Results 31 to 40 of about 2,351,931 (407)
Electrophysiological studies in healthy subjects involving caffeine [PDF]
, 2010 Copyright ©2012 IOS Press All rights reserved.We review the electrophysiological studies concerning the effects of caffeine on muscle, lower and upper motor neuron excitability and cognition.
Carvalho, Mamede +2 more
core +1 more source
The era of cryptic exons: implications for ALS-FTD
Molecular Neurodegeneration, 2023 TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta +3 more
doaj +1 more source
Proceedings of the National Academy of Sciences of the United States of America, 2019 Significance Amyotrophic lateral sclerosis (ALS) is a devastating, motor neuron degenerative disease without any cure to date. About 95% of ALS patients feature abnormalities in the RNA/DNA binding protein TDP-43, involving its nucleus-cytoplasmic ...
J. Mitra +19 more
semanticscholar +1 more source
Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease [PDF]
, 2018 Human Ag R (HuR) is an RNA binding protein in the ELAVL protein family. To study the neuron-specific function of HuR, we generated inducible, neuron-specific HuR-deficient mice of both sexes.
Bai, Ying +10 more
core +1 more source
Nature Neuroscience, 2018 Though motor neurons selectively degenerate in amyotrophic lateral sclerosis, other cell types are likely involved in this disease. We recently generated rNLS8 mice in which human TDP-43 (hTDP-43) pathology could be reversibly induced in neurons and ...
Krista J. Spiller +10 more
semanticscholar +1 more source
Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]
, 2019 Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core +1 more source
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 +5 more
doaj +1 more source
BMJ, 2011 Diane Sackett experienced the first symptoms of motor neurone disease in 2004, and died in September 2009. Diane’s husband, Brian, was her main carer.
Mohamed Sakel, Brian Sackett
openaire +2 more sources
Cells, 2021 Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson +4 more
doaj +1 more source
Postgraduate Medical Journal, 2002 Abstract Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a neurodegenerative disorder of unknown aetiology. Progressive motor weakness and bulbar dysfunction lead to premature death, usually from respiratory failure. Confirming the diagnosis may initially be difficult until the full clinical features are manifest.
openaire +4 more sources