Alexandra Durr neurogénéticienne française
Dürr, Alexandra.
Dürr, Alexandra, 19..-....
Durr, Alexandra 1962-....
VIAF ID: 160238381 (Personal)
Permalink: http://viaf.org/viaf/160238381
Preferred Forms
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100 0 _ ‡a Alexandra Durr ‡c neurogénéticienne française
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100 1 _ ‡a Durr, Alexandra ‡d 1962-
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100 1 _ ‡a Dürr, Alexandra
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100 1 _ ‡a Dürr, Alexandra, ‡d 19..-....
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100 1 _ ‡a Dürr, Alexandra
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100 1 _ ‡a Dürr, Alexandra
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4xx's: Alternate Name Forms (6)
5xx's: Related Names (1)
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‡a
Paris
Works
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Amélioration d'un composé actif contre la maladie de Huntington |
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Ataxic disorders, 2012: |
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Conséquences du déficit en GCN2 chez le murin et l'Homme : implications en physiopathologie de la maladie veino-occlusive pulmonaire |
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CONTRIBUTION CLINIQUE A L'ETUDE GENETIQUE DES ATAXIES CEREBELLEUSES HEREDITAIRES |
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Deciphering de natural history of SCA7 in children. |
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Déficit énergétique dans la maladie de Huntington : outils diagnostiques et approches thérapeutiques |
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Detection of motor changes in Huntington's disease using dynamic causal modeling. - |
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Étude de l'homéostasie du fer dans des modèles cellulaires de l'ataxie de Friedreich et d'autres défauts de synthèse des centres Fe-S |
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Huntingtine et développement cortical |
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Identification de biomarqueurs et modélisation de la maladie en utilisant des approches multimodales de neuroimagerie dans les maladies polyglutamine. |
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Identification des facteurs modificateurs génétiques dans les Paraplégies Spastiques Héréditaires dues aux mutations du gène SPAST/SPG4. |
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Identification of new genes in syndromic recessive ataxias : involvement of moderate metabolic disorders. |
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Identification of therapeutic strategies on new Drosophila models of Friedreich's ataxia |
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Induced pluripotent stem cells-derived cardiomyocytes : a new model for Friedreich’s ataxia. |
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Maudit gène [Multimédia multisupport] |
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La neuroprotection par les homéoprotéines et le rôle d’ENGRAILED-1 dans la survie et la physiologie des motoneurones spinaux. |
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Operationalizing compensation over time in neurodegenerative disease |
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PARK6 is a common cause of familial parkinsonism |
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease |
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Personality and Neuropsychological Profiles in Friedreich Ataxia. |
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study |
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression |
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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia |
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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study |
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The potential of composite cognitive scores for tracking progression in Huntington's disease |
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Pour une meilleure compréhension de la physiopathologie de l'Ataxie de Friedreich : apport de protéomique quantitative pour la caractérisation des mécanismes moléculaires altérés |
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Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data |
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Prenatal testing in Huntington disease: after the test, choices recommence |
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Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. |
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study |
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Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients |
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Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners |
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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias. |
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Rapid eye movement sleep disturbances in Huntington disease |
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Recent advances in hereditary spastic paraplegia |
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome |
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Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. |
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REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. |
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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation |
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Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients |
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Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! |
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Reply: Updated frequency analysis of spinocerebellar ataxia in China. |
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Rôle de la huntingtine dans le muscle |
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Role of the cholesterol hydroxylase enzyme CYP46A1 in cholesterol metabolism and neuroprotection in Huntington's disease |
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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family |
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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia |
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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion |
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Self-rated health status in spinocerebellar ataxia--results from a European multicenter study |
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The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations |
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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation |
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Short-interval observational data to inform clinical trial design in Huntington's disease |
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy |
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Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. |
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia |
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SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. |
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Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. |
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Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies |
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A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia. |
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The structural correlates of functional deficits in early huntington's disease |
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Study of iron homeostasis in cellular models of Friedreich's Ataxia and other defects of iron-sulfur clusters synthesis. |
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Survival and severity in dominant cerebellar ataxias |
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Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis |
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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia |
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Testing a longitudinal compensation model in premanifest Huntington's disease |
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Therapeutic approach in Huntington's disease |
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment |
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Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease |
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Triheptanoin improves brain energy metabolism in patients with Huntington disease |
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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases |
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Validation of plasma branched chain amino acids as biomarkers in Huntington disease |
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Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. |
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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease |
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