Výsledky vyhledávání - "Sphinlopidomic"

Targeting lipids in CLN8-associated NCL diseases: structural and functional interaction of CLN8 with vesicle-associated membrane protein-associated protein A (VAPA), and genotype-phenotype correlations. II Report

Autor: Salvatore Papasergi, Patrizia Saladino, Rosaria Tinnirello, Cesare Cernigliaro, Simona Prioni, Sara Grassi, Laura Mauri, Paola Giussani, Alessandro Prinetti, Patrizia Guarneri

Publikováno v: Document ID: 81234, 2019

The neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive diseases with progressive dementia, motor disturbance, epilepsy, visual loss and early death, affecting mainly children but also adults. Mutations in 13 distinct genes cause NCLs with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::14cfcf335eaee2f0f9cccee9b97c22b7
https://publications.cnr.it/doc/445676

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