Condition: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
rs104894103 in
APTX gene and
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
PMID 12629250 2003 Phenotypic variability of aprataxin gene mutations.
PMID 11586300 2001 The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
PMID 14506070 2003 Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
PMID 21465257 2011 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
PMID 15790557 2005 Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
PMID 15699391 2005 Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
PMID 17242337 2007 Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
PMID 11176957 2001 Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
PMID 12196655 2002 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
PMID 11586299 2001 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
PMID 15852392 2005 Very late onset in ataxia oculomotor apraxia type I.
PMID 24362567 2014 Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.