TY  - GEN
AU  - Airoldi,Giovanni
AU  - Guidarelli,Andrea
AU  - Cantoni,Orazio
AU  - Panzeri,Chris
AU  - Vantaggiato,Chiara
AU  - Bonato,Sara
AU  - Grazia D'Angelo,Maria
AU  - Falcone,Sestina
AU  - De Palma,Clara
AU  - Tonelli,Alessandra
AU  - Crimella,Claudia
AU  - Bondioni,Sara
AU  - Bresolin,Nereo
AU  - Clementi,Emilio
AU  - Bassi,Maria Teresa
TI  - Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin
SN  - 1364-6753
PY  - 2010///0322
KW  - Adult
KW  - Apoptosis
KW  - Apraxia, Ideomotor
KW  - genetics
KW  - Ataxia
KW  - Camptothecin
KW  - pharmacology
KW  - DNA Damage
KW  - DNA Helicases
KW  - Eye Diseases
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Hydrogen Peroxide
KW  - Male
KW  - Middle Aged
KW  - Mitomycin
KW  - Multifunctional Enzymes
KW  - Mutation
KW  - Pedigree
KW  - RNA Helicases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-009-0206-0
ER  -