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Article

Loss of <i>ERLIN2</i> function leads to juvenile primary lateral sclerosis

9 May 2012

Abstract excerpt

OBJECTIVE: Primary lateral sclerosis (PLS) is a motor neuron disorder that exclusively affects upper motor neurons leading to their degeneration. Mutations in the ALS2 gene encoding the protein Alsin have been described previously in the juvenile form of the disease. In this study, we identify mutation of the ERLIN2 gene in juvenile PLS patients and describe an in vitro model for loss of ERLIN2 function. METHODS:...

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PMID: 23109145
DOI: 10.1002/ana.23641

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