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Brain : a Journal of Neurology|December 10, 2024
Rethinking phase 2 trials in amyotrophic lateral sclerosisMichael Benatar, Christopher McDermott, Martin R Turner, et al.Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|March 26, 2024
Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview studyJade Howard, Fadhila Mazanderani, Karen Forrest Keenan, et al.Journal of Genetic Counseling|April 17, 2024
Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview studyJade Howard, Karen Forrest Keenan, Fadhila Mazanderani, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 19, 2016
Analysis of terms used for the diagnosis and classification of amyotrophic lateral sclerosis and motor neuron diseaseZoe Rutter-Locher, Martin R Turner, P Nigel Leigh, et al.Scientific Reports|May 5, 2022
Hyperexcitability in young iPSC-derived C9ORF72 mutant motor neurons is associated with increased intracellular calcium releaseSarah Burley, Dayne A Beccano-Kelly, Kevin Talbot, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 4, 2013
The impact of fatigue and psychosocial variables on quality of life for patients with motor neuron diseaseChris Gibbons, Everard Thornton, John Ealing, et al.Human Molecular Genetics|December 26, 2013
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D miceJames N Sleigh, Stuart J Grice, Robert W Burgess, et al.Human Molecular Genetics|December 22, 2005
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoesSteven Ackerley, Paul A James, Arran Kalli, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Frequency and signature of somatic variants in 1461 human brain exomesWei Wei, Michael J Keogh, Juvid Aryaman, et al.Brain Pathology (Zurich, Switzerland)|July 24, 2022
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBPJohnathan Cooper-Knock, Thomas H Julian, Emily Feneberg, et al.Pageof 35