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FINELLI , Mattéa J

Last name: FINELLI

First name: Mattéa J

2018 (v1)

Publication

Metadata-only

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Finelli, Mattéa J Aprile, Davide Castroflorio, Enrico

Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) to non-syndromic hearing loss. TBC1D24 has been...

Uploaded on: April 14, 2023