Results 31 to 40 of about 401,205 (416)

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Recent advances in targeting calcitonin gene-related peptide for the treatment of menstrual migraine

Medicine, 2022
. Menstrual migraine (MM) has a longer duration and higher drug resistance than non-perimenstrual migraine. Calcitonin gene-related peptide (CGRP) and CGRP receptors are expressed in the peripheral and central nervous systems throughout the ...
Yan Jiang, MMed, Zhen-Lun Huang, BMed
doaj   +1 more source

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

Brain : a journal of neurology, 2019
Nelson et al. describe a recently recognized brain disorder that mimics the clinical features of Alzheimer’s disease: Limbic-predominant Age-related TDP-43 Encephalopathy (LATE).
P. Nelson, D. Dickson, J. Trojanowski, C. Jack, P. Boyle, K. Arfanakis, K. Arfanakis, R. Rademakers, I. Alafuzoff, J. Attems, C. Brayne, Ian T S Coyle-Gilchrist, H. Chui, D. Fardo, M. Flanagan, G. Halliday, Suvi R K Hokkanen, S. Hunter, G. Jicha, Y. Katsumata, C. Kawas, C. Keene, G. Kovacs, W. Kukull, A. Levey, Nazanin Makkinejad, T. Montine, S. Murayama, M. Murray, S. Nag, R. Rissman, W. Seeley, R. Sperling, C. White, Lei Yu, J. Schneider   +35 more
semanticscholar   +1 more source

Glycine encephalopathy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
AbstractInherited neurotransmitter diseases are a subset of rare neurometabolic disorders characterized by hereditary deficiencies in neurotransmitter metabolism or transport. Non-ketotic hyperglycinaemia (NKH), called glycine encephalopathy, is an autosomal recessive glycine metabolism disorder characterized by an abnormal accumulation of glycine in ...
S. Bhumika, Kanthesh M. Basalingappa, T. S. Gopenath, Suman Basavaraju   +3 more
openaire   +3 more sources

Molecular dynamics and optimization studies of horse prion protein wild type and its S167D mutant [PDF]

MDPI journal Zoonotic Diseases 4(3):187-200 (2024), 2021
Prion diseases or called transmissible spongiform encephalopathies are fatal neurodegenerative diseases characterised by the accumulation of an abnormal prion protein isoform (rich in beta-sheets - about 30% alpha-helix and 43% beta-sheet), which is converted from the normal prion protein (predominant in alpha-helix - about 42% alpha-helix and 3% beta ...
arxiv   +1 more source

Hepatic encephalopathy: a neurochemical, neuroanatomical, and neuropsychological study. [PDF]

, 2006
Hepatic encephalopathy (HE) is normally diagnosed by neuropsychological (NP) tests, which are not very specific and do not reveal the underlying pathology.
Binesh, Nader, Bugbee, Mary, Davanzo, Pablo, Fawzy, Fawzy, Guze, Barry, Han, Steven, Huda, Amir, Martin, Paul, Rasgon, Natalie, Sayre, James, Thomas, M Albert, Wyckoff, Nathaniel   +11 more
core   +1 more source

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Eosinophil-to-monocyte ratio is a potential biomarker in the prediction of functional outcome among patients with acute ischemic stroke

BMC Neuroscience, 2021
Background It has been shown that eosinophils are decreased and monocytes are elevated in patients with acute ischemic stroke (AIS), but the impact of eosinophil-to-monocyte ratio (EMR) on clinical outcomes among AIS patients remains unclear. We aimed to
Shuhong Yu, Yi Luo, Tan Zhang, Chenrong Huang, Yu Fu, Qiang Zhang, Fangyue Zeng, Hao Huang, Chunyuan Zhang, Zhiliang Guo   +9 more
doaj   +1 more source

SCN 1A /Na V 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models [PDF]

Epilepsia, Wiley, 2019, 60 (S3), 2022
Pathogenic SCN1A/NaV1.1 mutations cause well defined epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and the severe epileptic encephalopathy Dravet syndrome. In addition, they cause a severe form of migraine with aura, Familial Hemiplegic Migraine.
arxiv   +1 more source

Updated nomenclature of delirium and acute encephalopathy: statement of ten Societies

Intensive Care Medicine, 2020
Segregation of published research Patients with an acute illness frequently acquire an acute, global disturbance in cognition variably referred to as delirium, encephalopathy, acute confusional state, acute brain dysfunction, acute brain failure, and ...
A. Slooter, W. Otte, J. Devlin, J. Devlin, R. Arora, T. Bleck, J. Claassen, M. Duprey, M. Duprey, E. Ely, P. Kaplan, N. Latronico, A. Morandi, K. Neufeld, T. Sharshar, A. MacLullich, R. Stevens   +16 more
semanticscholar   +1 more source