Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view [version 1; referees: 3 approved]

by Giulia Coarelli, Alexis Brice, Alexandra Durr
Published 2018-11-01

Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice.

by Fanny Mochel, Brandon Durant, Alexandra Durr, Raphael Schiffmann
Published 2011-01-01

Altered Intracortical T1-Weighted/T2-Weighted Ratio Signal in Huntington’s Disease

by Christopher D. Rowley, Sarah J. Tabrizi, Rachael I. Scahill, Blair R. Leavitt, Raymund A. C. Roos, Alexandra Durr, Alexandra Durr, Nicholas A. Bock
Published 2018-11-01

Propensity for somatic expansion increases over the course of life in Huntington disease

by Radhia Kacher, François-Xavier Lejeune, Sandrine Noël, Cécile Cazeneuve, Alexis Brice, Sandrine Humbert, Alexandra Durr
Published 2021-05-01

Oral mobility reflects rate of progression in advanced Friedreich’s ataxia

by Stéphanie Borel, Peggy Gatignol, Mustapha Smail, Marie‐Lorraine Monin, Claire Ewenczyk, Didier Bouccara, Alexandra Durr
Published 2019-09-01

Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia

by Lise Legrand, Carole Maupain, Marie-Lorraine Monin, Claire Ewenczyk, Richard Isnard, Rana Alkouri, Alexandra Durr, Francoise Pousset
Published 2020-05-01

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

by Mathias Schwartz, Jean-Philippe Brandel, Jean-Philippe Brandel, Marie Lise Babonneau, Marie Lise Babonneau, Christilla Boucher, Elodie Schaerer, Stephane Haik, Stephane Haik, Jean Louis Laplanche, Jean Louis Laplanche, Marcela Gargiulo, Marcela Gargiulo, Marcela Gargiulo, Alexandra Durr, Alexandra Durr
Published 2019-09-01

Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia

by Giulia Coarelli, Frederic Darios, Emilien Petit, Karim Dorgham, Isaac Adanyeguh, Elodie Petit, Alexis Brice, Fanny Mochel, Alexandra Durr
Published 2021-06-01

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

by Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel
Published 2019-07-01

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes

by Isaac M. Adanyeguh, Vincent Perlbarg, Pierre-Gilles Henry, Daisy Rinaldi, Elodie Petit, Romain Valabregue, Alexis Brice, Alexandra Durr, Fanny Mochel
Published 2018-01-01

Multiparametric characterization of white matter alterations in early stage Huntington disease

by Isaac M. Adanyeguh, Francesca Branzoli, Cécile Delorme, Aurélie Méneret, Marie-Lorraine Monin, Marie-Pierre Luton, Alexandra Durr, Emanoel Sabidussi, Fanny Mochel
Published 2021-06-01

Neuroendocrine disturbances in Huntington's disease.

by Nadine Saleh, Stéphane Moutereau, Alexandra Durr, Pierre Krystkowiak, Jean-Philippe Azulay, Christine Tranchant, Emmanuel Broussolle, Françoise Morin, Anne-Catherine Bachoud-Lévi, Patrick Maison
Published 2009-01-01

A Computational Cognitive Biomarker for Early-Stage Huntington's Disease.

by Thomas V Wiecki, Chrystalina A Antoniades, Alexander Stevenson, Christopher Kennard, Beth Borowsky, Gail Owen, Blair Leavitt, Raymund Roos, Alexandra Durr, Sarah J Tabrizi, Michael J Frank
Published 2016-01-01

Mapping cortico-striatal connectivity onto the cortical surface: a new tractography-based approach to study Huntington disease.

by Linda Marrakchi-Kacem, Christine Delmaire, Pamela Guevara, Fabrice Poupon, Sophie Lecomte, Alan Tucholka, Pauline Roca, Jérôme Yelnik, Alexandra Durr, Jean-François Mangin, Stéphane Lehéricy, Cyril Poupon
Published 2013-01-01

Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington’s Disease

by Eileanoir B. Johnson, Sarah Gregory, Hans J. Johnson, Alexandra Durr, Blair R. Leavitt, Raymund A. Roos, Raymund A. Roos, Geraint Rees, Sarah J. Tabrizi, Rachael I. Scahill
Published 2017-10-01

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

by Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Laurence Perin, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold, Daniel Rabier, Alexandra Durr
Published 2007-01-01

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia

by Kunie Ando, Lorenzo Ferlini, Valérie Suain, Zehra Yilmaz, Salwa Mansour, Isabelle Le Ber, Cécile Bouchard, Karelle Leroy, Alexandra Durr, Fabienne Clot, Marie Sarazin, Jean-Christophe Bier, Jean-Pierre Brion
Published 2020-06-01

Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.

by Astrid C Haugen, Nicholas A Di Prospero, Joel S Parker, Rick D Fannin, Jeff Chou, Joel N Meyer, Christopher Halweg, Jennifer B Collins, Alexandra Durr, Kenneth Fischbeck, Bennett Van Houten
Published 2010-01-01

Validating Automated Segmentation Tools in the Assessment of Caudate Atrophy in Huntington’s Disease

by Nina M. Mansoor, Tishok Vanniyasingam, Ian Malone, Nicola Z. Hobbs, Elin Rees, Alexandra Durr, Raymund A. C. Roos, Bernhard Landwehrmeyer, Sarah J. Tabrizi, Eileanoir B. Johnson, Rachael I. Scahill
Published 2021-04-01

Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease

by Lora Minkova, Sarah Gregory, Rachael I. Scahill, Ahmed Abdulkadir, Christoph P. Kaller, Jessica Peter, Jeffrey D. Long, Julie C. Stout, Ralf Reilmann, Raymund A. Roos, Alexandra Durr, Blair R. Leavitt, Sarah J. Tabrizi, Stefan Klöppel
Published 2018-01-01