Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Spinocerebellar_ataxia_type-13> ?p ?o }
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- 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 wikiPageExternalLink br.fcgi?book=gene&part=sca13.
- Spinocerebellar_ataxia_type-13 wikiPageID "8065843".
- Spinocerebellar_ataxia_type-13 wikiPageLength "4306".
- Spinocerebellar_ataxia_type-13 wikiPageOutDegree "16".
- Spinocerebellar_ataxia_type-13 wikiPageRevisionID "584345072".
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Action_potential.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Ataxia.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Category:Channelopathy.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Category:Neurological_disorders.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Dominance_(genetics).
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Dysarthria.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Epilepsy.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Intellectual_disability.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink KCNC3.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Neuron.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Nystagmus.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Purkinje_cell.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Spinocerebellar_ataxia.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLink Voltage-gated_potassium_channel.
- Spinocerebellar_ataxia_type-13 wikiPageWikiLinkText "SCA13".
- Spinocerebellar_ataxia_type-13 wikiPageWikiLinkText "Spinocerebellar ataxia type-13".
- Spinocerebellar_ataxia_type-13 diseasesdb "12339".
- Spinocerebellar_ataxia_type-13 emedicinesubj "neuro".
- Spinocerebellar_ataxia_type-13 emedicinetopic "556".
- 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 wikiPageUsesTemplate Template:Channelopathy.
- Spinocerebellar_ataxia_type-13 wikiPageUsesTemplate Template:Infobox_Disease.
- Spinocerebellar_ataxia_type-13 wikiPageUsesTemplate Template:Reflist.
- Spinocerebellar_ataxia_type-13 subject Category:Channelopathy.
- Spinocerebellar_ataxia_type-13 subject Category:Neurological_disorders.
- Spinocerebellar_ataxia_type-13 hypernym Disorder.
- Spinocerebellar_ataxia_type-13 type Disease.
- Spinocerebellar_ataxia_type-13 type Channel.
- Spinocerebellar_ataxia_type-13 type Disorder.
- 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 sameAs Q2310947.
- 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 wasDerivedFrom Spinocerebellar_ataxia_type-13?oldid=584345072.
- Spinocerebellar_ataxia_type-13 isPrimaryTopicOf Spinocerebellar_ataxia_type-13.