Results 31 to 40 of about 6,382,817 (308)

Amyotrophic lateral sclerosis – a motor neuron disease. Case report [PDF]

, 2015
Amyotrophic lateral sclerosis, also known as Charcot’s disease and motor neuron disease, is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure.
Maja Rubinowicz-Zasada, Jarosław Pasek, Orczyk, Aneta, Pasek, Jarosław, Rubinowicz-Zasada, Maja, Marek Orczyk, Aneta Orczyk, Orczyk, Marek   +7 more
core   +1 more source

Cardiomyopathy in motor neuron diseases [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2006
Myocardial involvement in motor neuron diseases (MND) is an uncommon feature. In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the hereditary spastic paraplegias (HSP) comparable manifestations are unknown.
H-J, Gdynia, A, Kurt, S, Endruhn, A C, Ludolph, A-D, Sperfeld   +4 more
openaire   +2 more sources

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability [PDF]

, 2015
This work has been supported by: Motor Neurone Disease Association (G.B.M., S.C. and C.E.S.); Euan MacDonald Centre (G.B.M. and S.C.); European Research Council (L.V.); Cambridge Hospitals National Institute for Health Research Biomedical Research Center
Foster, Joshua D., Shaw, Christopher E., Cleary, Elaine M., Cleary, Elaine M, Foster, Joshua D, Miles, Gareth B, Devlin, Anna-Claire, Geti, Imbisaat, Cleary, Elaine Marie, Miles, Gareth B., Borooah, Shyamanga, Devlin, Anna Claire, Shaw, Christopher E, Vallier, Ludovic, Burr, Karen, Chandran, Siddharthan, Miles, Gareth B; id_orcid   +16 more
core   +1 more source

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

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

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

The management of motor neurone disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
The management of motor neurone disease (MND) has evolved rapidly over the last two decades. Although still incurable, MND is not untreatable. From an attitude of nihilism, treatments and interventions that prolong survival have been developed. These treatments do not, however, arrest progression or reverse weakness.
Leigh, P N, Abrahams, S, Al-Chalabi, A, Ampong, M A, Goldstein, L H, Johnson, J, Lyall, R, Moxham, J, Mustfa, N, Rio, A, Shaw, C, Willey, E   +11 more
openaire   +2 more sources

Review: Microglia in motor neuron disease [PDF]

, 2021
Motor Neuron Disease (MND) is a fatal neurodegenerative condition, which is characterized by the selective loss of the upper and lower motor neurons. At the sites of motor neuron injury, accumulation of activated microglia, the primary immune cells of ...
Highley, J.R., Heath, P.R., J. Cooper‐Knock, D. Boche, J. R. Highley, Cooper‐Knock, J., Boche, D., Ashford, B.A., Simpson, J.E., J. E. Simpson, B. A. Ashford, P. R. Heath   +11 more
core   +1 more source

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

Cell Reports, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni   +7 more
doaj   +1 more source