Ganaelle Remerand

Clermont-ferrand, France

Last Updated: 09/26/2026

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Found 13 publications

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Journal: Epilepsia

Published: July 19, 2023

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Journal: Molecular genetics and metabolism

Published: September 20, 2021

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 05, 2021

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

Journal: European journal of medical genetics

Published: September 30, 2020

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

Journal: Neurology. Genetics

Published: June 18, 2020

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Journal: Annals of clinical and translational neurology

Published: December 09, 2019

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Journal: Developmental medicine and child neurology

Published: July 07, 2019

Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).

Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).

Journal: Acta neurologica Belgica

Published: March 01, 2019

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Journal: European journal of medical genetics

Published: December 22, 2017

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Journal: Journal of medical genetics

Published: September 06, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026