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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
TLDR
Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2. Expand
Genome-wide association study of neocortical Lewy-related pathology
TLDR
A genome‐wide association study (GWAS) on neocortical LRP in a population‐based sample of subjects aged 85 or over is carried out. Expand
Use of IgE and IgG4 epitope binding to predict the outcome of oral immunotherapy in cow's milk allergy
TLDR
The objective was to explore whether IgE and IgG4 epitope binding profiles could predict the risk of side effects during CM OIT. Expand
Phosphorylation of Parkin at serine 65 is essential for its activation in vivo
TLDR
The clinical relevance of the findings is substantiated by the discovery of homozygous PARKIN (PARK2) p.S65N mutations in two unrelated patients with PD and biochemical and structural analysis demonstrates that the ParkinS 65N/S65n mutant is pathogenic and cannot be activated by PINK1. Expand
[The pathogenesis of amyotrophic lateral sclerosis and frontal lobe dementia is unraveling: pathology of the nucleus and glutamate sensitivity].
TLDR
The role of the repeat expansion in the C90RF72 gene in the epidemiology of the diseases and the resulting disturbances in nerve cell function is discussed. Expand
A novel class of somatic mutations in blood detected preferentially in CD8 + cells
TLDR
A novel class of persistent somatic mutations is unraveled, many of which were in genes that may play a role in autoimmunity (ATM, BTK, CD46, CD180, CLIP2, HMMR, IKFZF3, ITGB3, KIR3DL2, MAPK10, CD56/NCAM1, RBM6, RORA, RPA1 and STAT3). Expand
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
TLDR
The findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTd/ALS patients for HTTrepeat expansions should be considered. Expand
Mortality, morbidity and long-term results in surgically treated hyperthyroid patients. Review of 597 cases.
TLDR
Thyroid function was re-evaluated in 116 patients after a mean postoperative interval of 9 years and hyperthyroidism had recurred in ten of them and six were hypothyroid (8.6 and 5.2%). Expand
Anima: Modular Workflow System for Comprehensive Image Data Analysis
TLDR
The utility of Anima is shown with two case studies focusing on testing different algorithms developed in different imaging platforms and an automated prediction of alive/dead C. elegans worms by integrating several analysis environments. Expand
Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
TLDR
It is shown for the first time distinct risk loci for CAA and CapAβ, while TREM2 and HLA-DRB5 associated only with CapA β, and CASS4, CLU, and ZCWPW1 associatedonly with CAA. Expand
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