Doris Lechner

Evry, France

Last Updated: 09/26/2026

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Found 13 publications

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.

Journal: European journal of endocrinology

Published: June 08, 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Journal: European journal of human genetics : EJHG

Published: October 26, 2018

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Journal: Muscle & nerve

Published: August 09, 2017

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Journal: Neuromuscular disorders : NMD

Published: December 19, 2016

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: October 18, 2016

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

Journal: Molecular psychiatry

Published: July 20, 2016

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Journal: American journal of human genetics

Published: April 04, 2016

Variation in genomic landscape of clear cell renal cell carcinoma across Europe.

Variation in genomic landscape of clear cell renal cell carcinoma across Europe.

Journal: Nature communications

Published: May 30, 2014

Association between circadian genes, bipolar disorders and chronotypes.

Association between circadian genes, bipolar disorders and chronotypes.

Journal: Chronobiology international

Published: April 11, 2014

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

Journal: Human molecular genetics

Published: April 02, 2014

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Journal: American journal of human genetics

Published: June 28, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026