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

Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.

by Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
Published 2012-01-01

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

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)

by Junko Takahashi-Fujigasaki, Tilo Breidert, Hiroto Fujigasaki, Charles Duyckaerts, Jacques H. Camonis, Alexis Brice, Anne-Sophie Lebre
Published 2011-01-01

Heterogeneous Intracellular Localization and Expression of Ataxin-3

by Yvon Trottier, Géraldine Cancel, Isabelle An-Gourfinkel, Yves Lutz, Chantal Weber, Alexis Brice, Etienne Hirsch, Jean-Louis Mandel
Published 1998-11-01

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

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

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models

by Martina Marinello, Andreas Werner, Mariagiovanna Giannone, Khadija Tahiri, Sandro Alves, Christelle Tesson, Wilfred den Dunnen, Jacob-S. Seeler, Alexis Brice, Annie Sittler
Published 2019-01-01

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

by Adam Book, Ilaria Guella, Tara Candido, Alexis Brice, Nobutaka Hattori, Beomseok Jeon, Matthew J. Farrer, SNCA Multiplication Investigators of the GEoPD Consortium
Published 2018-12-01

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

by Suzanne Lesage, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice
Published 2021-03-01

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

by Guilherme Riccioppo Rodrigues, Ruth H. Walker, Benedikt Bader, Adrian Danek, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Iscia Lopes-Cendes, Wilson Marques Jr., Vitor Tumas
Published 2011-06-01

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

by Elodie Martin, Constantin Yanicostas, Agnès Rastetter, Seyedeh Maryam Alavi Naini, Alissia Maouedj, Edor Kabashi, Sophie Rivaud-Péchoux, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
Published 2012-12-01

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

by Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron
Published 2014-01-01

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

by Anne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, Claude-Alain Maurage, Isabelle Le Ber, Alexis Brice, Jean-Charles Lambert, Thierry Frébourg, Didier Hannequin, Florence Pasquier, Dominique Campion
Published 2008-07-01

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

by Wen-Jie Gu, Olga Corti, Francisco Araujo, Cornelia Hampe, Sandrine Jacquier, Christoph B Lücking, Nacer Abbas, Charles Duyckaerts, Thomas Rooney, Laurent Pradier, Merle Ruberg, Alexis Brice
Published 2003-12-01

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel

by Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage
Published 2017-10-01

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease

by Sabine Prud'hon, Sabine Prud'hon, Samir Bekadar, Samir Bekadar, Agnès Rastetter, Justine Guégan, Florence Cormier-Dequaire, Florence Cormier-Dequaire, Lucette Lacomblez, Lucette Lacomblez, Graziella Mangone, Graziella Mangone, Hana You, Hana You, Mailys Daniau, Yannick Marie, Hélène Bertrand, Suzanne Lesage, Sophie Tezenas Du Montcel, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Alexis Brice, Alexis Brice, Fabrice Danjou, Jean-Christophe Corvol, Jean-Christophe Corvol
Published 2020-07-01

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

by Liena E. O. Elsayed, Liena E. O. Elsayed, Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin
Published 2020-10-01

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

by Simon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H Kaestner, Lois E Greene, Orly Elpeleg
Published 2012-01-01

Tissue- and cell-specific mitochondrial defect in Parkin-deficient mice.

by Maria Damiano, Clément A Gautier, Anne-Laure Bulteau, Rosa Ferrando-Miguel, Caroline Gouarne, Marc Giraudon Paoli, Rebecca Pruss, Françoise Auchère, Caroline L'Hermitte-Stead, Frédéric Bouillaud, Alexis Brice, Olga Corti, Anne Lombès
Published 2014-01-01