List of works - Isabelle Le Ber

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

article

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

Autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article published on January 2012

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

scientific article (publication date: December 2003)

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

scientific article published on January 2012

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

scientific article

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

scientific article

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions

scientific article published on 28 June 2014

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

article

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

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

scientific article published on 30 May 2018

Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R.

scientific article published in January 2013

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

scientific article published on 13 December 2007

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

scientific article published in April 2007

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

New autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article

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

scientific article published in February 2008

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

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

scientific article published in August 2003

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

scientific article published in February 2011

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

scientific article published on 19 July 2016

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

List of works by Isabelle Le Ber

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

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

Autosomal recessive cerebellar ataxias with oculomotor apraxia

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

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

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Frontotemporal dementia and its subtypes: a genome-wide association study

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

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

Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

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

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

New autosomal recessive cerebellar ataxias with oculomotor apraxia

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

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

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

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.