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Nondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II. [PDF]
AACE Endocrinol DiabetesAguilera-Astudillo M +5 more
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The use of robotic arms for individuals with severe upper-limb disabilities. [PDF]
Neurol Res PractFortin-Bédard N +4 more
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Editorial: Special Issue "Genetic Newborn Screening". [PDF]
Genes (Basel)Nishio H, Awano H.
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Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience. [PDF]
Ann Indian Acad NeurolMohanlal S +8 more
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Nature Reviews Disease Primers, 2022
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few
Eugenio Mercuri +4 more
semanticscholar +3 more sources
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few
Eugenio Mercuri +4 more
semanticscholar +3 more sources
Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith +2 more
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Stephen A. Smith +2 more
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