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  • FLNA genomic rearrangements cause periventricular nodular heterotopia
    [作者:Clapham, KR; Yu, TW; Ganesh, VS; Barry, B; Chan, Y; Mei, D; Parrini, E; Funalot, B; Dupuis, L; Nezarati, MM; du Souich, C; van Karnebeek, C; Guerrini, R; Walsh, CA,期刊:Neurology, 页码:269-278 , 文章类型: Article,,卷期:2012年78-4]
  • Objective: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. Methods: Screening of 35 patients from 33 pedigrees on an Affymetrix ...
  • Muscle phosphorylase kinase deficiency A neutral metabolic variant or a disease?
    [作者:Preisler, N; Orngreen, MC; Echaniz-Laguna, A; Laforet, P; Lonsdorfer-Wolf, E; Doutreleau, S; Geny, B; Akman, HO; DiMauro, S; Vissing, J,期刊:Neurology, 页码:265-268 , 文章类型: Article,,卷期:2012年78-4]
  • Objective: To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). Methods: Patient 1 (39 yea...
  • Cerebral hemodynamics and cognitive impairment Baseline data from the RECON trial
    [作者:Marshall, RS; Festa, JR; Cheung, YK; Chen, R; Pavol, MA; Derdeyn, CP; Clarke, WR; Videen, TO; Grubb, RL; Adams, HP; Powers, WJ; Lazar, RM,期刊:Neurology, 页码:250-255 , 文章类型: Article,,卷期:2012年78-4]
  • Objective: To determine whether unihemispheral hemodynamic failure is independently associated with cognitive impairment among participants in the National Institute of Neurological Disorders and Stroke-sponsored, multic...
  • Nutrient biomarker patterns, cognitive function, and MRI measures of brain aging
    [作者:Bowman, GL; Silbert, LC; Howieson, D; Dodge, HH; Traber, MG; Frei, B; Kaye, JA; Shannon, J; Quinn, JF,期刊:Neurology, 页码:241-249 , 文章类型: Article,,卷期:2012年78-4]
  • Objective: To examine the cross-sectional relationship between nutrient status and psychometric and imaging indices of brain health in dementia-free elders. Methods: Thirty plasma biomarkers of diet were assayed in the O...