Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Spinocerebellar_ataxia_type-13> ?p ?o. }
Showing items 1 to 34 of
34
with 100 items per page.
- Spinocerebellar_ataxia_type-13 abstract "Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics.".
- Spinocerebellar_ataxia_type-13 diseasesdb "12339".
- Spinocerebellar_ataxia_type-13 emedicineSubject "neuro".
- Spinocerebellar_ataxia_type-13 emedicineTopic "556".
- Spinocerebellar_ataxia_type-13 icd10 "G11.2".
- Spinocerebellar_ataxia_type-13 icd9 "334.9".
- Spinocerebellar_ataxia_type-13 omim "605259".
- Spinocerebellar_ataxia_type-13 wikiPageExternalLink br.fcgi?book=gene&part=sca13.
- Spinocerebellar_ataxia_type-13 wikiPageID "8065843".
- Spinocerebellar_ataxia_type-13 wikiPageRevisionID "584345072".
- Spinocerebellar_ataxia_type-13 diseasesdb "12339".
- Spinocerebellar_ataxia_type-13 emedicinesubj "neuro".
- Spinocerebellar_ataxia_type-13 emedicinetopic "556".
- Spinocerebellar_ataxia_type-13 hasPhotoCollection Spinocerebellar_ataxia_type-13.
- Spinocerebellar_ataxia_type-13 icd "334.9".
- Spinocerebellar_ataxia_type-13 icd "G11.2".
- Spinocerebellar_ataxia_type-13 name "Spinocerebellar ataxia type-13".
- Spinocerebellar_ataxia_type-13 omim "605259".
- Spinocerebellar_ataxia_type-13 wordnet_type synset-disease-noun-1.
- Spinocerebellar_ataxia_type-13 subject Category:Channelopathy.
- Spinocerebellar_ataxia_type-13 subject Category:Neurological_disorders.
- Spinocerebellar_ataxia_type-13 type Disease.
- Spinocerebellar_ataxia_type-13 type AilmentCondition.
- Spinocerebellar_ataxia_type-13 type Situation.
- Spinocerebellar_ataxia_type-13 comment "Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3.".
- Spinocerebellar_ataxia_type-13 label "Spinocerebellar ataxia type-13".
- Spinocerebellar_ataxia_type-13 label "Spinozerebelläre Ataxie Typ 13".
- Spinocerebellar_ataxia_type-13 sameAs Spinozerebelläre_Ataxie_Typ_13.
- Spinocerebellar_ataxia_type-13 sameAs m.026q69m.
- Spinocerebellar_ataxia_type-13 sameAs Q2310947.
- Spinocerebellar_ataxia_type-13 sameAs Q2310947.
- Spinocerebellar_ataxia_type-13 wasDerivedFrom Spinocerebellar_ataxia_type-13?oldid=584345072.
- Spinocerebellar_ataxia_type-13 isPrimaryTopicOf Spinocerebellar_ataxia_type-13.
- Spinocerebellar_ataxia_type-13 name "Spinocerebellar ataxia type-13".