Work

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Year: 2018

Type: article

Study design: Case Report

Source: Journal of Child Neurology

DOI: 10.1177/0883073818811223

Authors: Andrea Accogli, Kether Guerrero, Maria Daniela D’Agostino, Luan Tran, Cécile Cieuta-Walti, Isabelle Thiffault, Sébastien Chénier, Jeremy Schwartzentruber, Jacek Majewski, Geneviève Bernard

Institutions: Istituto Giannina Gaslini, McGill University, University of Genoa, McGill University Health Centre, Research Institute of the McGill University Health Centre, Université de Sherbrooke, Fondation Jérôme-Lejeune, Children's Mercy Hospital, University of Missouri–Kansas City, Centre Hospitalier Universitaire de Sherbrooke

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: Canadian Institutes of Health Research

OpenAlex ID: W2902206402

FWCI: 0.489

Cites: 29

Cited by: 14

Related to: 10