# Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-dnmt1-cause-autosomal-dominant-cerebellar-ataxia-deafness-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Juliane Winkelmann,Ling Lin,Barbara Schormair,Birgitte Rahbek Kornum,Juliette Faraco,Giuseppe Plazzi,Atle Melberg,F. Cornelio,Alexander E. Urban,Fabio Pizza,Francesca Poli,Fabian Grubert,Thomas Wieland,Elisabeth Graf,Joachim Hallmayer,Tim M. Strom,Emmanuel Mignot |
| Citations | 265 |
| DOI | 10.1093/hmg/dds035 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://academic.oup.com/hmg/article-pdf/21/10/2205/17254642/dds035.pdf |
| OpenAlex ID | https://openalex.org/W2155212164 |
| PMID | 22328086 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Fabio Pizza](https://scholariq.org/researchers/fabio-pizza/)
- [Giuseppe Plazzi](https://scholariq.org/researchers/giuseppe-plazzi/)
- [Francesca Poli](https://scholariq.org/researchers/francesca-poli/)
- [Tim M. Strom](https://scholariq.org/researchers/tim-m-strom/)
- [Emmanuel Mignot](https://scholariq.org/researchers/emmanuel-mignot-2/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Sleep and Wakefulness Research](https://scholariq.org/topics/sleep-and-wakefulness-research/)
- [Epigenetics and DNA Methylation](https://scholariq.org/topics/epigenetics-and-dna-methylation/)

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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.