TY  - JOUR
AU  - Grandi, Federica
AU  - Cipriani, Silvia
AU  - Alberizzi, Valeria
AU  - Di Guardo, Roberta
AU  - Chicanne, Gaetan
AU  - Sawade, Linda
AU  - Bianchi, Francesca
AU  - Del Carro, Ubaldo
AU  - De Curtis, Ivan
AU  - Pareyson, Davide
AU  - Parman, Yesim
AU  - Schenone, Angelo
AU  - Haucke, Volker
AU  - Payrastre, Bernard
AU  - Bolino, Alessandra
AU  - Guerrero Valero, Marta
PY  - 2021
DO  - 10.1073/pnas.2009469118
UR  - https://hdl.handle.net/20.500.14352/133163
T2  - Proceedings of the National Academy of Sciences (PNAS)
AB  - Charcot-Marie-Tooth type 4B1 (CMT4B1) is a severe autosomal recessive demyelinating neuropathy with childhood onset, caused by loss-of-function mutations in the myotubularin-related 2 (MTMR2) gene. MTMR2 is a ubiquitously expressed catalytically...
LA  - eng
M2  - e2009469118
PB  - National Academy of Sciences (PNAS)
TI  - Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
TY  - journal article
VL  - 118
ER  -