Cyril Goizet

Bordeaux, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 167 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

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 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

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Journal: European journal of human genetics : EJHG

Published: December 09, 2025

A deep learning model for speech-based prediction of clinical scores in people with Huntington's disease: a longitudinal study with cross-sectional replication.

A deep learning model for speech-based prediction of clinical scores in people with Huntington's disease: a longitudinal study with cross-sectional replication.

Journal: The Lancet. Digital health

Published: September 26, 2025

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Journal: BMC medicine

Published: July 29, 2025

A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy.

A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: July 25, 2025

Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvement.

Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvement.

Journal: Haematologica

Published: June 17, 2025

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Journal: Revue neurologique

Published: March 26, 2025

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Journal: Movement disorders clinical practice

Published: March 21, 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

The Two Faces of Pediatric SCA2.

The Two Faces of Pediatric SCA2.

Journal: European journal of neurology

Published: March 05, 2025

Showing 1-12 of 167

Last Updated: 09/26/2026