Claire Ewenczyk

Paris, France

Last Updated: 09/26/2026

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Found 62 publications

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Journal: Cerebellum (London, England)

Published: March 23, 2026

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

Journal: Cerebellum (London, England)

Published: February 08, 2026

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

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study.

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study.

Journal: The Lancet regional health. Europe

Published: August 06, 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

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.

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

Published: May 16, 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

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

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

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

Published: December 27, 2024

Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

Journal: European journal of neurology

Published: September 09, 2024

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Journal: European journal of neurology

Published: August 26, 2024

Showing 1-12 of 62

Last Updated: 09/26/2026