Diffuse hypomyelination is not obligate for POLR3-related disorders

OBJECTIVE: To report atypical MRI patterns associated with POLR3A and POLR3B mutations. METHODS: This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype, i.e., diffuse hypomy...

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Udgivet i:Neurology
Main Authors: La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4844237/
https://ncbi.nlm.nih.gov/pubmed/27029625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002612
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