NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)-Reference-Cited by-同舟云学术

NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Published:2014-04-04 Issue:7 Volume:164 Page:1802-1807
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ferreira Carlos¹,Poretti Andrea²,Cohen Julie³,Hamosh Ada⁴,Naidu Sakkubai⁵

Affiliation:

1. National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science; Johns Hopkins University School of Medicine; Baltimore Maryland

3. Department of Neurology and Developmental Medicine; Kennedy Krieger Institute; Baltimore Maryland

4. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

5. Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36526/fullpdf

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4. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia;Hersheson;Ann Neurol,2013

5. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes;Leandro-García;Cytoskeleton,2010

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3. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations;2022-06-17

4. A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia;Human Genome Variation;2022-06-03

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