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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.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.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 World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 28, 2017
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological PsychiatryPiotr Lewczuk, Peter Riederer, Sid E O'Bryant, 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.Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.Pageof 23