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#1Semra Hiz Kurul (DEÜ: Dokuz Eylül University)H-Index: 19
#2Yavuz Oktay (DEÜ: Dokuz Eylül University)H-Index: 11
Last. Rita Horvath (University of Cambridge)H-Index: 65
view all 35 authors...
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families, recru...
#1Stefan Dukic (UMC: University Medical Center Utrecht)H-Index: 4
#2Roisin McMackin (TCD: Trinity College Dublin)H-Index: 4
Last. Bahman Nasseroleslami (TCD: Trinity College Dublin)H-Index: 12
view all 23 authors...
Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised primarily by motor system degeneration, with clinical evidence of cognitive and behavioural change in up to 50% of cases. ALS is both clinically and biologically heterogeneous. Subgrouping is currently undertaken using clinical parameters, such as site of symptom onset (bulbar or spinal), burden of disease (based on the modified El Escorial Research Criteria) and genomics in those with familial disease. However, with the ...
#1Sasha Ondobaka (UCL: University College London)H-Index: 11
#2William De Doncker (UCL: University College London)H-Index: 2
Last. Annapoorna Kuppuswamy (UCL: University College London)H-Index: 5
view all 4 authors...
Persistent fatigue is a major debilitating symptom in many psychiatric and neurological conditions, including stroke. Post-stroke fatigue has been linked to low corticomotor excitability. Yet, it remains elusive what the neuronal mechanisms are that underlie motor cortex excitability and chronic persistence of fatigue. In this cross-sectional observational study, in two experiments we examined a total of 59 non-depressed stroke survivors with minimal motoric and cognitive impairments using 'rest...
#1Laura E Baldassari (CDER: Center for Drug Evaluation and Research)
#2Mike P. Wattjes (MHH: Hannover Medical School)H-Index: 63
Last. Nancy RichertH-Index: 21
view all 8 authors...
Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system caused by the JC virus, which infects white and grey matter cells and leads to irreversible demyelination and neuroaxonal damage. Brain magnetic resonance imaging (MRI), in addition to the clinical presentation and demonstration of JC virus DNA either in the CSF or by histopathology, is an important tool in the detection of PML. In clinical practice, standard MRI pulse sequences are utili...
#1Thomas Julian (University of Sheffield)H-Index: 6
#2Sarah L Boddy (University of Sheffield)H-Index: 3
Last. Pamela J. Shaw (University of Sheffield)H-Index: 112
view all 12 authors...
Amyotrophic lateral sclerosis (ALS) is a relatively common and rapidly progressive neurodegenerative disease which, in the majority of cases, is thought to be determined by a complex gene-environment interaction. Exponential growth in the number of performed genome-wide association studies (GWAS), combined with the advent of Mendelian randomization (MR) is opening significant new opportunities to identify environmental exposures which increase or decrease the risk of ALS. Each of these discoveri...
#1Angela Sirigu (CNRS: French National Centre for Scientific Research)H-Index: 63
#2Michel Desmurget (CNRS: French National Centre for Scientific Research)H-Index: 36
#1Maria Isabel Carreño-Muñoz (University of Montreal)
Last. Graziella Di Cristo (University of Montreal)H-Index: 18
view all 10 authors...
Amongst the numerous genes associated with intellectual disability, SYNGAP1 stands out for its frequency and penetrance of loss-of-function variants found in patients, as well as the wide range of co-morbid disorders associated with its mutation. Most studies exploring the pathophysiological alterations caused by Syngap1 haploinsufficiency in mouse models have focused on cognitive problems and epilepsy, however whether and to what extent sensory perception and processing are altered by Syngap1 h...
#1David Badre (Brown University)H-Index: 35
#1Samar Khoury (McGill University)H-Index: 14
#2Marc Parisien (McGill University)H-Index: 24
Last. Luda Diatchenko (McGill University)H-Index: 62
view all 13 authors...
Chronic pain is often present at more than one anatomical location, leading to chronic overlapping pain conditions (COPC). Whether COPC represents a distinct pathophysiology from the occurrence of pain at only one site is unknown. Using genome-wide approaches, we compared genetic determinants of chronic single-site vs. multisite pain in the UK Biobank. We found that different genetic signals underlie chronic single-site and multisite pain with much stronger genetic contributions for the latter. ...
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