TY  - GEN
AU  - Manganelli,Fiore
AU  - Parisi,Silvia
AU  - Nolano,Maria
AU  - Tao,Feifei
AU  - Paladino,Simona
AU  - Pisciotta,Chiara
AU  - Tozza,Stefano
AU  - Nesti,Claudia
AU  - Rebelo,Adriana P
AU  - Provitera,Vincenzo
AU  - Santorelli,Filippo M
AU  - Shy,Michael E
AU  - Russo,Tommaso
AU  - Zuchner,Stephan
AU  - Santoro,Lucio
TI  - Novel mutations in 
SN  - 1526-632X
PY  - 2017///0605
KW  - Adult
KW  - Dystonin
KW  - genetics
KW  - Hereditary Sensory and Autonomic Neuropathies
KW  - Heterozygote
KW  - Humans
KW  - Induced Pluripotent Stem Cells
KW  - pathology
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Neurons
KW  - RNA, Messenger
KW  - metabolism
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1212/WNL.0000000000003992
ER  -