Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

Brain and Development

Volumn 36, Issue 8, 2014, Pages 682-689

  Vantaggiato, Chiara ^a   Cantoni, Orazio ^b   Guidarelli, Andrea ^b   Romaniello, Romina ^a   Citterio, Andrea ^a   Arrigoni, Filippo ^a   Doneda, Chiara ^c   Castelli, Marianna ^a   Airoldi, Giovanni ^a   Bresolin, Nereo ^a,d   Borgatti, Renato ^a   Bassi, Maria Teresa ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF URBINO   (Italy)

^c V BUZZI CHILDREN S HOSPITAL   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

AOA2; DNA damage; Hypersensitivity; SETX

Indexed keywords

PROTEIN DERIVATIVE; SETX PROTEIN; UNCLASSIFIED DRUG; OXIDIZING AGENT; RNA HELICASE; SETX PROTEIN, HUMAN;

APRAXIA; ARTICLE; ATAXIA; DNA DAMAGE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPERSENSITIVITY; MISSENSE MUTATION; MOTOR NEUROPATHY; NEUROPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; OXIDATIVE STRESS; PHENOTYPE; PSYCHOMOTOR DEVELOPMENT; CASE REPORT; CELL COUNT; CELL CULTURE; CEREBELLAR ATAXIA; COMPLICATION; DRUG EFFECTS; FEMALE; GENETICS; IDEOMOTOR APRAXIA; OPTIC NERVE DISEASE; PATHOLOGY; PRESCHOOL CHILD; TOXICITY;

APRAXIA, IDEOMOTOR; CELL COUNT; CELLS, CULTURED; CEREBELLAR ATAXIA; CHILD, PRESCHOOL; DNA DAMAGE; FEMALE; HUMANS; MUTATION, MISSENSE; OPTIC NERVE DISEASES; OXIDANTS; RNA HELICASES;

EID: 84904514866     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.10.003     Document Type: Article

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