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  • LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
    [作者:Fanciulli, M; Santulli, L; Errichiello, L; Barozzi, C; Tomasi, L; Rigon, L; Cubeddu, T; de Falco, A; Rampazzo, A; Michelucci, R; Uzzau, S; Striano, S; de Falco, FA; Striano, P; Nobile, C,期刊:Neurology, 页码:1299-1303 , 文章类型: Article,,卷期:2012年78-17]
  • Objectives: To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test. Methods: All participants were personally interviewed and u...
  • MRI as diagnostic tool in early-onset peroxisomal disorders
    [作者:van der Knaap, MS; Wassmer, E; Wolf, NI; Ferreira, P; Topcu, M; Wanders, RJA; Waterham, HR; Ferdinandusse, S,期刊:Neurology, 页码:1304-1308 , 文章类型: Article,,卷期:2012年78-17]
  • Objective: Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing abnormal...