Annabelle Chaussenot

Nice, France

Last Updated: 09/26/2026

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Found 56 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology
Published: May 26, 2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology
Published: January 15, 2026

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Journal: Mitochondrion
Published: November 15, 2025

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Journal: Brain : a journal of neurology
Published: July 02, 2025

From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.

From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.

Journal: Mitochondrion
Published: June 23, 2025

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Journal: Journal of the peripheral nervous system : JPNS
Published: April 16, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 27, 2024

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Journal: Annals of clinical and translational neurology
Published: February 26, 2024

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.

Journal: European journal of human genetics : EJHG
Published: February 07, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology
Published: January 28, 2024

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Journal: Genes
Published: November 08, 2023

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

Journal: European journal of medical genetics
Published: April 28, 2022
Showing 1-12 of 56

Last Updated: 09/26/2026