Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion> ?p ?o ?g. }
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- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion type Assertion NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_head.
- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion description "[We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected on the basis of their phenotype (spasticity of the lower limbs with cerebellar signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) (n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the national reference centre in a diagnostic setting (n = 98); and the index case of a four-generation family with autosomal dominant optic neuropathy but no spasticity linked to the SPG7 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_provenance.
- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion evidence source_evidence_literature NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_provenance.
- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion SIO_000772 23065789 NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_provenance.
- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion wasDerivedFrom befree-2016 NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_provenance.
- NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_assertion wasGeneratedBy ECO_0000203 NP1021097.RA9r0iLD3uYT9Nzt-DjdBsMuDAdUVhTqOBSrHuHgxSqSw130_provenance.