Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Nathalie Drouot

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

scientific article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

scientific article published on 01 October 2018

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

Paulina is supported by:

About Paulina

Help