Anna Wissocq

Lille, 59000, France

Last Updated: 09/26/2026

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Found 8 publications

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

Journal: Journal of neurology

Published: April 21, 2025

Two case reports of RAB39B deletion displaying highly variable parkinsonism.

Two case reports of RAB39B deletion displaying highly variable parkinsonism.

Journal: Parkinsonism & related disorders

Published: December 12, 2024

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Journal: BMC neurology

Published: June 06, 2024

Reply to: "Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome".

Reply to: "Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome".

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

Published: May 18, 2024

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

Journal: European journal of ophthalmology

Published: April 13, 2024

Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.

Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.

Journal: Heliyon

Published: March 27, 2024

RFC1: Motifs and phenotypes.

RFC1: Motifs and phenotypes.

Journal: Revue neurologique

Published: January 30, 2024

Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).

Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).

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

Published: November 24, 2023

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Last Updated: 09/26/2026