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Health Technology Assessment (Winchester, England)|June 30, 2016
DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trialChristopher J McDermott, Mike J Bradburn, Chin Maguire, et al.Nature Genetics|September 2, 2004
The European dimension for the mouse genome mutagenesis programJohan Auwerx, Phil Avner, Richard Baldock, et al.Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.Genetica|December 29, 2004
Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disordersSohaila Rastan, Tertius Hough, Amy Kierman, et al.Nucleic Acids Research|April 10, 2025
High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translationMaartje J Luteijn, Varun Bhaskar, Dominic Trojer, et al.Nature Communications|August 29, 2024
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypesRenata Vieira de Sá, Emma Sudria-Lopez, Marta Cañizares Luna, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.The Journal of Clinical Investigation|August 14, 2020
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementiaMercedes Prudencio, Jack Humphrey, Sarah Pickles, et al.The Lancet. Neurology|March 31, 2018
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction modelHenk-Jan Westeneng, Thomas P A Debray, Anne E Visser, et al.The Lancet. Neurology|March 13, 2012
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyElisa Majounie, Alan E Renton, Kin Mok, et al.Pageof 24