Results 151 to 160 of about 379,319 (247)

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain. [PDF]

Eur J Neurol
Carretero-Vilarroig L, Sivera R, Baviera R, Espinós C, Muelas N, Vazquez-Costa JF, Aller E, Bataller L, Jaijo T.   +8 more
europepmc   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report. [PDF]

Mol Cytogenet
Zhang LJ, Liu WL, Shao SY, Xu Y, Zhou L.
europepmc   +1 more source

Targeted molecular strategies for X-linked genetic disorders: the paradigmatic models of Fabry disease and Haemophilias

, 2020
Il trattamento delle malattie genetiche, pur avendo notevolmente migliorato la qualità di vita dei pazienti, presenta spesso limiti dovuti, ad esempio, all'inaccessibilità del tessuto da trattare, alla breve emivita del farmaco, o alla difficoltà nel veicolare transgeni di grandi dimensioni.
openaire   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

Comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature. [PDF]

Clin Case Rep
Khalili M, Fahadani MY, Bidaki R, Talayi Z.   +3 more
europepmc   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Deciphering autosomal and X-linked genetic effects of early growth traits in Murciano-Granadina goats via a multivariate animal model. [PDF]

Vet Anim Sci
Ehsaninia J, Zandi MB, Taned M, Bagheripour A.   +3 more
europepmc   +1 more source

Changes in Immune‐Inflammation Status and Acute Ischemic Stroke Prognosis in Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Inflammation is a critical risk factor for poor outcomes in cerebral infarction. Prior studies focused primarily on baseline inflammation status, neglecting dynamic longitudinal changes. We try to investigate the association between immune‐inflammation status alterations and stroke prognosis, and evaluated three systemic biomarkers'
Songfang Chen, Wenting Huang, Yitian Liu, Xuan Chen, Buyu Ke, Qian Shen, Hanyu Cai, Jing Sun, Yan Li, Yungang Cao, Beilei Hu, Keyang Chen   +11 more
wiley   +1 more source

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges. [PDF]

Genes (Basel)
Glotov AS, Nasykhova YA, Lazareva TE, Dvoynova NM, Shabanova ES, Danilova MM, Osinovskaya NS, Barbitoff YA, Maretina MA, Gorodnicheva EE, Tonyan ZN, Kiselev AV, Basipova AA, Bespalova ON, Kogan IY.   +14 more
europepmc   +1 more source