Work

The Attenuated Phenotype of CNTNAP1 ‐Related Neuropathy Mimics Spastic–Dystonic Cerebral Palsy

Year: 2025

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.64154

Authors: Magdalena Krygier, Michael Zech, Magdalena Chylińska, Dominik Świętoń, Marta Zawadzka, Agnieszka Pollak, Grażyna Kostrzewa, Maria Mazurkiewicz‐Bełdzińska, Rafał Płoski

Institutions: Gdańsk Medical University, Helmholtz Munich, Institut für Humangenetik, Technical University of Munich, Medical University of Warsaw

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

Funders: Deutsche Forschungsgemeinschaft, Else Kröner-Fresenius-Stiftung

Awards: G2062271078, G2072208183, Ganzgenom und Transkriptomsequenzierung zur Identifizierung neuer Krankheitsgene für Dystonie

OpenAlex ID: W4411354000

FWCI:

Cites: 15

Cited by:

Related to: 10