PubMed:1348851 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":102},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":103,"end":278},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":279,"end":368},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":369,"end":492},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":102},"obj":"Sentence"},{"id":"T2","span":{"begin":103,"end":278},"obj":"Sentence"},{"id":"T3","span":{"begin":279,"end":368},"obj":"Sentence"},{"id":"T4","span":{"begin":369,"end":492},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1348851-1#116#148#geners74315401","span":{"begin":219,"end":251},"obj":"geners74315401"},{"id":"1348851-1#48#87#diseaseC0017495","span":{"begin":151,"end":190},"obj":"diseaseC0017495"},{"id":"1348851-1#89#92#diseaseC0017495","span":{"begin":192,"end":195},"obj":"diseaseC0017495"}],"relations":[{"id":"116#148#geners7431540148#87#diseaseC0017495","pred":"associated_with","subj":"1348851-1#116#148#geners74315401","obj":"1348851-1#48#87#diseaseC0017495"},{"id":"116#148#geners7431540189#92#diseaseC0017495","pred":"associated_with","subj":"1348851-1#116#148#geners74315401","obj":"1348851-1#89#92#diseaseC0017495"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1348851-0#0#13#gene5621","span":{"begin":0,"end":13},"obj":"gene5621"},{"id":"1348851-0#62#101#diseaseC0017495","span":{"begin":62,"end":101},"obj":"diseaseC0017495"}],"relations":[{"id":"0#13#gene562162#101#diseaseC0017495","pred":"associated_with","subj":"1348851-0#0#13#gene5621","obj":"1348851-0#62#101#diseaseC0017495"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":485,"end":491},"obj":"HP:0001251"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":151,"end":190},"obj":"ORDO:356"},{"id":"TI1","span":{"begin":62,"end":101},"obj":"ORDO:356"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":13},"obj":"gene:5621"},{"id":"T1","span":{"begin":62,"end":101},"obj":"disease:C0017495"},{"id":"T2","span":{"begin":259,"end":272},"obj":"gene:5621"},{"id":"T3","span":{"begin":151,"end":190},"obj":"disease:C0017495"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.\nWe present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia."}