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Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

Lookup NU author(s): Dr Nichola Lax, Dr Langping He, Gavin Falkous, Professor Bobby McFarlandORCiD, Professor Robert Taylor



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Lax NZ, Alston CL, Schon K, Park S, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW

Publication type: Article

Publication status: Published

Journal: Journal of Neuropathology & Experimental Neurology

Year: 2015

Volume: 74

Issue: 7

Pages: 688-703

Print publication date: 01/07/2015

Date deposited: 22/07/2015

ISSN (print): 0022-3069

ISSN (electronic): 1554-6578

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/NEN.0000000000000209


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Funder referenceFunder name
Lily Foundation
National Institute for Health Research (NIHR) Biomedical Research Centre based at Imperial College Healthcare NHS Trust
UK NHS Highly Specialised Commissioners - "Rare Mitochondrial Disorders of Adults and Children" Diagnostic Service in Newcastle upon Tyne
Imperial College London
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease Research
NIHR-HCS-D12-03-04National Institute for Health Research (NIHR)
096919/z/11/zWellcome Trust