Gwenael Le Guyader

Poitiers, France

Last Updated: 09/26/2026

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Found 39 publications

Childhood Presentations of Spinocerebellar Ataxia Type 27A: Clinical Variability and Management Considerations.

Childhood Presentations of Spinocerebellar Ataxia Type 27A: Clinical Variability and Management Considerations.

Journal: Pediatric neurology

Published: October 17, 2025

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Journal: Molecular psychiatry

Published: October 02, 2025

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Journal: Clinical genetics

Published: April 25, 2025

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Journal: European journal of neurology

Published: March 10, 2025

Hepatic encephalopathy related to post-radiotherapy stenosis of the common femoral vein

Hepatic encephalopathy related to post-radiotherapy stenosis of the common femoral vein

Journal: La Revue de medecine interne

Published: July 02, 2024

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Journal: European journal of human genetics : EJHG

Published: June 20, 2024

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Journal: Orphanet journal of rare diseases

Published: October 06, 2023

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: September 07, 2023

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Journal: European journal of medical genetics

Published: August 31, 2023

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

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

Published: July 11, 2023

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Journal: Journal of medical genetics

Published: March 07, 2023

Showing 1-12 of 39

Last Updated: 09/26/2026