jason L Stein Miguel E Renteria Alejandro Arias-Vasquez Sylvane Desrivières Neda Jahanshad Roberto Toro Katharina Wittfeld Lucija Abramovic Micael Andersson Benjamin S Aribisala Nicola J Armstrong Manon Bernard Marc M Bohlken Marco P Boks Janita Bralten Andrew A Brown M Mallar Chakravarty Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk den Braber Sudheer Giddaluru Aaron L Goldman Oliver Grimm Tulio Guadalupe Johanna Hass Girma Woldehawariat Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Loes M Olde Loohuis Michelle Luciano Christine Macare Karen A Mather Manuel Mattheisen Yuri Milaneschi Kwangsik Nho Martina Papmeyer Adaikalavan Ramasamy Shannon L Risacher Roberto Roiz-Santiañez Emma J Rose Alireza Salami Philipp G Sämann Lianne Schmaal Andrew J Schork Jean Shin Lachlan T Strike Alexander Teumer Marjolein M J van Donkelaar Kristel R van Eijk Raymond K Walters Lars T Westlye Christopher D Whelan Anderson M Winkler Marcel P Zwiers Saud Alhusaini Lavinia Athanasiu Stefan Ehrlich Marina M H Hakobjan Cecilie B Hartberg Unn K Haukvik Angelien J G A M Heister David Hoehn Dalia Kasperaviciute David C M Liewald Lorna M Lopez Remco R R Makkinje Mar Matarin Marlies A M Naber D Reese McKay Margaret Needham Allison C Nugent Benno Pütz Natalie A Royle Li Shen Emma Sprooten Daniah Trabzuni Saskia S L van der Marel Kimm J E van Hulzen Esther Walton Christiane Wolf Laura Almasy David Ames Sampath Arepalli Amelia A Assareh Mark E Bastin Henry Brodaty Kazima B Bulayeva Melanie A Carless Sven Cichon Aiden Corvin Joanne E Curran Michael Czisch Greig I de Zubicaray Allissa Dillman Ravi Duggirala Thomas D Dyer Susanne Erk Iryna O Fedko Luigi Ferrucci Tatiana M Foroud Peter T Fox Masaki Fukunaga 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 Dirk J Heslenfeld Pieter J Hoekstra Florian Holsboer Georg Homuth Jouke-Jan Hottenga Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Ryota Kanai Maria Keil Jack W Kent Peter Kochunov John B Kwok Stephen M Lawrie Xinmin Liu Dan L Longo Katie L McMahon Eva Meisenzahl Ingrid Melle Sebastian Mohnke Grant W Montgomery Jeanette C Mostert Thomas W Mühleisen Michael A Nalls Thomas E Nichols Lars G Nilsson Markus M Nöthen Kazutaka Ohi Rene L Olvera Rocio Perez-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 Colin Smith Vidar M Steen Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Maria C Valdés Hernández Dennis van 't Ent Marcel van der Brug Nic J A van der Wee Marie-Jose van Tol Dick J Veltman Thomas H Wassink Eric Westman Ronald H Zielke Alan B Zonderman David G Ashbrook Reinmar Hager Lu Lu Francis J McMahon Derek W Morris Robert W Williams Han G Brunner Randy L Buckner Jan K Buitelaar Wiepke Cahn Vince D Calhoun Gianpiero L Cavalleri Benedicto Crespo-Facorro Anders M Dale Gareth E Davies Norman Delanty Chantal Depondt Srdjan Djurovic Wayne C Drevets Thomas Espeseth Randy L Gollub Beng-Choon Ho Wolfgang Hoffmann Norbert Hosten René S Kahn Stephanie Le Hellard Andreas Meyer-Lindenberg Bertram Müller-Myhsok Matthias Nauck Lars Nyberg Massimo Pandolfo Brenda W J H Penninx Joshua L Roffman Sanjay M Sisodiya Jordan W Smoller Hans van Bokhoven Neeltje E M van Haren Henry Völzke Henrik Walter Michael W Weiner Wei Wen Tonya White Ingrid Agartz Ole A Andreassen John Blangero Dorret I Boomsma Rachel M Brouwer Dara M Cannon Mark R Cookson Eco J C de Geus Ian J Deary Gary Donohoe Guillén Fernández Simon E Fisher Clyde Francks David C Glahn Hans J Grabe Oliver Gruber John Hardy Ryota Hashimoto Hilleke E Hulshoff Pol Erik G Jönsson Iwona Kloszewska Simon Lovestone Venkata S Mattay Patrizia Mecocci Colm McDonald Andrew M McIntosh Roel A Ophoff Tomas Paus Zdenka Pausova Mina Ryten Perminder S Sachdev Andrew J Saykin Andy Simmons Andrew 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 James T Becker Lisa Yanek Sven J van der Lee Maritza Ebling Bruce Fischl W T Longstreth Douglas Greve Helena Schmidt Paul Nyquist Louis N Vinke Cornelia M van Duijn Luting Xue Bernard Mazoyer Joshua C Bis Vilmundur Gudnason Sudha Seshadri M Arfan Ikram Nicholas G Martin Margaret J Wright Gunter Schumann Barbara Franke Paul M Thompson Sarah E Medland

Nature 2015 Apr 21;520(7546):224-9. Epub 2015 Jan 21.

QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.

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April 2015

Quantifiable evaluation of cerebellar signs in children.

Neurology 2015 Mar 25;84(12):1225-32. Epub 2015 Feb 25.

From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.

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March 2015

Building bridges between neuroscientific evidence and policy.

Lancet Neurol 2015 Mar 16;14(3):242-5. Epub 2015 Feb 16.

School of Medicine, Stanford University, Stanford CA, USA.

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March 2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Lancet Neurol 2015 Feb 5;14(2):174-82. Epub 2015 Jan 5.

Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address:

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February 2015

Consensus clinical management guidelines for Friedreich ataxia.

Orphanet J Rare Dis 2014 Nov 30;9:184. Epub 2014 Nov 30.

Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia.

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November 2014

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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September 2014

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

Authors:
Paul M Thompson Jason L Stein Sarah E Medland Derrek P Hibar Alejandro Arias Vasquez Miguel E Renteria Roberto Toro Neda Jahanshad Gunter Schumann Barbara Franke Margaret J Wright Nicholas G Martin Ingrid Agartz Martin Alda Saud Alhusaini Laura Almasy Jorge Almeida Kathryn Alpert Nancy C Andreasen Ole A Andreassen Liana G Apostolova Katja Appel Nicola J Armstrong Benjamin Aribisala Mark E Bastin Michael Bauer Carrie E Bearden Orjan Bergmann Elisabeth B Binder John Blangero Henry J Bockholt Erlend Bøen Catherine Bois Dorret I Boomsma Tom Booth Ian J Bowman Janita Bralten Rachel M Brouwer Han G Brunner David G Brohawn Randy L Buckner Jan Buitelaar Kazima Bulayeva Juan R Bustillo Vince D Calhoun Dara M Cannon Rita M Cantor Melanie A Carless Xavier Caseras Gianpiero L Cavalleri M Mallar Chakravarty Kiki D Chang Christopher R K Ching Andrea Christoforou Sven Cichon Vincent P Clark Patricia Conrod Giovanni Coppola Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Ian J Deary Eco J C de Geus Anouk den Braber Giuseppe Delvecchio Chantal Depondt Lieuwe de Haan Greig I de Zubicaray Danai Dima Rali Dimitrova Srdjan Djurovic Hongwei Dong Gary Donohoe Ravindranath Duggirala Thomas D Dyer Stefan Ehrlich Carl Johan Ekman Torbjørn Elvsåshagen Louise Emsell Susanne Erk Thomas Espeseth Jesen Fagerness Scott Fears Iryna Fedko Guillén Fernández Simon E Fisher Tatiana Foroud Peter T Fox Clyde Francks Sophia Frangou Eva Maria Frey Thomas Frodl Vincent Frouin Hugh Garavan Sudheer Giddaluru David C Glahn Beata Godlewska Rita Z Goldstein Randy L Gollub Hans J Grabe Oliver Grimm Oliver Gruber Tulio Guadalupe Raquel E Gur Ruben C Gur Harald H H Göring Saskia Hagenaars Tomas Hajek Geoffrey B Hall Jeremy Hall John Hardy Catharina A Hartman Johanna Hass Sean N Hatton Unn K Haukvik Katrin Hegenscheid Andreas Heinz Ian B Hickie Beng-Choon Ho David Hoehn Pieter J Hoekstra Marisa Hollinshead Avram J Holmes Georg Homuth Martine Hoogman L Elliot Hong Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Kristy S Hwang Clifford R Jack Mark Jenkinson Caroline Johnston Erik G Jönsson René S Kahn Dalia Kasperaviciute Sinead Kelly Sungeun Kim Peter Kochunov Laura Koenders Bernd Krämer John B J Kwok Jim Lagopoulos Gonzalo Laje Mikael Landen Bennett A Landman John Lauriello Stephen M Lawrie Phil H Lee Stephanie Le Hellard Herve Lemaître Cassandra D Leonardo Chiang-Shan Li Benny Liberg David C Liewald Xinmin Liu Lorna M Lopez Eva Loth Anbarasu Lourdusamy Michelle Luciano Fabio Macciardi Marise W J Machielsen Glenda M Macqueen Ulrik F Malt René Mandl Dara S Manoach Jean-Luc Martinot Mar Matarin Karen A Mather Manuel Mattheisen Morten Mattingsdal Andreas Meyer-Lindenberg Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Eva Meisenzahl Ingrid Melle Yuri Milaneschi Sebastian Mohnke Grant W Montgomery Derek W Morris Eric K Moses Bryon A Mueller Susana Muñoz Maniega Thomas W Mühleisen Bertram Müller-Myhsok Benson Mwangi Matthias Nauck Kwangsik Nho Thomas E Nichols Lars-Göran Nilsson Allison C Nugent Lars Nyberg Rene L Olvera Jaap Oosterlaan Roel A Ophoff Massimo Pandolfo Melina Papalampropoulou-Tsiridou Martina Papmeyer Tomas Paus Zdenka Pausova Godfrey D Pearlson Brenda W Penninx Charles P Peterson Andrea Pfennig Mary Phillips G Bruce Pike Jean-Baptiste Poline Steven G Potkin Benno Pütz Adaikalavan Ramasamy Jerod Rasmussen Marcella Rietschel Mark Rijpkema Shannon L Risacher Joshua L Roffman Roberto Roiz-Santiañez Nina Romanczuk-Seiferth Emma J Rose Natalie A Royle Dan Rujescu Mina Ryten Perminder S Sachdev Alireza Salami Theodore D Satterthwaite Jonathan Savitz Andrew J Saykin Cathy Scanlon Lianne Schmaal Hugo G Schnack Andrew J Schork S Charles Schulz Remmelt Schür Larry Seidman Li Shen Jody M Shoemaker Andrew Simmons Sanjay M Sisodiya Colin Smith Jordan W Smoller Jair C Soares Scott R Sponheim Emma Sprooten John M Starr Vidar M Steen Stephen Strakowski Lachlan Strike Jessika Sussmann Philipp G Sämann Alexander Teumer Arthur W Toga Diana Tordesillas-Gutierrez Daniah Trabzuni Sarah Trost Jessica Turner Martijn Van den Heuvel Nic J van der Wee Kristel van Eijk Theo G M van Erp Neeltje E M van Haren Dennis van 't Ent Marie-Jose van Tol Maria C Valdés Hernández Dick J Veltman Amelia Versace Henry Völzke Robert Walker Henrik Walter Lei Wang Joanna M Wardlaw Michael E Weale Michael W Weiner Wei Wen Lars T Westlye Heather C Whalley Christopher D Whelan Tonya White Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf David Zilles Marcel P Zwiers Anbupalam Thalamuthu Peter R Schofield Nelson B Freimer Natalia S Lawrence Wayne Drevets

Brain Imaging Behav 2014 Jun;8(2):153-82

Imaging Genetics Center, Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, 2001 N. Soto Street, Los Angeles, CA, 90033, USA,

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June 2014

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Neurology 2014 May 9;82(19):1749-50. Epub 2014 Apr 9.

From Hôpital Erasme (C.D., N.S., R.v.H., M.A., M.P.), Université Libre de Bruxelles (C.D., S.D., M.R., M.P.); and Algemeen Ziekenhuis Sint-Jan (M.D.), Brugge, Belgium.

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May 2014

Characteristics and outcomes of patients with multiple cervical artery dissection.

Stroke 2014 Jan 10;45(1):37-41. Epub 2013 Dec 10.

From the Department of Neurology, Dijon University Hospital, Dijon, France (Y.B., C.A.-E., M.G.); Department of Epidemiology and Public Health, Inserm U744, Pasteur Institute, Lille, France (S.D., J.D.); Department of Neurology, EA1046, Lille University Hospital, Lille, France (S.D., D.L.); Department of Clinical and Experimental Sciences, Neurology Clinic, Brescia University Hospital, Brescia, Italy (A.P.); Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (T.T., T.M., A.M.); Department of Neurology, University Hospital of Basel, Basel, Switzerland (S.E., P.L.); Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany (C.G.-G., M.K.); Department of Neurology, Sainte-Anne University Hospital, Paris, France (E.T.); Department of Neurology, San Raffaele University Hospital, Milan, Italy (M.S.); Stroke Unit, Perugia University Hospital, Italy (V.C.); and Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium (M.P., S.A.).

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January 2014

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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October 2013

A new locus for familial temporal lobe epilepsy on chromosome 3q.

Epilepsy Res 2013 Oct 14;106(3):338-44. Epub 2013 Aug 14.

Department of Neurology, ULB-Hôpital Erasme, Brussels, Belgium.

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October 2013

Cerebellar and afferent ataxias.

Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1312-43

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October 2013

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

Hum Mol Genet 2013 Sep 29;22(17):3425-37. Epub 2013 Apr 29.

Basic, Translational and Molecular Neurogenetics Research Unit in Neurosciences, Health Sciences Research Institute Germans Trias y Pujol (IGTP), Badalona, Barcelona, Spain.

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September 2013

Deferiprone for the treatment of Friedreich's ataxia.

J Neurochem 2013 Aug;126 Suppl 1:142-6

Department of Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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August 2013

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia.

J Neurochem 2013 Aug;126 Suppl 1:147-54

Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.

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August 2013

150 years of Friedreich ataxia: from its discovery to therapy.

J Neurochem 2013 Aug;126 Suppl 1:1-3

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August 2013

Pediatric epilepsy genetics.

Authors:
Massimo Pandolfo

Curr Opin Neurol 2013 Apr;26(2):137-45

Department of Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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April 2013

Common data elements for clinical research in Friedreich's ataxia.

Mov Disord 2013 Feb 12;28(2):190-5. Epub 2012 Dec 12.

Department of Neurology, University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581713PMC
February 2013

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Dis Model Mech 2012 Nov 26;5(6):860-9. Epub 2012 Jun 26.

Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484868PMC
November 2012

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.

Lancet Neurol 2012 Nov 5;11(11):951-62. Epub 2012 Oct 5.

Stroke and Dementia Research Centre, St George's University of London, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490334PMC
November 2012

Friedreich ataxia: new pathways.

Authors:
Massimo Pandolfo

J Child Neurol 2012 Sep 29;27(9):1204-11. Epub 2012 Jun 29.

Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674791PMC
September 2012

Periventricular heterotopia: identifying homogeneity among heterogeneity.

Neurology 2012 Sep 22;79(12):1192-3. Epub 2012 Aug 22.

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September 2012

Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia.

Eur Heart J Cardiovasc Imaging 2012 Apr 28;13(4):346-52. Epub 2011 Nov 28.

Department of Cardiology, Erasme Hospital, Université Libre de Bruxelles, 808 Route de Lennik, Brussels, Belgium.

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April 2012

Identification of common variants associated with human hippocampal and intracranial volumes.

Authors:
Jason L Stein Sarah E Medland Alejandro Arias Vasquez Derrek P Hibar Rudy E Senstad Anderson M Winkler Roberto Toro Katja Appel Richard Bartecek Ørjan Bergmann Manon Bernard Andrew A Brown Dara M Cannon M Mallar Chakravarty Andrea Christoforou Martin Domin Oliver Grimm Marisa Hollinshead Avram J Holmes Georg Homuth Jouke-Jan Hottenga Camilla Langan Lorna M Lopez Narelle K Hansell Kristy S Hwang Sungeun Kim Gonzalo Laje Phil H Lee Xinmin Liu Eva Loth Anbarasu Lourdusamy Morten Mattingsdal Sebastian Mohnke Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Carol O'Brien Martina Papmeyer Benno Pütz Adaikalavan Ramasamy Jerod Rasmussen Mark Rijpkema Shannon L Risacher J Cooper Roddey Emma J Rose Mina Ryten Li Shen Emma Sprooten Eric Strengman Alexander Teumer Daniah Trabzuni Jessica Turner Kristel van Eijk Theo G M van Erp Marie-Jose van Tol Katharina Wittfeld Christiane Wolf Saskia Woudstra Andre Aleman Saud Alhusaini Laura Almasy Elisabeth B Binder David G Brohawn Rita M Cantor Melanie A Carless Aiden Corvin Michael Czisch Joanne E Curran Gail Davies Marcio A A de Almeida Norman Delanty Chantal Depondt Ravi Duggirala Thomas D Dyer Susanne Erk Jesen Fagerness Peter T Fox Nelson B Freimer Michael Gill Harald H H Göring Donald J Hagler David Hoehn Florian Holsboer Martine Hoogman Norbert Hosten Neda Jahanshad Matthew P Johnson Dalia Kasperaviciute Jack W Kent Peter Kochunov Jack L Lancaster Stephen M Lawrie David C Liewald René Mandl Mar Matarin Manuel Mattheisen Eva Meisenzahl Ingrid Melle Eric K Moses Thomas W Mühleisen Matthias Nauck Markus M Nöthen Rene L Olvera Massimo Pandolfo G Bruce Pike Ralf Puls Ivar Reinvang Miguel E Rentería Marcella Rietschel Joshua L Roffman Natalie A Royle Dan Rujescu Jonathan Savitz Hugo G Schnack Knut Schnell Nina Seiferth Colin Smith Vidar M Steen Maria C Valdés Hernández Martijn Van den Heuvel Nic J van der Wee Neeltje E M Van Haren Joris A Veltman Henry Völzke Robert Walker Lars T Westlye Christopher D Whelan Ingrid Agartz Dorret I Boomsma Gianpiero L Cavalleri Anders M Dale Srdjan Djurovic Wayne C Drevets Peter Hagoort Jeremy Hall Andreas Heinz Clifford R Jack Tatiana M Foroud Stephanie Le Hellard Fabio Macciardi Grant W Montgomery Jean Baptiste Poline David J Porteous Sanjay M Sisodiya John M Starr Jessika Sussmann Arthur W Toga Dick J Veltman Henrik Walter Michael W Weiner Joshua C Bis M Arfan Ikram Albert V Smith Vilmundur Gudnason Christophe Tzourio Meike W Vernooij Lenore J Launer Charles DeCarli Sudha Seshadri Ole A Andreassen Liana G Apostolova Mark E Bastin John Blangero Han G Brunner Randy L Buckner Sven Cichon Giovanni Coppola Greig I de Zubicaray Ian J Deary Gary Donohoe Eco J C de Geus Thomas Espeseth Guillén Fernández David C Glahn Hans J Grabe John Hardy Hilleke E Hulshoff Pol Mark Jenkinson René S Kahn Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Andreas Meyer-Lindenberg Derek W Morris Bertram Müller-Myhsok Thomas E Nichols Roel A Ophoff Tomas Paus Zdenka Pausova Brenda W Penninx Steven G Potkin Philipp G Sämann Andrew J Saykin Gunter Schumann Jordan W Smoller Joanna M Wardlaw Michael E Weale Nicholas G Martin Barbara Franke Margaret J Wright Paul M Thompson

Nat Genet 2012 Apr 15;44(5):552-61. Epub 2012 Apr 15.

Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

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April 2012

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Cochrane Database Syst Rev 2012 Apr 18(4):CD007791. Epub 2012 Apr 18.

General Practice, Irish College of General Practitioners, Dunlavin, County Wicklow, Ireland.

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April 2012

Friedreich ataxia.

Authors:
Massimo Pandolfo

Handb Clin Neurol 2012 ;103:275-94

Brussels Free University and Erasme Hospital, Brussels, Belgium.

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December 2011

A gene expression phenotype in lymphocytes from Friedreich ataxia patients.

Ann Neurol 2011 Nov;70(5):790-804

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1002/ana.22526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646419PMC
November 2011

Genetics of epilepsy.

Authors:
Massimo Pandolfo

Semin Neurol 2011 Nov 21;31(5):506-18. Epub 2012 Jan 21.

Department of Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1055/s-0031-1299789DOI Listing
November 2011

Cardiomyopathy in Friedreich's ataxia.

Acta Neurol Belg 2011 Sep;111(3):183-7

The John Radcliffe Hospital, Oxford, UK.

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September 2011

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

J Mol Neurosci 2011 Mar 18;43(3):346-9. Epub 2010 Sep 18.

Genetics Unit, Mauro Baschirotto Institute for Rare Diseases-B.I.R.D. Foundation, Costozza di Longare, Vicenza, Italy.

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http://dx.doi.org/10.1007/s12031-010-9448-4DOI Listing
March 2011

Development of histone deacetylase inhibitors as therapeutics for neurological disease.

Future Neurol 2009 Nov;4(6):775-784

Department of Molecular Biology, The Scripps Research Institute, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA, Tel.: +1 858 784 8913.

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https://www.futuremedicine.com/doi/10.2217/fnl.09.55
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http://dx.doi.org/10.2217/fnl.09.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824892PMC
November 2009

Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke.

Eur J Hum Genet 2009 Oct 25;17(10):1287-93. Epub 2009 Mar 25.

Department of Neurology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2009.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986638PMC
October 2009

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Cochrane Database Syst Rev 2009 Oct 7(4):CD007791. Epub 2009 Oct 7.

General Practice, Irish College of General Practitioners, Dunlavin, County Wicklow, Ireland.

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http://dx.doi.org/10.1002/14651858.CD007791.pub2DOI Listing
October 2009

Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model.

J Neurosci 2009 Oct;29(42):13126-35

Laboratory of Experimental Neurology and 2Laboratory of Neurophysiology, Brussels Free University (ULB), Brussels, Belgium.

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http://dx.doi.org/10.1523/JNEUROSCI.0647-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6665209PMC
October 2009

Diagnosis and treatment of Friedreich ataxia: a European perspective.

Nat Rev Neurol 2009 Apr;5(4):222-34

Department of Neurology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, Aachen, Germany.

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http://www.nature.com/articles/nrneurol.2009.26
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April 2009

Blood-brain barrier promotes differentiation of human fetal neural precursor cells.

Stem Cells 2009 Apr;27(4):838-46

Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/stem.25DOI Listing
April 2009

Introduction. Idebenone in the treatment of Friedreich ataxia.

Authors:
Massimo Pandolfo

J Neurol 2009 Mar;256 Suppl 1:1-2

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http://dx.doi.org/10.1007/s00415-009-1001-4DOI Listing
March 2009

Friedreich ataxia: the clinical picture.

Authors:
Massimo Pandolfo

J Neurol 2009 Mar;256 Suppl 1:3-8

Service de Neurologie, Université Libre de Bruxelles-Hôpital Erasme, Bruxelles, Belgium.

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http://link.springer.com/10.1007/s00415-009-1002-3
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March 2009

The pathogenesis of Friedreich ataxia and the structure and function of frataxin.

J Neurol 2009 Mar;256 Suppl 1:9-17

Service de Neurologie, Hôpital Erasme - Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1007/s00415-009-1003-2DOI Listing
March 2009

The neurological presentation of ceruloplasmin gene mutations.

Eur Neurol 2008 30;60(4):200-5. Epub 2008 Jul 30.

Department of Clinical Genetics, NIHR, Birmingham Women's Hospital, Birmingham, UK.

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https://www.karger.com/Article/FullText/148691
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http://dx.doi.org/10.1159/000148691DOI Listing
December 2008

Friedreich ataxia.

Authors:
Massimo Pandolfo

Arch Neurol 2008 Oct;65(10):1296-303

Service de Neurologie, Erasme Hospital, Brussels Free University, Route de Lennik 808, B-1070, Brussels, Belgium.

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http://dx.doi.org/10.1001/archneur.65.10.1296DOI Listing
October 2008

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

PLoS One 2008 Apr 9;3(4):e1958. Epub 2008 Apr 9.

Laboratoire de Neurologie Expérimentale, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373517PMC
April 2008

Drug Insight: antioxidant therapy in inherited ataxias.

Authors:
Massimo Pandolfo

Nat Clin Pract Neurol 2008 Feb;4(2):86-96

Service de Neurologie, Université Libre de Bruxelles-Hôpital Erasme, Route de Lennik 808, B-1070 Bruxelles, Belgium.

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http://dx.doi.org/10.1038/ncpneuro0704DOI Listing
February 2008

Gene set enrichment analyses revealed several affected pathways in Niemann-pick disease type C fibroblasts.

DNA Cell Biol 2007 Sep;26(9):665-71

Department of Neurology and Laboratory of Experimental Neurology, ULB Erasme Hospital, Brussels, Belgium, and Turku Centre for Biotechnology, University of Turku, Finland.

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http://dx.doi.org/10.1089/dna.2006.0570DOI Listing
September 2007