Jean-loup Mereaux

Paris, 75013, France

Last Updated: 09/26/2026

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Found 14 publications

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

Journal: Genes

Published: April 17, 2026

No role of intronic expansions in HSF1 for essential tremor in Europe.

No role of intronic expansions in HSF1 for essential tremor in Europe.

Journal: Brain : a journal of neurology

Published: December 24, 2025

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Journal: Neurology

Published: December 19, 2025

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.

Journal: Brain : a journal of neurology

Published: June 02, 2025

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: Brain : a journal of neurology

Published: July 01, 2024

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Journal: EBioMedicine

Published: October 02, 2023

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Journal: Journal of medical genetics

Published: September 07, 2022

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 09, 2021

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Journal: Neurogenetics

Published: December 04, 2020

Bilateral facial palsy in an older person.

Bilateral facial palsy in an older person.

Journal: Age and ageing

Published: November 07, 2019

Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature.

Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature.

Journal: Headache

Published: March 29, 2019

Showing 1-12 of 14

Last Updated: 09/26/2026