# Phenotypic spectrum of <i>GABRA1</i>

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/phenotypic-spectrum-of-i-gabra1-i/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Katrine M. Johannesen,Carla Marini,Siona Pfeffer,Rikke S. Møller,Thomas Dorn,Cristina Elena Niturad,Elena Gardella,Yvonne Weber,Marianne Søndergård,Helle Hjalgrim,Mariana Nikanorova,Felicitas Becker,Line H.G. Larsen,Hans A. Dahl,Oliver Maier,Davide Mei,Saskia Biskup,Karl Martin Klein,Philipp S. Reif,Felix Rosenow,Abdallah F. Elias,Cindy Hudson,Katherine L. Helbig,Susanne Schubert‐Bast,Maria Rosaria Scordo,Dana Craiu,Tania Djémié,Dorota Hoffman‐Zacharska,Hande Çağlayan,Ingo Helbig,José M. Serratosa,Pasquale Striano,Peter De Jonghe,Sarah Weckhuysen,Arvid Suls,Kai Muru,Inga Talvik,Tiina Talvik,Hiltrud Muhle,Ingo Borggraefe,Imma Rost,Renzo Guerrini,Holger Lerche,Johannes R. Lemke,Guido Rubboli,Snezana Maljevic |
| Citations | 142 |
| DOI | 10.1212/wnl.0000000000003087 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://n.neurology.org/content/neurology/87/11/1140.full.pdf |
| OpenAlex ID | https://openalex.org/W2510633174 |
| PMID | 27521439 |
| Type | article |
| Year | 2016 |

## Paper authors

- [Susanne Schubert‐Bast](https://scholariq.org/researchers/susanne-schubert-bast/)

## Paper journal

- [Neurology](https://scholariq.org/journals/neurology/)

## Paper primary topic

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)

## Paper topics

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

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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.