Novel (ovario) leukodystrophy related to AARS2 mutations

OBJECTIVES: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype. METHODS: Independ...

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Detalhes bibliográficos
Main Authors: Dallabona, Cristina, Diodato, Daria, Kevelam, Sietske H., Haack, Tobias B., Wong, Lee-Jun, Salomons, Gajja S., Baruffini, Enrico, Melchionda, Laura, Mariotti, Caterina, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Chapman, Kim, Colley, Alison, Rocha, Helena, Őunap, Katrin, Schiffmann, Raphael, Salsano, Ettore, Savoiardo, Mario, Hamilton, Eline M., Abbink, Truus E. M., Wolf, Nicole I., Ferrero, Ileana, Lamperti, Costanza, Zeviani, Massimo, Vanderver, Adeline, Ghezzi, Daniele, van der Knaap, Marjo S.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4118500/
https://ncbi.nlm.nih.gov/pubmed/24808023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000497
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