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(Annals of Neurology[TA])
10,995 results
  • Mutations in SCN3A cause early infantile epileptic encephalopathy. [Journal Article]
  • ANAnn Neurol 2018 Feb 21
  • Zaman T, Helbig I, … Goldberg EM
  • CONCLUSIONS: These findings establish SCN3A as a new gene for infantile epileptic encephalopathy and suggest a potential pharmacologic intervention. These findings also reinforce the role of Nav1.3 as an important regulator of neuronal excitability in the developing brain while providing additional insight into mechanisms of slow inactivation of Nav1.3. This article is protected by copyright. All rights reserved.
  • Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia. [Journal Article]
  • ANAnn Neurol 2018 Feb 20
  • Avansini SH, Torres FR, … Lopes-Cendes I
  • CONCLUSIONS: Our findings suggest a new molecular mechanism, in which NEUROG2 has a pivotal and central role in the pathogenesis of FCD type II. In this way, we found that the downregulation of hsa-miR-34a leads to upregulation of NEUROG2, and consequently to overexpression of the RND2 gene. These findings indicate that a faulty coupling in neuronal differentiation and migration mechanisms may explain the presence of aberrant cells and complete dyslamination in FCD type II. This article is protected by copyright. All rights reserved.
  • [18F]AV-1451 tau-PET and primary progressive aphasia. [Journal Article]
  • ANAnn Neurol 2018 Feb 16
  • Josephs KA, Martin PR, … Whitwell JL
  • CONCLUSIONS: [18F]AV-1451binding characteristics differ across the PPA variants, and were excellent at distinguishing between the variants. [18F]AV-1451binding characteristics were as good or better than other brain imaging modalities utilized in clinical practice, suggesting that [18F]AV-1451 may have clinical diagnostic utility in PPA. This article is protected by copyright. All rights reserved.
  • Predicting Recovery in Acute Post-stroke Aphasia. [Journal Article]
  • ANAnn Neurol 2018 Feb 16
  • Hillis AE, Beh YY, … Fridriksson J
  • CONCLUSIONS: Lesion load in left pSTG and SLF/AF at onset predicts later naming performance. Although based on a small number of patients, our preliminary results suggest outcome might be modulated by SSRIs, but these associations need to be confirmed in a larger randomized controlled trial. This article is protected by copyright. All rights reserved.
  • Diabetic neuropathy differs between type 1 and type 2 diabetes Insights from magnetic resonance neurography. [Journal Article]
  • ANAnn Neurol 2018 Feb 14
  • Jende JME, Groener JB, … Kurz FT
  • CONCLUSIONS: The predominant type of nerve lesions in DPN differs between T1D and T2D. Correlations found between lesion type and serological parameters indicate that predominant nerve lesions in T1D are associated with poor glycemic control and loss of nerve conduction, whereas predominant lesions in T2D are associated with changes in lipid metabolism. These findings may be helpful for future studies on the underlying pathophysiological pathways and possible treatments for DPN in T1D and T2D. This article is protected by copyright. All rights reserved.
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