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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 articles
hal-03923765v1
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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.
Journal articles
hal-03852287v1
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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 articles
hal-02949335v1
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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.
Journal articles
hal-03190659v1
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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.
Journal articles
hal-03997720v1
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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.
Journal articles
hal-03230958v1
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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
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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
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Recent advances in understanding hereditary spastic paraplegias and emerging therapies
Pauline Lallemant-Dudek
,
Frédéric Darios
,
Alexandra Durr
Journal articles
hal-03190639v1
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Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy
Vincent Huin
,
Mathieu Barbier
,
Alexandra Durr
,
Isabelle Le Ber
Journal articles
hal-03113276v1
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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.
Journal articles
hal-03154585v1
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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.
Journal articles
pasteur-03813186v1
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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.
Journal articles
hal-03257218v1
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