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Movement Disorders : Official Journal of the Movement Disorder Society|January 11, 2014
Screening of mutations in GNAL in sporadic dystonia patientsClaudia Dufke, Marc Sturm, Christopher Schroeder, et al.Plos One|June 23, 2017
Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasiaPerikles Kosmidis, Irina Bonzheim, Claudia Dufke, et al.Neurology|July 17, 2023
Frequency and Phenotype of <i>RFC1</i> Repeat Expansions in Bilateral VestibulopathyAndreas Traschütz, Felix Heindl, Muhammad Bilal, et al.Journal of Neurology|February 21, 2024
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profileDavid Pellerin, Felix Heindl, Andreas Traschütz, et al.International Journal of Molecular Sciences|June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA RepeatsJoohyun Park, Claudia Dufke, Zofia Fleszar, et al.European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.Neurogenetics|May 4, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia Dufke, Nina Schlipf, Rebecca Schüle, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2020
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia PhenotypeMarlous C M van der Weijden, Dayana Rodriguez-Contreras, Cathérine C S Delnooz, et al.Neurology|February 16, 2023
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, et al.Pageof 2