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List of works by Edgard Verdura

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

scientific article published on 18 December 2019

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

scientific article published on 15 August 2020

A novel mutation in the gene expands the phenotype of Alexander disease

article

Can whole-exome sequencing data be used for linkage analysis?

scientific article published on 15 July 2015

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

scientific article published on 05 October 2019

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

scientific article

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

scientific article published on 14 May 2020

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

scientific article published on 26 September 2016

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

scientific article

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

scientific article

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

scientific article

LMNA mutation in progeroid syndrome in association with strokes.

scientific article published on 18 July 2011

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

scientific article

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