Results 81 to 90 of about 351,102 (361)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Research advances on microRNA in amyotrophic lateral sclerosis

Xin yixue
Amyotrophic lateral sclerosis (ALS) is a rare neurological disorder affecting both upper and lower motor neurons. Its pathogenesis remains unclear, and there is currently no effective treatment. A growing body of research indicates that patients with ALS
Jialin YAO, Xiaoyan XU, Yunxiang GUAN, Baicheng QIAN, Baoliang WANG   +4 more
doaj   +1 more source

Targeting the muscle for the treatment and prevention of hepatic encephalopathy [PDF]

, 2016
Muscle mass loss or sarcopenia is a principle component of malnutrition which prevails in 65–90% of patients with end-stage liver disease [1]. Intuitively, the roots of malnutrition play a precipitating role in muscle catabolism.
Bémeur, Chantal, Rombouts, Krista, Rose, Christopher   +2 more
core   +2 more sources

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Homocysteine in cerebrovascular disease: An independent risk factor for subcortical vascular encephalopathy [PDF]

, 2001
Hyperhomocysteinemia is a risk factor for obstructive large-vessel disease. Here, we studied plasma concentrations of homocysteine and vitamins in patients suffering from subcortical vascular encephalopathy (SVE), a cerebral small-vessel disease leading ...
Aufenanger, Johannes, Bertsch, Thomas, Casarin, Wendy, Fassbender, Klaus, Höly, Sabine, Kuehl, Sandra, Mielke, Orell, Muehlhauser, Frank, Ragoschke, Andreas, Walter, Silke, Zimmer, Wilma   +10 more
core   +1 more source

Hepatic Encephalopathy [PDF]

Journal of Veterinary Internal Medicine, 1992
Abstarct Hepatic encephalopathy occurs in a number of different species as a result of either congenital portacaval shunts or acquired liver disease. Despite intensive research, the neurochemical basis of the disorder has not been defined.
openaire   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Moderate hypothermia within 6 h of birth plus inhaled xenon versus moderate hypothermia alone after birth asphyxia (TOBY-Xe): a proof-of-concept, open-label, randomised controlled trial [PDF]

, 2015
Background Moderate cooling after birth asphyxia is associated with substantial reductions in death and disability, but additional therapies might provide further benefit.
Azzopardi, D, Bainbridge, A, Cady, E, Charles-Edwards, G, Deierl, A, Edwards, AD, Fagiolo, G, Franks, NP, Griffiths, J, Hajnal, J, Juszczak, E, Kapetanakis, B, Linsell, L, Maze, M, Omar, O, Robertson, NJ, Strohm, B, Tusor, N   +17 more
core   +2 more sources

The Case of a 19‐Year‐Old Woman Presenting With Headache and Transient Loss of Consciousness

Annals of Clinical and Translational Neurology, EarlyView.
Yan Lin, Xiaoyu Zhou, Lin Shen, Kunqian Ji, Yuying Zhao, Chuanzhu Yan, Yiming Liu, Wei Li   +7 more
wiley   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source