Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study

by Verena Baake, Emma M. Coppen, Erik van Duijn, Eve M. Dumas, Simon J.A. van den Bogaard, Rachael I. Scahill, Hans Johnson, Blair Leavitt, Alexandra Durr, Sarah J. Tabrizi, David Craufurd, Raymund A.C. Roos
Published 2018-01-01

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

by Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Published 2003-08-01

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

by Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton
Published 2019-10-01

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

by Ammar Al-Chalabi, Alexandra Dürr, Nicholas W Wood, Michael H Parkinson, Agnes Camuzat, Jean-Sébastien Hulot, Karen E Morrison, Alan Renton, Sigurd D Sussmuth, Bernhard G Landwehrmeyer, Albert Ludolph, Yves Agid, Alexis Brice, P Nigel Leigh, Gilbert Bensimon, NNIPPS Genetic Study Group
Published 2009-09-01

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

by Jacqueline M. Ward, Colleen A. Stoyas, Pawel M. Switonski, Farid Ichou, Weiwei Fan, Brett Collins, Christopher E. Wall, Isaac Adanyeguh, Chenchen Niu, Bryce L. Sopher, Chizuru Kinoshita, Richard S. Morrison, Alexandra Durr, Alysson R. Muotri, Ronald M. Evans, Fanny Mochel, Albert R. La Spada
Published 2019-01-01

Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort.

by Gaëlle Désaméricq, Guillaume Dolbeau, Christophe Verny, Perrine Charles, Alexandra Durr, Katia Youssov, Clémence Simonin, Jean-Philippe Azulay, Christine Tranchant, Cyril Goizet, Philippe Damier, Emmanuel Broussolle, Jean-François Demonet, Graca Morgado, Laurent Cleret de Langavant, Isabelle Macquin-Mavier, Anne-Catherine Bachoud-Lévi, Patrick Maison
Published 2014-01-01

Onset features and time to diagnosis in Friedreich’s Ataxia

by Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)
Published 2020-08-01

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

by Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Published 2018-06-01

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.

by Mikołaj Słabicki, Mirko Theis, Dragomir B Krastev, Sergey Samsonov, Emeline Mundwiller, Magno Junqueira, Maciej Paszkowski-Rogacz, Joan Teyra, Anne-Kristin Heninger, Ina Poser, Fabienne Prieur, Jérémy Truchetto, Christian Confavreux, Cécilia Marelli, Alexandra Durr, Jean Philippe Camdessanche, Alexis Brice, Andrej Shevchenko, M Teresa Pisabarro, Giovanni Stevanin, Frank Buchholz
Published 2010-06-01

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

by Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry
Published 2016-06-01

Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study

by Stefan Klöppel, Sarah Gregory, Elisa Scheller, Lora Minkova, Adeel Razi, Alexandra Durr, Raymund A.C. Roos, Blair R. Leavitt, Marina Papoutsi, G. Bernhard Landwehrmeyer, Ralf Reilmann, Beth Borowsky, Hans Johnson, James A. Mills, Gail Owen, Julie Stout, Rachael I. Scahill, Jeffrey D. Long, Geraint Rees, Sarah J. Tabrizi
Published 2015-10-01

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

by Claire-Marie Dhaenens, Sylvie Burnouf, Clémence Simonin, Edwige Van Brussel, Alain Duhamel, Luc Defebvre, Cécile Duru, Isabelle Vuillaume, Cécile Cazeneuve, Perrine Charles, Patrick Maison, Sabrina Debruxelles, Christophe Verny, Hélène Gervais, Jean-Philippe Azulay, Christine Tranchant, Anne-Catherine Bachoud-Levi, Alexandra Dürr, Luc Buée, Pierre Krystkowiak, Bernard Sablonnière, David Blum
Published 2009-09-01

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.

by Ruth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, Emmanuel Dupoux, Alexandra Durr, Alexis Brice, Perrine Charles, Laurent Cleret de Langavant, Katia Youssov, Christophe Verny, Vincent Damotte, Jean-Philippe Azulay, Cyril Goizet, Clémence Simonin, Christine Tranchant, Patrick Maison, Amandine Rialland, David Schmitz, Charlotte Jacquemot, Bertrand Fontaine, Anne-Catherine Bachoud-Lévi, French Speaking Huntington Group
Published 2016-01-01

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)

by Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group
Published 2019-10-01

Association between caffeine intake and age at onset in Huntington's disease

by Clémence Simonin, Cécile Duru, Julia Salleron, Pascale Hincker, Perrine Charles, Arnaud Delval, Katia Youssov, Sylvie Burnouf, Jean-Philippe Azulay, Christophe Verny, Clarisse Scherer, Christine Tranchant, Cyril Goizet, Sabrina Debruxelles, Luc Defebvre, Bernard Sablonnière, Monique Romon-Rousseaux, Luc Buée, Alain Destée, Olivier Godefroy, Alexandra Dürr, Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Levi, Florence Richard, David Blum, Pierre Krystkowiak
Published 2013-10-01

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

by Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart van deWarrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen deVries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, SCA3 neurofilament study group, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik
Published 2020-07-01