Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a childhood motoneuron disease caused by mutations in the gene encoding for IGHMBP2, an ATPase/Helicase. Paralysis of the diaphragm is an early and prominent clinical sign resulting both from denervation and myopathy. In skeletal m...

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Bibliographic Details
Main Authors: Frank Krieger, Nicole Elflein, Rocio Ruiz, Joana Guerra, Antonio L. Serrano, Esther Asan, Lucia Tabares, Sibylle Jablonka
Format: Article
Language:English
Published: Elsevier 2013-06-01
Series:Neurobiology of Disease
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112004020