… arising in cells, with many tens of thousands induced in each cell each day. SSBs arise not
… proteins involved in SSB repair (SSBR) are mutated, and which are typified by hereditary …

… the double mutant and are potentially important for the ataxic … Mutations in the APTX gene,
encoding a phosphodiesterase … ataxia in humans called Ataxia with oculomotor apraxia type …

… bi-allelic mutations in INPP5E. Additional two patients showed early onset IRD with limited
… nor CNVs in any of the Joubert or ataxia with oculomotor apraxia (OMIM# 208920, APTX) 36…

… Ataxia with oculomotor apraxia type 1 (AOA1) is a … AOA1 is caused by an inactivation
mutation in the APTX gene. … All of these processes can cause misplacement of nuclear and …

… However, the oculomotor apraxia presented first in the … oxidative SSBs and TOP1-induced
SSBs is defective should … cerebellar ataxia resulting from unrepaired TOP1-induced SSBs …

… MYO5B mutations are also identified in a subset of patients with predominant early-onset …
Conclusion: Whole exome sequencing can identify treatable causes of ataxia and should …

… ), while MRE11 is mutated in ataxia-telangiectasia-like disorder (… Ataxia–oculomotor apraxia
(AOA) is a phenotype related to … As a possible cause of cerebellar ataxia might be related to …

… 1997 as a cause of autosomal dominant early-onset generalized … In 2007, mutations in TAF1
were identified as the cause of X-… onset of ataxia, oculomotor apraxia, severe primary motor …

… phosphorylated form of ataxia telangiectasia mutated (pATM). … Ataxia-oculomotor apraxia-1
(AOA1) and spinocerebellar … defects in DSB repair genes due to genetic mutations are also …

… phosphatase domain causative for severe early onset of PM. We … with partial lens luxation
due to dysplasia of the iris and … muscular hypotonia, ataxia, and oculomotor apraxia. He had …