Results 11 to 20 of about 247,506 (355)
DeckerMed Neurology, 2022 The motor neuron diseases (MNDs) are a family of diseases commonly categorized by their propensity to affect upper or lower motor neurons and by their mode of inheritance. The chapter provides some content on infectious MNDs caused by viral infections affecting the motor neurons in the anterior horn of the spinal cord. However, the chapter devotes most
Elena Ratti +2 more
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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
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Postgraduate Medical Journal, 1962 THE story of motor neurone disease goes back more than a hundred years, to the latter half of the igth century, and the days of the great clinical neurologists of France. Of the many famous names linked to this story three are pre-eminent: Charcot-physician and neuropathologist, and great teacher, who became even more renowned for his studies of ...
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Unsolicited written narratives as a methodological genre in terminal illness: challenges and limitations [PDF]
, 2011 Stories about illness have proven invaluable in helping health professionals understand illness experiences. Such narratives have traditionally been solicited by researchers through interviews and the collection of personal writings, including diaries ...
Bazeley P. +6 more
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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.
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Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy
Cell Reports, 2017 The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons.
Christian M. Simon +10 more
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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
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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
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Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector [PDF]
, 2018 Human pluripotent stem cells (PSCs) are widely used for in vitro disease modeling. One of the challenges in the field is represented by the ability of converting human PSCs into specific disease-relevant cell types.
De Santis, Riccardo +5 more
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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
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