Fabienne Clot

Paris, France

Last Updated: 09/26/2026

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Found 40 publications

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Journal: Brain : a journal of neurology

Published: July 02, 2025

Correction: Respiratory failure as main presentation sign of MAPT-related disorder.

Correction: Respiratory failure as main presentation sign of MAPT-related disorder.

Journal: Journal of neurology

Published: April 11, 2025

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Journal: NPJ Parkinson's disease

Published: March 11, 2025

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.

Journal: Brain communications

Published: October 31, 2024

Respiratory failure as main presentation sign of MAPT-related disorder.

Respiratory failure as main presentation sign of MAPT-related disorder.

Journal: Journal of neurology

Published: September 30, 2024

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease.

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 08, 2024

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Journal: Alzheimer's research & therapy

Published: October 27, 2023

Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant.

Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant.

Journal: Parkinsonism & related disorders

Published: August 04, 2023

Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients.

Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients.

Journal: Journal of Alzheimer's disease : JAD

Published: July 02, 2023

Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.

Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.

Journal: Neurobiology of disease

Published: February 21, 2023

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Journal: Human genomics

Published: December 01, 2022

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: June 07, 2021

Showing 1-12 of 40

Last Updated: 09/26/2026