Results 21 to 30 of about 247,506 (355)

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

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
SummaryMutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Battle, Boillée, Bosco, Coovert, Da Cruz, Das, DeJesus-Hernandez, Dormann, Fallini, Fallini, Gertz, Gitcho, Gubitz, Kabashi, Kabashi, Kariya, Kim, Kwiatkowski, Lefebvre, Ling, Liu, Liu-Yesucevitz, Renton, Sephton, Shan, Sreedharan, Valdmanis, Vance, Waibel, Wang, Yong   +30 more
core   +2 more sources

A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency

Cell Reports, 2016
In spinal muscular atrophy, a neurodegenerative disease caused by ubiquitous deficiency in the survival motor neuron (SMN) protein, sensory-motor synaptic dysfunction and increased excitability precede motor neuron (MN) loss.
Christian M. Simon, Anna M. Janas, Francesco Lotti, Juan Carlos Tapia, Livio Pellizzoni, George Z. Mentis   +5 more
doaj   +1 more source

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]

, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
A Brockington, A Kaplan, A Neve, AH Bhat, AM Blokhuis, Anna A. L. Motyl, B Schrank, B Wirth, C Cifuentes-Diaz, C Fallini, C Fallini, C Fallini, Catherina G. Becker, CC Xu, CL Lorson, D Frey, D Zala, Derek Thomson, DG Nicholls, E Mercuri, E Somers, E Somers, EA Schon, EJ Groen, EJ Groen, Ewout J. N. Groen, FR Jornayvaz, G Acsadi, G Hamilton, G Le Masson, Gregory A. Cox, H Flanagan-Steet, Hannah K. Shorrock, HM Hsieh-Li, J Giacomotto, J Hegedus, J. Robin Highley, JE Taylor, JJ Harris, JM Dale, JM Flanagan, JN Sleigh, K Hasegawa, K See, KC Kanning, KJ Spiller, KK Ling, KK Ling, L Comley, L Kong, Laura C. Graham, LM Murray, LM Murray, M Dimitriadi, M Riessland, M Ripolone, M Westerfield, ML McWhorter, N Miller, N Noel, Nicholas M. Morton, P Verstreken, Paul R. Heath, Penelope J. Boyd, Q Cai, Q Liu, R Martinez-Hernandez, R Tejero, RA Powis, RA Powis, Rachael A. Powis, Roderick N. Carter, S Hosseinibarkooie, S Jang, S Kariya, S Lefebvre, S Massenet, S Saxena, S Saxena, SL Eaton, Sophie R. Thomson, SR Thomson, T Hao le, T Uetsuki, T Voigt, Thomas Becker, Thomas H. Gillingwater, Thomas M. Wishart, TM Wishart, TW Tefera, U Fischer, UR Monani, UR Monani, V Chavan, V Link, V Luzzi, W Rossoll, Wen-Yo Tu, X Chen, Y Morisaki   +99 more
core   +5 more sources

Quo vadis motor neuron disease? [PDF]

, 2016
Motor neuron disease (MND), also known as amyotrophic lateral sclerosis, is a relentlessly progressive neurodegenerative condition that is invariably fatal, usually within 3 to 5 years of diagnosis. The aetio-pathogenesis of MND remains unresolved and no
Balendra, R, Patani, R
core   +1 more source

Tracheostomy in motor neurone disease [PDF]

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

Ca2+-activated K+ channels modulate microglia affecting motor neuron survivalin hSOD1G93A mice [PDF]

, 2018
Recent studies described a critical role for microglia in amyotrophic lateral sclerosis (ALS), where these CNS-resident immune cells participate in the establishment of an inflammatory microenvironment that contributes to motor neuron degeneration ...
Antonangeli, Fabrizio, Carbonari, Laura, Cocozza, Germana, D'Alessandro, Giuseppina, di Castro, Maria Amalia, Garofalo, Stefano, Grassi, Francesca, Grimaldi, Alfonso, Limatola, Cristina, Madonna, Michele, Mainiero, Fabrizio, Porzia, Alessandra, Santoni, Angela, Wulff, Heike   +13 more
core   +2 more sources

Motor neurone disease [PDF]

BMJ, 1996
In patients with motor neurone disease, progressively worsening breathlessness often coincides with deteriorating bulbar function, and this combination may lead to difficulties in swallowing and coughing and a risk of aspiration. Occasionally, chest infections cause life threatening respiratory failure.
openaire   +3 more sources

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases [PDF]

, 2015
Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in
Oliveira, Acary Souza Bulle, Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de   +2 more
core   +3 more sources