Title: | Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization |
Journal : | Journal of neurochemistry, 104, 6 |
Authors: | Goryunov D ; Nightingale A ; Bornfleth L ; Leung C ; Liem RKH |
Material Type: | Article |
Publication Date: | 2008 |
Size: | p. 1536-1552 |
Languages: | English |
Keywords : | cell cultures ; Charcot-Marie-Tooth disease ; genetic mutations ; immunohistochemistry ; molecular genetics ; MTMR2 gene ; muscle biopsies ; myelin ; myotubularin ; NEFL gene ; neurofilaments ; onion bulb formations ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17973976&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |