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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Lookup NU author(s): Laura Powell, Dr Eric OlingerORCiD, Dr Sarah RiceORCiD, Miguel Barroso Gil, Ian Wilson, Dr Sally Johnson, Dr Tara Montgomery, Dr Marta Bertoli, Professor John SayerORCiD

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


Publication metadata

Author(s): Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA

Publication type: Article

Publication status: Published

Journal: Brain Communications

Year: 2021

Volume: 3

Issue: 3

Print publication date: 16/07/2021

Online publication date: 16/07/2021

Acceptance date: 27/05/2021

Date deposited: 19/10/2023

ISSN (print): 0006-8950

ISSN (electronic): 2632-1297

Publisher: Oxford University Press

URL: https://doi.org/10.1093/braincomms/fcab163

DOI: 10.1093/braincomms/fcab163

PubMed id: 34423300


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Funding

Funder referenceFunder name
Cancer Research UK
Medical Research Council
Medical Research Council Discovery Medicine North Training Partnership
NHS England
National Institute for Health Research
Northern Counties Kidney Research Fund
P2ZHP3_195181
Paed_RP_001_20180925Kidney Research UK (was National Kidney Research Fund)
ST_001_20171120Kidney Research UK (was National Kidney Research Fund)
Swiss National Science Foundation
Wellcome Trust

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