Claire-sophie Davoine

Paris, 75013, France

Last Updated: 09/26/2026

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Found 16 publications

No role of intronic expansions in HSF1 for essential tremor in Europe.

No role of intronic expansions in HSF1 for essential tremor in Europe.

Journal: Brain : a journal of neurology

Published: December 24, 2025

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Journal: Neurology

Published: December 19, 2025

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.

Journal: Brain : a journal of neurology

Published: June 02, 2025

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: Brain : a journal of neurology

Published: July 01, 2024

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Journal: EBioMedicine

Published: October 02, 2023

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

Journal: Neurology. Genetics

Published: February 01, 2023

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Journal: Journal of medical genetics

Published: September 07, 2022

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

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

Published: June 29, 2022

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

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

Published: December 23, 2020

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

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

Published: March 20, 2020

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Journal: Neurology

Published: October 14, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026