Search - Inria - Institut national de recherche en sciences et technologies du numérique Access content directly

Filter your results

13 Results
Author: personID (integer) : 1078003
Image document

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Jean-Loup Méreaux , Claire-Sophie Davoine , Marie Coutelier , Léna Guillot-Noël , Anna Castrioto et al.
Journal of Medical Genetics, In press, ⟨10.1136/jmg-2022-108924⟩
Journal articles hal-03923765v1
Image document

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

Giulia Coarelli , Anna Heinzmann , Claire Ewenczyk , Clara Fischer , Marie Chupin et al.
The Lancet Neurology, 2022, 21, pp.225 - 233. ⟨10.1016/s1474-4422(21)00457-9⟩
Journal articles hal-03852287v1
Image document

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

Lise Legrand , Carole Maupain , Marie-Lorraine Monin , Claire Ewenczyk , Richard Isnard et al.
Journal of Clinical Medicine, 2020, 9 (6), pp.1630. ⟨10.3390/jcm9061630⟩
Journal articles hal-02949335v1
Image document

Disease Onset in Huntington's Disease: When Is the Conversion?

Raymund A.C. Roos , Mayke Oosterloo , Bianca T A Greef , Emilia Bijlsma , Alexandra Durr et al.
Movement Disorders, 2021, 8 (3), pp.352 - 360. ⟨10.1002/mdc3.13148⟩
Journal articles hal-03190659v1
Image document

Intermediate repeat expansions of TBP and STUB1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Mathieu Barbier , Claire-Sophie Davoine , Emilien Petit , Maximilien Porche , Léna Guillot-Noel et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, ⟨10.1016/j.gim.2022.10.009.⟩
Journal articles hal-03997720v1
Image document

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

Radhia Kacher , François-Xavier Lejeune , Sandrine Noël , Cécile Cazeneuve , Alexis Brice et al.
eLife, 2021, 10, pp.e64674. ⟨10.7554/eLife.64674⟩
Journal articles hal-03230958v1
Image document

Temporal dynamics of the Scale for the Assessment and Rating of Ataxia in autosomal cerebellar ataxias patients

Paul Moulaire , Pierre-Emmanuel Poulet , Emilien Petit , Thomas Klockgether , Tetsuo Ashisawa et al.
International Congress for Ataxia Research 2022, Nov 2022, Dallas, United States
Poster communications hal-03869013v1
Image document

Prediction of biomarkers' trajectory in Huntington's disease: application to precise clinical trial design

Igor Koval , Thomas Dighiero , Rachael I Scahill , Alexandra Durr , Stanley Durrleman​ et al.
CompAge 2020 - Computational approaches for ageing and age-related diseases, Sep 2020, Paris, France
Conference papers hal-03137994v1
Image document

Recent advances in understanding hereditary spastic paraplegias and emerging therapies

Pauline Lallemant-Dudek , Frédéric Darios , Alexandra Durr
Faculty Reviews, 2021, 10, ⟨10.12703/r/10-27⟩
Journal articles hal-03190639v1
Image document

Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy

Vincent Huin , Mathieu Barbier , Alexandra Durr , Isabelle Le Ber
Brain - A Journal of Neurology , 2021, ⟨10.1093/brain/awaa456⟩
Journal articles hal-03113276v1
Image document

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

Giulia Coarelli , Frédéric Darios , Emilien Petit , Karim Dorgham , Isaac M Adanyeguh et al.
Neurobiology of Disease, 2021, 153, pp.105311. ⟨10.1016/j.nbd.2021.105311⟩
Journal articles hal-03154585v1

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Livia Parodi , Mathieu Barbier , Maxime Jacoupy , Claire Pujol , François-Xavier Lejeune et al.
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Journal articles pasteur-03813186v1
Image document

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease

Maria del Mar Amador , Marcela Gargiulo , Christilla Boucher , Ariane Herson , Stéphanie Staraci et al.
Neurology Genetics, 2020, 7 (1), pp.e538. ⟨10.1212/nxg.0000000000000538⟩
Journal articles hal-03257218v1