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List of works by Agnès Camuzat

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

scientific article

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

scientific article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

scientific article

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

scientific article

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

scientific article published on 6 May 2003

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.

scientific article published on 30 May 2018

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

scientific article

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

scientific article published in April 2007

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

scientific article published in February 2008

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia

scientific article published in August 2003