Associated Papers
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D et al.
Human Molecular Genetics, 2016
27378690 (PubMed )
Supplement: supp_ddw204_suppl_data.zip › HMG-2016-D-00504-R1_Supplementary_Table_1.pdf
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Stampfer M et al.
Orphanet Journal of Rare Diseases, 2013
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