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...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2013
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Article
Accesso online: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
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