Results 91 to 100 of about 43,456 (236)

Vasoreactivity in CADASIL: comparison to structural MRI and neuropsychology [PDF]

, 2017
Impaired cerebrovascular reactivity precedes histological and clinical evidence of CADASIL in animal models. We aimed to more fully characterise peripheral and cerebral vascular function and reactivity in a cohort of adult CADASIL patients, and explore ...
Cullen, Breda, Dani, Krishna, Delles, Christian, Lopez Gonzalez, Rosario, Moreton, Fiona C., Muir, Keith W., Santosh, Celestine   +6 more
core   +1 more source

Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

Annals of Indian Academy of Neurology, 2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ...
Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu   +3 more
doaj   +1 more source

Intrafamilial Variability in WARS2‐Related Disorder: A Family Case

Movement Disorders Clinical Practice, EarlyView.
Federica Graziola, Federica Rachele Danti, Giorgia Segre, Morgana Fregonese, Rossella Izzo, Eleonora Lamentea, Daniele Ghezzi, Anna Ardissone, Giovanna Zorzi   +8 more
wiley   +1 more source

Type I interferon signalling and interferon‐responsive microglia in health and disease

The FEBS Journal, EarlyView.
Recent insights reveal that type I interferon (IFN‐I) signalling plays critical roles in the nervous system beyond antiviral defence. Dysregulated IFN‐I activity is increasingly linked to neurological dysfunction and neurodegeneration, with microglia as central mediators. This review explores the broader impact of IFN‐I signalling on the nervous system
Jose P. Lopez‐Atalaya, Aysha M. Bhojwani‐Cabrera   +1 more
wiley   +1 more source

Carotid Atherosclerotic Markers in CADASIL [PDF]

, 2011
Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations of the NOTCH3 gene. Marked variations in disease severity have raised the hypothesis that
Aout, Mounir, Chabriat, Hugues, Dichgans, Martin, Düring, Marco, Mawet, Jerome, Touboul, Pierre Jean, Vahedi, Katayoun, Vicaut, Eric   +7 more
core   +1 more source

Genetic migraine disorders and the response to calcitonin gene‐related peptide antagonist treatment

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Calcitonin gene‐related peptide (CGRP) is a potent cerebral vasodilator and part of the trigeminal migraine cascade. Newer migraine therapies target CGRP signaling for both acute and preventative management of headache. In this series, we present two cases of genetic conditions, of which migraine is a key feature, responsive to CGRP antagonist
Andrea M. Kuczynski, William S. Kingston
wiley   +1 more source

New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]

, 1984
The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter, Kessler, C., Krause, Klaus-Henning, Reuther, R.   +3 more
core   +1 more source

Late diagnosis of HIV among Ukrainian refugees in the Czech Republic: A retrospective, observational study

HIV Medicine, EarlyView.
Abstract Objectives This retrospective, observational, non‐interventional study describes the demographics, characteristics, immunological and virological status, coinfections, healthcare unit of HIV diagnosis and follow‐up status of Ukrainian refugees with newly diagnosed HIV in the Czech Republic, with a special focus on those with a late HIV ...
Zofia Bartovská, Ricardo Massmann, David Jilich, Tomáš Groh, Lukáš Fleischhans, Milan Zlámal, Radek Svačinka, David Vydrář, Dalibor Sedláček, Miroslav Kubiska, Jaroslav Kapla, Lucie Nepovímová, Daniela Bartková, Lenka Olbrechtová, Zdeňka Jerhotová, Eva Novotná, Jakub Wnuk, Vratislav Němeček, Pavel Dlouhý, Štěpán Cimrman, Marek Malý   +20 more
wiley   +1 more source

Drug Interaction With Advanced Therapies in Inflammatory Bowel Diseases: A Blind Spot to Tackle

United European Gastroenterology Journal, EarlyView.
Nathan Grellier, Julien Kirchgesner
wiley   +1 more source

Efficacy and safety of etrasimod in alopecia areata: A multicentre, randomized, double‐blind, placebo‐controlled, Phase 2 study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Patients with alopecia areata received etrasimod 2 mg, 3 mg or placebo oncedaily for 24 weeks, followed by a 28‐week open‐label extension period. Overall, etrasimod 2 mg and 3 mg were safe and well tolerated in patients; their efficacy was numerically higher than placebo and appeared to be dose dependent.
B. King, N. Mesinkovska, M. Senna, X. Luo, J. Minkiewicz, A. Selfridge   +5 more
wiley   +1 more source