Work

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

Year: 2018

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.13390

Authors: H. Hengel, R. Keimer, W. Deigendesch, A. Rieß, H. Marzouqa, J. Zaidan, P. Bauer, L. Schöls

Institutions: German Center for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Holy Family Hospital Nazareth

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Deutsche Forschungsgemeinschaft

Award: G5255864586

OpenAlex ID: W2807102597

FWCI: 0.777

Cites: 14

Cited by: 18

Related to: 10