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  • Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    [作者:Deprez, L; Weckhuysen, S; Holmgren, P; Suls, A; Van Dyck, T; Goossens, D; Del-Favero, J; Jansen, A; Verhaert, K; Lagae, L; Jordanova, A; Van Coster, R; Yendle, S; Berkovic, SF; Scheffer, I; Ceulemans, B; De Jonghe, P,期刊:Neurology, 页码:1159-1165 , 文章类型: Article,,卷期:2010年75-13]
  • Objectives: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently been identified in Ohtahara syndrome, an epileptic encephalopathy with very early onset. In order to explore the phenot...
  • Motor activation in multiple system atrophy and Parkinson disease A PET study
    [作者:Payoux, P; Brefel-Courbon, C; Ory-Magne, F; Regragui, W; Thalamas, C; Balduyck, S; Durif, F; Azulay, JP; Tison, F; Blin, O; Esquerre, JP; Rascol, O,期刊:Neurology, 页码:1174-1180 , 文章类型: Article,,卷期:2010年75-13]
  • Background: Multiple system atrophy (MSA) is an atypical parkinsonian syndrome including cerebellar impairment and poor response to levodopa. We assessed right hand motor activation in patients with MSA before and after ...
  • Mutations in SACS cause atypical and late-onset forms of ARSACS
    [作者:Baets, J; Deconinck, T; Smets, K; Goossens, D; Van den Bergh, P; Dahan, K; Schmedding, E; Santens, P; Rasic, VM; Van Damme, P; Robberecht, W; De Meirleir, L; Michielsens, B; Del-Favero, J; Jordanova, A; De Jonghe, P,期刊:Neurology, 页码:1181-1188 , 文章类型: Article,,卷期:2010年75-13]
  • Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, ...
  • A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
    [作者:Kay, DM; Stevens, CF; Hamza, TH; Montimurro, JS; Zabetian, CP; Factor, SA; Samii, A; Griffith, A; Roberts, JW; Molho, ES; Higgins, DS; Gancher, S; Moses, L; Zareparsi, S; Poorkaj, P; Bird, T; Nutt, J; Schellenberg, GD; Payami, H,期刊:Neurology, 页码:1189-1194 , 文章类型: Article,,卷期:2010年75-13]
  • Objectives: To perform a comprehensive population genetic study of PARK2. PARK2 mutations are associated with juvenile parkinsonism, Alzheimer disease, cancer, leprosy, and diabetes mellitus, yet ironically, there has be...