NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

OBJECTIVE: To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern. METHODS: We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-e...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Kevelam, Sietske H., Rodenburg, Richard J., Wolf, Nicole I., Ferreira, Patrick, Lunsing, Roelineke J., Nijtmans, Leo G., Mitchell, Anne, Arroyo, Hugo A., Rating, Dietz, Vanderver, Adeline, van Berkel, Carola G.M., Abbink, Truus E.M., Heutink, Peter, van der Knaap, Marjo S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2013
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662327/
https://ncbi.nlm.nih.gov/pubmed/23553477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828f1914
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk