Litcius/Paper detail

Expanded phenotype of AARS1-related white matter disease

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

2021Genetics in Medicine23 citationsDOIOpen Access PDF

Topics & Concepts

DiseaseWhite matterPhenotypeNeuroimagingLeukoencephalopathyMedicineAge of onsetClinical phenotypeEncephalopathyEpilepsyPediatricsBiologyPathologyInternal medicineMagnetic resonance imagingGeneticsPsychiatryRadiologyGeneRNA and protein synthesis mechanismsRNA regulation and diseaseRNA modifications and cancer