Results 1 to 10 of about 378,998 (299)
Neural Regeneration Research, 2021 Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli +2 more
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Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]
Анналы клинической и экспериментальной неврологии, 2023 5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
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The Lancet, 2008 Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation.
Mitchell R, Lunn, Ching H, Wang
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The social-economic burden of spinal muscular atrophy in Russia
Фармакоэкономика, 2021 Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin +7 more
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PROGRESSIVE MUSCULAR ATROPHY (?) [PDF]
The Journal of Nervous and Mental Disease, 1899 n ...
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PROGRESSIVE MUSCULAR ATROPHY [PDF]
The Journal of Nervous and Mental Disease, 1920 n ...
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Medicina, 2023 Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina +11 more
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Effect of Spinal Muscular Atrophy Awareness Sessions on Premarital Clients' Willingness to Perform Comprehensive SMA Genetic Testing [PDF]
Egyptian Journal of Health CareBackground: Premarital counselling in healthcare has a positive reflection on health and wellbeing of future families and inurn the whole community because it makes premarital clients feel energized, empowered with sufficient knowledge.
Nany Mohamed Erfan +4 more
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BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3
İstanbul Tıp Fakültesi Dergisi, 2022 Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu +7 more
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PLoS ONE, 2022 BackgroundThe therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik +7 more
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