Results 91 to 100 of about 5,744 (198)
The Many Faces of Elongator in Neurodevelopment and Disease
Frontiers in Molecular Neuroscience, 2016 Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons.
Marija Kojic, Brandon Wainwright
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Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]
, 2017 PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA +5 more
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The Use of Trichostatin A to Rescue TRKA+ Neurons in a Mouse Model of Familial Dysautonomia [PDF]
, 2017 Familial dysautonomia is a severe, recessive disease that devastates the peripheral nervous system, culminating in death of most patients by age 40.
Buksch, Richard
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Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation [PDF]
, 2015 Background: We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA).
A Abeliovich +83 more
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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
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Disease Models & Mechanisms, 2018 Familial dysautonomia (FD) is an autosomal recessive disorder marked by developmental and progressive neuropathies. It is caused by an intronic point-mutation in the IKBKAP/ELP1 gene, which encodes the inhibitor of κB kinase complex-associated protein ...
Yumi Ueki +2 more
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IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
The Application of Clinical Genetics, 2017 Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders ...
Rubin BY, Anderson SL
doaj
Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality? [PDF]
, 2011 Motor neuron diseases (MND) such as amyotrophic lateral sclerosis and spinal muscular atrophy are devastating, progressive and ultimately fatal diseases for which there are no effective treatments. Recent evidence from systematic studies of animal models
Amabile +72 more
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An unusual traumatic ulceration of the tongue [PDF]
, 2012 No ...
CAMPISI, Giuseppina +2 more
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