Results 31 to 40 of about 293,569 (356)

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +3 more sources

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

Diagnosing motor neurone disease [PDF]

BMJ, 1996
Advanced motor neurone disease is easily recognised. Progressively worsening dysphagia and dysarthria, and widespread wasting and weakness of the limbs with hyperactive reflexes in a corresponding wasted myotome in the absence of other neurological signs are unmistakable features.
openaire   +2 more sources

Equine Motor Neuron Disease

Veterinary Clinics of North America: Equine Practice, 1997
This article reviews the subject of equine motor neuron disease, a neurodegenerative disease of horses. The authors discuss various topics, including epidemiology, pathophysiology, clinical signs, laboratory findings, diagnosis, and treatment.
T J, Divers, H O, Mohammed, J F, Cummings   +2 more
openaire   +2 more sources

MicroRNA profiling reveals marker of motor neuron disease in ALS models [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder marked by the loss of motor neurons (MNs) in the brain and spinal cord, leading to fatally debilitating weakness.
Amy J. Wegener, Chengran Yang, David H. Gutmann, David R. O'Brien, Erica D. Koval, Holly B. Kordasiewicz, Jean-Philippe Richard, Joseph D. Dougherty, Kathleen M. Schoch, Mariah L. Hoye, Nicholas J. Maragakis, Rebecca L. Miller, Tao Shen, Theodore S. Hyman, Timothy M. Miller, Tomonori Kunikata, Tracy Cole   +16 more
core   +2 more sources

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

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7

Molecular Therapy: Nucleic Acids, 2023
Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater   +8 more
doaj   +1 more source

Inflammation in ALS and SMA: Sorting out the good from the evil

Neurobiology of Disease, 2010
Indices of neuroinflammation are found in a variety of diseases of the CNS including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Dimitra Papadimitriou, Virginia Le Verche, Arnaud Jacquier, Burcin Ikiz, Serge Przedborski, Diane B. Re   +5 more
doaj   +1 more source

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

Nature Communications, 2016
The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma, Alexander K. Lyashchenko, Lei Lu, Sara Ebrahimi Nasrabady, Margot Elmaleh, Monica Mendelsohn, Adriana Nemes, Juan Carlos Tapia, George Z. Mentis, Neil A. Shneider   +9 more
doaj   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +4 more sources