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List of works by Lydie Burglen

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients ⬇️

scientific article published on November 1, 1995

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients

scientific article published on 26 April 2020

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

MFN2, a new gene responsible for mitochondrial DNA depletion ⬇️

scientific article published on May 3, 2012

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

scientific article published on 30 November 2020

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

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

scientific article published on 28 October 2013

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

SMN gene deletion in variant of infantile spinal muscular atrophy ⬇️

scientific article published on July 29, 1995

The role of the SMN gene in proximal spinal muscular atrophy ⬇️

scientific article published on 01 January 1998

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