ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss-Reference-Cited by-同舟云学术

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Published:2017-03-01 Issue:5 Volume:140 Page:1267-1279
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Anttonen Anna-Kaisa,Laari Anni,Kousi Maria,Yang Yawei J.,Jääskeläinen Tiina,Somer Mirja,Siintola Eija,Jakkula Eveliina,Muona Mikko,Tegelberg Saara,Lönnqvist Tuula,Pihko Helena,Valanne Leena,Paetau Anders,Lun Melody P.,Hästbacka Johanna,Kopra Outi,Joensuu Tarja,Katsanis Nicholas,Lehtinen Maria K.,Palvimo Jorma J.,Lehesjoki Anna-Elina

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/140/5/1267/18223411/awx040.pdf

Reference45 articles.

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4. Proteomic and 3D structure analyses highlight the C/D box snoRNP assembly mechanism and its control;J Cell Biol,2014

5. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies;Genome Res,2015

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3. Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome;American Journal of Medical Genetics Part A;2023-10-05

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