A subgroup of spinocerebellar ataxias defective in DNA damage responses (2007)
Gueven, N., Chen, P., Nakamura, J., Becherel, O.J., Kijas, A.W., Grattan-Smith, P., ...
A subgroup of human autosomal recessive ataxias is also characterized by disturbances of eye movement or oculomotor apraxia. These include ataxia telangiectasia (AT); ataxia telangiectasia like...
Gueven, N., Becherel, O.J., Howe, O., Chen, P., Haince, J.F., Ouellet, M.E., ...
Several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (AOA) have been identified with the unifying feature of defective DNA damage recognition and/or...
Defective p53 response and apoptosis associated with an ataxia-telangiectasia-like phenotype (2006)
Gueven, N, Becherel, OJ, Birrell, G, Chen, P, DelSal, G, Carney, JP, ...
Ataxia-telangiectasia mutated (ATM), the protein defective in ataxia-telangiectasia, plays a central role in DNA damage response and signaling to cell cycle checkpoints. We describe here a cell line...
PEHO and PEHO-like syndromes: Report of five Australian cases (2003)
Field, M. J., Grattan-Smith, P., Piper, S. M., Thompson, E. M., Haan, E. A., Edwards, M., ...
PEHO and PEHO-like syndromes: Report of five Australian cases (2003)
Field, M. J., Grattan-Smith, P., Piper, S. M., Thompson, E. M., Haan, E. A., Edwards, M., ...
Clinical features of conversion disorder.
Grattan-Smith, P, Fairley, M, Procopis, P
This study reviewed the case notes of 52 children diagnosed as suffering from hysterical conversion during admission to a paediatric teaching hospital over a 10 year period. The disorder was rare...
Roseola infantum and other syndromes associated with acute HHV6 infection.
Irving, W L, Chang, J, Raymond, D R, Dunstan, R, Grattan-Smith, P, Cunningham, A L
Eight cases of acute human herpesvirus type 6 (HHV6) infection in infants were diagnosed serologically by the demonstration of IgM anti-HHV6 (8/8) and a significant change in total anti-HHV6 antibody...