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49,080 results
  • TPP2 mutation associated with sterile brain inflammation mimicking MS. [Journal Article]
  • NGNeurol Genet 2018; 4(6):e285
  • Reinthaler EM, Graf E, … Zimprich A
  • CONCLUSIONS: The homozygous TPP2 mutation (p.Cys28Gly) is likely responsible for the inflammation phenotype in this family. TPP2 is an ubiquitously expressed serine peptidase that removes tripeptides from the N-terminal end of longer peptides. TPP2 is involved in various biological processes including the destruction of major histocompatibility complex Class I epitopes. Recessive loss-of-function mutations in TPP2 were described in patients with Evans syndrome, a rare autoimmune disease affecting the hematopoietic system. Based on the gene expression results in our MS autopsy brain samples, we further suggest that TPP2 may play a broader role in the inflammatory process in MS.
  • Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. [Journal Article]
  • NGNeurol Genet 2018; 4(6):e282
  • Montes-Chinea NI, Guan Z, … Saporta MA
  • CONCLUSIONS: This report provides further confirmation of the role of SYT2 in human disease and corroborates the resultant unique clinical phenotype consistent with heriditary distal motor neuropathy. SYT2-related motor neuropathy is a rare disease but should be suspected in patients presenting with a combination of presynaptic NMJ dysfunction (resembling Lambert-Eaton myasthenic syndrome) and a predominantly motor neuropathy, especially in the context of a positive family history.
  • Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. [Journal Article]
  • NGNeurol Genet 2018; 4(6):e281
  • Vegas N, Cavallin M, … Bahi-Buisson N
  • CONCLUSIONS: These findings have implications for genetic counseling, providing evidence that N-terminal mutations and large deletions lead to more severe FOXG1 syndrome, although genotype-phenotype correlations are not necessarily straightforward in recurrent mutations. Together, these analyses support the view that FOXG1 syndrome is a specific disorder characterized by frontal pachygyria and delayed myelination in its most severe form and hypogenetic corpus callosum in its milder form.
  • Molecular pathogenesis of human CD59 deficiency. [Journal Article]
  • NGNeurol Genet 2018; 4(6):e280
  • Karbian N, Eshed-Eisenbach Y, … Mevorach D
  • CONCLUSIONS: All 4 mutants generate nonfunctional CD59, 2 are expressed as cell surface proteins that may function in non-MAC-related interactions and 2 are expressed only intracellularly. Distinct secretion of soluble CD59 may have also a role in disease pathogenesis.
  • Anti-inflammatory effects of dietary vitamin D3 in patients with multiple sclerosis. [Journal Article]
  • NGNeurol Genet 2018; 4(6):e278
  • Hashemi R, Morshedi M, … Rafie-Arefhosseini S
  • CONCLUSIONS: Although supplementation with vitamin D3 reduced the mRNA expression levels of IL-17A and IL-6, it increased the mRNA expression level of IL-10 in all groups. However, these effects were more considerable in the MSP group than in the other groups. Of interest, in a deficiency state of serum vitamin D3, IL-17A expression had a positive feedback effect on the expression of IL-6. Conversely, in the sufficient state, IL-10 expression had a negative feedback effect on the expression of IL-17A and IL-6.
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