Expanded phenotype of AARS1-related white matter disease
Expanded phenotype of AARS1-related white matter disease
About this item
Full title
Author / Creator
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 and Husain, Ralf A.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with
AARS1-
related disease.
Methods
A cross-sectional survey was performed on individuals wi...
Alternative Titles
Full title
Expanded phenotype of AARS1-related white matter disease
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2604247011
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2604247011
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01286-8
