Expanded phenotype of AARS1-related white matter disease

Author:

Helman Guy,Mendes Marisa I.,Nicita Francesco,Darbelli Lama,Sherbini Omar,Moore Travis,Derksen Alexa,Amy Pizzino ,Carrozzo Rosalba,Torraco Alessandra,Catteruccia Michela,Aiello Chiara,Goffrini Paola,Figuccia Sonia,Smith Desiree E.C.,Hadzsiev Kinga,Hahn Andreas,Biskup Saskia,Brösse Ines,Kotzaeridou Urania,Gauck Darja,Grebe Theresa A.,Elmslie Frances,Stals Karen,Gupta Rajat,Bertini Enrico,Thiffault Isabelle,Taft Ryan J.,Schiffmann Raphael,Brandl Ulrich,Haack Tobias B.,Salomons Gajja S.,Simons Cas,Bernard Geneviève,van der Knaap Marjo S.,Vanderver Adeline,Husain Ralf A.

Funder

National Health and Medical Research Council

Ministero della Salute

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference17 articles.

1. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease;Meyer-Schuman,2017

2. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis,2008

3. Aminoacyl-tRNA synthetase deficiencies in search of common themes;Fuchs,2019

4. Mutations in RARS cause hypomyelination;Wolf,2014

5. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect;Simons,2015

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