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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



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


DOI: 10.1093/braincomms/fcab163

PubMed id: 34423300


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Funder referenceFunder name
Cancer Research UK
Medical Research Council
Medical Research Council Discovery Medicine North Training Partnership
National Institute for Health Research
NHS England
Northern Counties Kidney Research Fund
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