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Publications by Stephan Züchner

Author Correction: Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia

Nature Genetics

English

The mtDNA Mutation Spectrum of the Progeroid Polg Mutator Mouse Includes Abundant Control Region Multimers

Cell Metabolism

Molecular Biology

English

Parkinsonism and Distinct Dementia Patterns in a Family With the MAPT R406W Mutation

Alzheimer's and Dementia

Molecular Neuroscience

Developmental Neuroscience

English

Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family

Annals of Neurology

English

Cover Image, Volume 39, Issue 3

English

De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English

Mutation Screening of Mitofusin 2 in Charcot-Marie-Tooth Disease Type 2

Journal of Neurology

English

Absence of Dystrophin Related Protein-2 Disrupts Cajal Bands in a Patient With Charcot–Marie–Tooth Disease

Neuromuscular Disorders

English

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Journal of Neuromuscular Diseases

English

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Frontiers in Neurology

English