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Sökning: WFRF:(Leigh P Nigel)

  • Resultat 11-15 av 15
  • Föregående 1[2]
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11.
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12.
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13.
  • Shatunov, Aleksey, et al. (författare)
  • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries : a genome-wide association study
  • 2010
  • Ingår i: Lancet Neurology. - 1474-4422 .- 1474-4465. ; 9:10, s. 986-994
  • Tidskriftsartikel (refereegranskat)abstract
    • We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene.
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14.
  • Turner, Martin R, et al. (författare)
  • Cortical involvement in four cases of primary lateral sclerosis using [(11)C]-flumazenil PET.
  • 2007
  • Ingår i: Journal of Neurology. - 0340-5354 .- 1432-1459. ; 254:8, s. 1033-6
  • Tidskriftsartikel (refereegranskat)abstract
    • Four PLS patients underwent cerebral [(11)C]-flumazenil PET. They were compared firstly with a group of controls, then later directly with a group of sporadic ALS patients and a familial ALS group homozygous for the 'D90A' SOD1 gene mutation. There was a similar pattern of decreased binding in PLS patients when compared to controls as that seen in a previous study of sporadic ALS patients, supporting the concept that PLS is part of the same overall spectrum of MND. However, in direct group comparisons, both sporadic and homD90A ALS patients demonstrated relative decreases in anterior and orbito-frontal binding compared to PLS patients, suggesting that there may be differences in cortical vulnerability between phenotypic groups.
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15.
  • Turner, Martin R, et al. (författare)
  • Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis.
  • 2007
  • Ingår i: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. - 1471-180X. ; 8:6, s. 343-7
  • Tidskriftsartikel (refereegranskat)abstract
    • Patients homozygous for the D90A mutation of the SOD1 gene (homD90A) demonstrate markedly slower progression of disease than those patients with sporadic ALS (SALS). PET studies have demonstrated a different cortical vulnerability in the two groups, reflected also in neurophysiological studies showing reduced cortical excitability in homD90A. Voxel-based morphometric analysis of magnetic resonance images (MRIs) enables the detection of regional differences in grey matter volume, and can be used to localize cortical atrophy in vivo. In this study, segmented, spatially normalized, modulated and smoothed grey matter portions of the MRIs from 23 SALS and seven homD90A patients with similar disability, were compared with those from 28 healthy control subjects. The SALS group showed bilateral areas of atrophy mainly confined to motor and pre-motor cortices. Cortical changes in the homD90A group were more pronounced within the frontal lobes when both were compared with healthy controls. This study provides further evidence for a different pattern of cortical neuronal vulnerability in homD90A versus SALS patients that may provide insight as to their slower rate of disease progression.
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  • Resultat 11-15 av 15
  • Föregående 1[2]
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