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Author Details

Alexandra Durr
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
1975
589
100
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36152050The inherited cerebellar ataxias: an update.J Neurol2023
37957369Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.Hum Genet2023
37854177End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.Neurol Clin Pract2023
37587097Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration.Brain2023
37479376Autosomal dominant cerebellar ataxias: new genes and progress towards treatments.Lancet Neurol2023
38055260Tominersen in Adults with Manifest Huntington's Disease.N Engl J Med2023
37641437Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.Ann Clin Transl Neurol2023
37492467Erratum: Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing.HGG Adv2023
37425910Genome-wide association study identifies a new susceptibility locus in <i>PLA2G4C</i> for Multiple System Atrophy.medRxiv2023
37457636Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.Tremor Other Hyperkinet Mov (N Y)2023
37288993Huntington's Disease with Small CAG Repeat Expansions.Mov Disord2023
37177896Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.Clin Genet2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
37028193Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.Ann Phys Rehabil Med2023
36855904Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.Neuropathol Appl Neurobiol2023
36478048Two RFC1 splicing variants in CANVAS.Brain2023
36917716Progressive alterations in white matter microstructure across the timecourse of Huntington's disease.Brain Behav2023
36422518Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Genet Med2023
36797067Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.Neurology2023
36599645Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.J Med Genet2023
36310392Improving adult pulsatile minimal invasive extracorporeal circulation in a mock circulation.Artif Organs2023
36273394Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias.Mov Disord2023
36270767Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.J Med Genet2023
34403957Genetics in hereditary spastic paraplegias: Essential but not enough.Curr Opin Neurobiol2022
35411967Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.Ann Neurol2022
35475582Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.Mov Disord2022
36524101Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).Neurol Genet2022
36357508Prediction of the disease course in Friedreich ataxia.Sci Rep2022
36056923The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.Genet Med2022
36262216Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing.HGG Adv2022
36344508Forecasting individual progression trajectories in Huntington disease enables more powered clinical trials.Sci Rep2022
34920960Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.Arch Cardiovasc Dis2022
34983064Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.Brain2022
35286370Antisense therapies in neurological diseases.Brain2022
35150594De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Mov Disord2022
35063116Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.Lancet Neurol2022
35331153An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.BMC Neurol2022
35264424Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.Neurology2022
34927205Motor neuron pathology in CANVAS due to RFC1 expansions.Brain2022
34788392NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.Brain2022
33022077Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations.Mov Disord2021
33627829Response to Park et al.Genet Med2021
33486633Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics2021
33592237Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia.Int J Cardiol2021
33591252[Huntington disease: Neurodegeneration rooted in brain development?]Med Sci (Paris)2021
33817696Recent advances in understanding hereditary spastic paraplegias and emerging therapies.Fac Rev2021
33816663Disease Onset in Huntington's Disease: When Is the Conversion?Mov Disord Clin Pract2021
33636389Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia.Neurobiol Dis2021
33889951Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.Brain2021
34546337Implication of folate deficiency in CYP2U1 loss of function.J Exp Med2021
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Collaborators

Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 327
Giovanni Stevanin
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 170
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 41
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 32
Bertrand Fontaine
Co-authored papers 31
Nicholas W Wood
UCL Queen Square Institute of Neurology
Co-authored papers 29
Ali Benomar
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 20
Naima Bouslam
Specialties Hospital
Co-authored papers 17
Hans J Johnson
University of Iowa
Co-authored papers 15
Andrew B Singleton
National Institute on Aging
Co-authored papers 14
Stephan Z??chner
Hussman Institute for Human Genomics, University of Miami
Co-authored papers 12
Jean Weissenbach
Institut Francois Jacob, CNRS, Universite Paris-Saclay
Co-authored papers 9
Sandrine Humbert
Grenoble Institut Neurosciences, INSERM, Universite Grenoble Alpes
Co-authored papers 9
Ben A Oostra
Co-authored papers 9
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 8
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 7
Romain Valabregue
Center for NeuroImaging Research
Co-authored papers 7
Michael A Gonzalez
The Genesis Project Foundation
Co-authored papers 7
Sylvain Hanein
Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University
Co-authored papers 7
Peter Holmans
Co-authored papers 6
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 6
Ahmed Bouhouche
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 6
Tetsuo Ashizawa
Houston Methodist Research Institute
Co-authored papers 6
Mike A Nalls
Center for Alzheimer's and Related Dementias, National Institutes of Health
Co-authored papers 6
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
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Peter Heutink
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Laure Raymond
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Release 1.2