PubMed:10078749 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10078749-0#0#4#gene2643","span":{"begin":0,"end":4},"obj":"gene2643"},{"id":"10078749-0#58#66#diseaseC0013421","span":{"begin":58,"end":66},"obj":"diseaseC0013421"},{"id":"10078749-0#58#66#diseaseC0393593","span":{"begin":58,"end":66},"obj":"diseaseC0393593"}],"relations":[{"id":"0#4#gene264358#66#diseaseC0013421","pred":"associated_with","subj":"10078749-0#0#4#gene2643","obj":"10078749-0#58#66#diseaseC0013421"},{"id":"0#4#gene264358#66#diseaseC0393593","pred":"associated_with","subj":"10078749-0#0#4#gene2643","obj":"10078749-0#58#66#diseaseC0393593"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":44,"end":66},"obj":"HP:0012048"},{"id":"AB1","span":{"begin":146,"end":168},"obj":"HP:0012048"},{"id":"AB2","span":{"begin":202,"end":210},"obj":"HP:0001332"},{"id":"AB3","span":{"begin":408,"end":416},"obj":"HP:0001332"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":44,"end":66},"obj":"ORDO:93958"},{"id":"AB1","span":{"begin":146,"end":168},"obj":"ORDO:93958"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":67},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":68,"end":211},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":212,"end":270},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":271,"end":417},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":67},"obj":"Sentence"},{"id":"T2","span":{"begin":68,"end":211},"obj":"Sentence"},{"id":"T3","span":{"begin":212,"end":270},"obj":"Sentence"},{"id":"T4","span":{"begin":271,"end":417},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":44,"end":66},"obj":"SpecificDisease:D008538"},{"id":"T2","span":{"begin":146,"end":168},"obj":"SpecificDisease:D008538"},{"id":"T3","span":{"begin":202,"end":210},"obj":"DiseaseClass:D004421"},{"id":"T4","span":{"begin":359,"end":367},"obj":"Modifier:D004421"},{"id":"T5","span":{"begin":392,"end":416},"obj":"SpecificDisease:C538007"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":111,"end":115},"obj":"gene:2643"},{"id":"T1","span":{"begin":146,"end":168},"obj":"disease:C2242577"},{"id":"T2","span":{"begin":111,"end":115},"obj":"gene:2643"},{"id":"T3","span":{"begin":202,"end":210},"obj":"disease:C0013421"},{"id":"T4","span":{"begin":111,"end":115},"obj":"gene:2643"},{"id":"T5","span":{"begin":202,"end":210},"obj":"disease:C0393593"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":146,"end":168},"obj":"HP_0012048"},{"id":"T2","span":{"begin":160,"end":168},"obj":"HP_0001332"},{"id":"T3","span":{"begin":202,"end":210},"obj":"HP_0001332"},{"id":"T4","span":{"begin":408,"end":416},"obj":"HP_0001332"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia."}