scholarly journals Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

2004 ◽  
Vol 13 (19) ◽  
pp. 2207-2220 ◽  
Author(s):  
R. Perez-Olle
Keyword(s):  
Cell Culture ◽  
Gene Mutations ◽  
Phenotypic Analysis ◽  
Neurofilament Light ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Culture Models ◽  
Cell Culture Models ◽  
Tooth Disease

Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

2010 ◽  
Vol 52 (2) ◽  
pp. 177-183 ◽  
Author(s):  
Hanna Drac ◽  
Dagmara Kabzińska ◽  
Izabela Moszyńska ◽  
Halina Strugalska-Cynowska ◽  
Irena Hausmanowa-Petrusewicz ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

scholarly journals Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

2008 ◽  
Vol 53 (6) ◽  
pp. 529-533 ◽  
Author(s):  
Paola Mandich ◽  
Marina Grandis ◽  
Alessandro Geroldi ◽  
Massimo Acquaviva ◽  
Alessandra Varese ◽  
...  
Keyword(s):  
Gap Junction ◽  
Gene Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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