Mathilde Renaud

Nancy, France

Last Updated: 09/26/2026

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Found 96 publications

Alzheimer's disease and nutrition: Focus on the impact of hyperhomocysteinemia.

Alzheimer's disease and nutrition: Focus on the impact of hyperhomocysteinemia.

Journal: Journal of Alzheimer's disease : JAD
Published: August 01, 2026

Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.

Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.

Journal: Journal of neurology
Published: March 07, 2026

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study.

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 20, 2026

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Journal: American journal of medical genetics. Part A
Published: January 02, 2026

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 18, 2025

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Journal: Frontiers in neurology
Published: November 25, 2025

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Journal: Frontiers in neurology
Published: November 25, 2025

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Journal: EBioMedicine
Published: November 03, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics
Published: September 02, 2025

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Journal: Journal of neurology
Published: August 05, 2025

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Journal: American journal of medical genetics. Part A
Published: April 21, 2025
Showing 1-12 of 96

Last Updated: 09/26/2026