A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

De novo PMP2mutations in families with type 1 Charcot–Marie–Tooth disease

(2016) William W. Motley et al.   BRAIN

Correcting mitochondrial fusion by manipulating mitofusin conformations

(2016) Antonietta Franco et al.   NATURE

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

(2015) Michael Gonzalez et al.   HUMAN MUTATION

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A

(2009) Romain Cartoni et al.   EXPERIMENTAL NEUROLOGY