|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
|
24362567 |
2014 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Very late onset in ataxia oculomotor apraxia type I.
|
15852392 |
2005 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
|
15699391 |
2005 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
|
14506070 |
2003 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability of aprataxin gene mutations.
|
12629250 |
2003 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
|
12196655 |
2002 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
|
11586300 |
2001 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
|
11586299 |
2001 |
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Oculomotor apraxia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.
|
21486904 |
2011 |
|
Hypoalbuminemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.
|
21486904 |
2011 |
|
Apraxia, oculomotor, Cogan type
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.
|
21486904 |
2011 |