Stephan Züchner

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions

Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia

Genetic ancestry and population structure in the All of Us Research Program cohort

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort

Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases

Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot population

The GENESIS database and tools: A decade of discovery in Mendelian genomics

Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Deep structured learning for variant prioritization in Mendelian diseases

Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

<scp>Non‐GAA</scp> Repeat Expansions in <scp><i>FGF14</i></scp> Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family”