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Title
Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I
Authors
Keywords
-
Journal
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Volume 74, Issue 1, Pages 15-24
Publisher
Oxford University Press (OUP)
Online
2014-12-03
DOI
10.1097/nen.0000000000000144
References
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Related references
Note: Only part of the references are listed.- Spinal muscular atrophy: Development and implementation of potential treatments
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- Spinal Muscular Atrophy: New and Emerging Insights from Model Mice
- (2010) Gyu-Hwan Park et al. Current Neurology and Neuroscience Reports
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