Results 31 to 40 of about 164,738 (314)

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

Frontiers in Molecular Neuroscience, 2021
The past decade has seen a rapid acceleration in the discovery of new genetic causes of ALS, with more than 20 putative ALS-causing genes now cited. These genes encode proteins that cover a diverse range of molecular functions, including free radical ...
Flora Cheng, Alana De Luca, Alison L. Hogan, Stephanie L. Rayner, Jennilee M. Davidson, Maxinne Watchon, Claire H. Stevens, Claire H. Stevens, Sonia Sanz Muñoz, Sonia Sanz Muñoz, Lezanne Ooi, Lezanne Ooi, Justin J. Yerbury, Justin J. Yerbury, Emily K. Don, Jennifer A. Fifita, Maria D. Villalva, Hannah Suddull, Tyler R. Chapman, Thomas J. Hedl, Adam K. Walker, Adam K. Walker, Shu Yang, Marco Morsch, Bingyang Shi, Ian P. Blair, Angela S. Laird, Roger S. Chung, Albert Lee   +28 more
doaj   +1 more source

Motor Neurone Disease [PDF]

Postgraduate Medical Journal, 1962
THE story of motor neurone disease goes back more than a hundred years, to the latter half of the igth century, and the days of the great clinical neurologists of France. Of the many famous names linked to this story three are pre-eminent: Charcot-physician and neuropathologist, and great teacher, who became even more renowned for his studies of ...
openaire   +2 more sources

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]

, 2009
Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Hazel P Williams, Greensmith Linda, Francesca Achilli, Ruth Chia, Elizabeth M. C. Fisher, Hazel P. Williams, Fisher Elizabeth M. C., Achilli, F., Chia, R, Bryson, J.B., Bros-Facer, V., Greensmith, L., Bros-Facer, V, Banks, G.T., Bryson, JB, Banks, GT, Fisher, EMC, Bros-Facer Virginie, Linda Greensmith, Fisher, E.M.C., Banks Gareth T., Chia, R., Gareth T Banks, Williams, HP, Greensmith, L, Williams Hazel P., Elizabeth M C Fisher, J Barney Bryson, Gareth T. Banks, Virginie Bros-Facer, Achilli Francesca, Williams, H.P., Bryson J. Barney, Chia Ruth, J. Barney Bryson, Achilli, F   +35 more
core   +1 more source

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)

Neurobiology of Disease, 2022
Investigations into the pathogenetic mechanisms underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have provided significant insight into the disease.
Jennilee M. Davidson, Roger S. Chung, Albert Lee   +2 more
doaj   +1 more source

Telehealth for motor neurone disease [PDF]

Medical Journal of Australia, 2014
Tᴏ ᴛʜᴇ Eᴅɪᴛᴏʀ: Telehealth is an expanding area with emerging evidence of use in the management of motor neurone disease (MND) and home mechanical ventilation. Here, we report our experience with the use of telehealth for managing MND in Queensland.
Henderson, Robert D., Hutchinson, Nicole, Douglas, James A., Douglas, Carol   +3 more
openaire   +5 more sources

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
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Functional genetic analysis of motor neuron disease

, 2010
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the commonest motor neuron diseases of adult- and childhood onset. Alterations of the RNA binding protein TDP-43 are associated with most cases of ALS, while SMA is caused by ...
Bäumer, Dirk
core   +2 more sources

Plasma Neurofilament Heavy Chain Levels Correlate to Markers of Late Stage Disease Progression and Treatment Response in SOD1(G93A) Mice that Model ALS [PDF]

, 2012
Background: Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterised by progressive degeneration of motor neurons leading to death, typically within 3–5 years of symptom onset. The diagnosis of ALS is largely reliant
Greensmith Linda, Dick, J., Lu, C.H., Malaspina, A., Kalmar, B., Greensmith, L., Dick, J, Petzold, A.F.S., Petzold, A, Linda Greensmith, Malaspina Andrea, Petzold Axel, Greensmith, L, Kalmar Bernadett, Kalmar, B, Dick James, Lu Ching-Hua, Lu, CH, Bernadett Kalmar, James Dick, Ching-Hua Lu, Lu, C-H, Andrea Malaspina, Malaspina, A, Axel Petzold   +24 more
core   +1 more source

Real-time visualization of oxidative stress-mediated neurodegeneration of individual spinal motor neurons in vivo

Redox Biology, 2018
Generation of reactive oxygen species (ROS) has been shown to be important for many physiological processes, ranging from cell differentiation to apoptosis. With the development of the genetically encoded photosensitiser KillerRed (KR) it is now possible
Isabel Formella, Adam J. Svahn, Rowan A.W. Radford, Emily K. Don, Nicholas J. Cole, Alison Hogan, Albert Lee, Roger S. Chung, Marco Morsch   +8 more
doaj   +1 more source

Tracheostomy in motor neurone disease

Practical Neurology, 2019
Tracheostomy-associated ventilation for the respiratory insufficiency caused by amyotrophic lateral sclerosis (motor neurone disease (MND)) is a complex issue with practical, ethical and economic dimensions. This article considers the current prevalence of tracheostomy in MND, the evidence for its benefit both for survival and quality of life, and the ...
Martin R Turner, Christina Faull, Christopher J McDermott, Annabel H Nickol, Jonathan Palmer, Kevin Talbot   +5 more
openaire   +3 more sources