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- W3205865670 abstract "Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare childhood autosomal recessive motor neuron disease, caused by IGHMBP2 gene mutations. The main hallmarks of the disease are diaphragmatic palsy and progressive distal muscular atrophy and paralysis. Currently, there is no treatment and very little data are available on the disease progression. We aim to determine the disease natural course and to define the most suitable functional outcome measures, in the perspective of a future clinical trial." @default.
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- W3205865670 date "2021-10-01" @default.
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- W3205865670 title "Natural history study of spinal muscular atrophy with respiratory distress type 1 (SMARD1) in a cohort of European patients" @default.
- W3205865670 doi "https://doi.org/10.1016/j.jns.2021.119388" @default.
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