Claudia Dufke

Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 19 publications

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Journal: International journal of molecular sciences
Published: April 10, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications
Published: March 31, 2025

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

Journal: EBioMedicine
Published: August 20, 2024

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

Journal: Journal of neurology
Published: December 30, 2023

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

Journal: Nature genetics
Published: November 03, 2023

Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.

Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.

Journal: Nature communications
Published: August 03, 2023

Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.

Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.

Journal: Journal of neurology
Published: April 12, 2023

Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.

Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.

Journal: Neurology
Published: February 01, 2023

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 12, 2022

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Journal: Neurology
Published: July 18, 2022

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Journal: European journal of neurology
Published: January 19, 2022

Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.

Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.

Journal: Parkinsonism & related disorders
Published: June 09, 2021
Showing 1-12 of 19

Last Updated: 09/26/2026