Biallelic mutations in NRROS cause an early onset lethal microgliopathy-Reference-Cited by-同舟云学术

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Published:2020-02-25 Issue:5 Volume:139 Page:947-951
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Smith Colin,McColl Barry W.,Patir Anirudh,Barrington Jack,Armishaw Jeremy,Clarke Antonia,Eaton Jenny,Hobbs Vivienne,Mansour Sahar,Nolan Melinda,Rice Gillian I.,Rodero Mathieu P.,Seabra Luis,Uggenti Carolina,Livingston John H.,Bridges Leslie R.,Jeffrey Iona J. M.,Crow Yanick J.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-020-02137-7.pdf

Reference21 articles.

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3. Goldmann T, Zeller N, Raasch J, Kierdorf K, Frenzel K, Ketscher L et al (2015) USP18 lack in microglia causes destructive interferonopathy of the mouse brain. EMBO J 34:1612–1629. https://doi.org/10.15252/embj.201490791

4. Guerreiro RJ, Lohmann E, Bras JM, Gibbs JR, Rohrer JD, Gurunlian N et al (2013) Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol 70:78–84. https://doi.org/10.1001/jamaneurol.2013.579

5. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T et al (2019) Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation. Am J Hum Genet 104:925–935. https://doi.org/10.1016/j.ajhg.2019.03.004

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