Results 31 to 40 of about 641,821 (189)
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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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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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 +10 more
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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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Spinal Muscular Atrophy With Myoclonic Epilepsy
, 2017 Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Faik BUDAK +3 more
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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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Medical needs and challenges for spinal muscular atrophy.
, 2022 Medical needs and challenges for spinal muscular atrophy.
Paola Díaz-Abós (9771712) +7 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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Prenatal anatomical and molecular changes in a mouse model of Spinal Muscular Atrophy: thesis movies
, 2021 Supplementary movies for the doctoral thesis 'Prenatal anatomical and molecular changes in a mouse model of Spinal Muscular Atrophy'. The movies illustrate the anatomical characterisation performed on embryos of a mouse model of Spinal Muscular Atrophy ...
Motyl, Anna
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