Results 71 to 80 of about 663,441 (269)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

[Neurotransmitters and neurologic disorders].

No to hattatsu = Brain and development, 1989
Neurotransmitters should fulfil the following main three criteria; 1) they should be localized in synaptic terminals, 2) they should have certain actions on neurons, 3) they should be released from the terminals after nerve stimulation. In addition to the above three, recent studies have revealed that neurotransmitters should have their own receptors ...
openaire   +2 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Integrative multi-omics analysis identifies genetically supported druggable targets and immune cell specificity for myasthenia gravis

Journal of Translational Medicine
Background Myasthenia gravis (MG) is a chronic autoimmune disorder characterized by fluctuating muscle weakness. Despite the availability of established therapies, the management of MG symptoms remains suboptimal, partially attributed to lack of efficacy
Jiao Li, Fei Wang, Zhen Li, Jingjing Feng, Yi Men, Jinming Han, Jiangwei Xia, Chen Zhang, Yilai Han, Teng Chen, Yinan Zhao, Sirui Zhou, Yuwei Da, Guoliang Chai, Junwei Hao   +14 more
doaj   +1 more source

Current Options and Future Directions in Immune Therapy for Glioblastoma

Frontiers in Oncology, 2018
Glioblastoma is in need of innovative treatment approaches. Immune therapy for cancer refers to the use of the body's immune system to target malignant cells in the body.
John Lynes, John Lynes, Victoria Sanchez, Gifty Dominah, Anthony Nwankwo, Edjah Nduom   +5 more
doaj   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Neurosteroids and neurological disorders

The Korean Journal of Physiology & Pharmacology
Neurosteroids play an important role as endogenous neuromodulators that are locally produced in the central nervous system and rapidly change the excitability of neurons and the activation of microglial cells and astrocytes. Here we review the mechanisms of synthesis, metabolism, and actions of neurosteroids in the central nervous system. Neurosteroids
Park, Gi Wan, Kim, Hayoung, Won, Seong Hyun, Kim, Nam Hyun, Choi, Sheu-Ran   +4 more
openaire   +2 more sources

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Chinese neuroimmunological disease (NIDBase) cohort study: cohort profile

BMJ Open
Purpose The Chinese neuroimmunological disease database (NIDBase) cohort was established to explore genetic and environmental risk factors, clinical features, multi-omics data and prognostic biomarkers.
Zheng Liu, Jiangwei Xia, Siqi Chen, Ming Lin, Junwei Hao, Dawei Li, Yinan Zhao, Jinming Han, Yuqi Tang, Zhandong Qiu, Huiqing Dong, Mengyao Zhang, Teng Chen, Shishuang Ruan, Qiujia Wang, Yi Men, Ruiping Gao, Hanyue Zheng, Jiajian Li, Yuan Qi, Yingtao Wang, Xixi Yang   +21 more
doaj   +1 more source