Christelle M. Durand

Bordeaux, 33000, France

Last Updated: 09/26/2026

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Found 10 publications

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

Journal: International journal of molecular sciences

Published: July 09, 2026

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Journal: Neurogenetics

Published: March 12, 2025

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 08, 2023

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Journal: BMC neurology

Published: October 29, 2021

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

Journal: Journal of internal medicine

Published: July 26, 2020

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Journal: Human mutation

Published: June 19, 2017

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

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

Journal: Annals of neurology

Published: April 04, 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: February 07, 2015

Scribble1/AP2 complex coordinates NMDA receptor endocytic recycling.

Scribble1/AP2 complex coordinates NMDA receptor endocytic recycling.

Journal: Cell reports

Published: October 03, 2013

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 1-10 of 10

Last Updated: 09/26/2026