# Stephan Züchner

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/stephan-zuchner/

## Facts

| Field | Value |
| --- | --- |
| Citations | 22,434 |
| Field | Hereditary Neurological Disorders |
| h-index | 77 |
| i10-index | 248 |
| Last Known Institution | University of Miami |
| OpenAlex ID | https://openalex.org/A5031669486 |
| ORCID iD | https://orcid.org/0000-0002-8498-5235 |
| Works | 417 |

## Researcher papers

- [The Human Phenotype Ontology in 2017](https://scholariq.org/papers/the-human-phenotype-ontology-in-2017/)
- [Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS](https://scholariq.org/papers/validation-of-serum-neurofilaments-as-prognostic-and-potential-pharmacodynamic/)
- [Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder](https://scholariq.org/papers/mutations-in-slc25a46-encoding-a-ugo1-like-protein-cause-an-optic-atrophy/)
- [Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy](https://scholariq.org/papers/compound-heterozygosity-for-loss-of-function-lysyl-trna-synthetase-mutations-in/)
- [Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes](https://scholariq.org/papers/biallelic-mutations-in-sord-cause-a-common-and-potentially-treatable-hereditary/)

## Researcher topics

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [Neurological diseases and metabolism](https://scholariq.org/topics/neurological-diseases-and-metabolism/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Researcher university

- [University of Miami](https://scholariq.org/institutions/university-of-miami/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.