IJU Case Reports, 2022 Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase +9 more
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Nusinersen for spinal muscular atrophy [PDF]
Therapeutic Advances in Neurological Disorders, 2018 Claudia D. Wurster, Albert C. Ludolph
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The SMN protein is a key regulator of nuclear architecture in differentiating neuroblastoma cells [PDF]
, 2009 The cell nucleus contains two closely related structures, Cajal bodies (CBs) and gems. CBs are the first site of accumulation of newly assembled splicing snRNPs (small nuclear ribonucleoproteins) following their import into the nucleus, before they form ...
Nicholas P. Kinnear +9 more
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A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Handschin, Christoph +2 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
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Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy [PDF]
, 2022 Nucleic acid therapeutics allow sequence-based targeting of disease genes, such as the genes involved in spinal muscular atrophy (SMA) pathogenesis. SMA is a neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1).
Winkelsas, Audrey
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Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]
, 2014 As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
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Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]
, 2014 Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
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The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]
, 2014 The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman +2 more
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Iranian Journal of Public Health, 2020 The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI +4 more
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