Results 51 to 60 of about 79,054 (352)
The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype
Annals of Neurology, EarlyView.Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi +16 more
wiley +1 more source
NGLY1 deficiency—A rare congenital disorder of deglycosylation
JIMD Reports, 2020 Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and ...
Patrícia Lipari Pinto +6 more
doaj +1 more source
Gender Differences in Levodopa Pharmacokinetics in Levodopa-Naïve Patients With Parkinson’s Disease
Frontiers in Medicine, 2022 BackgroundLevodopa (LD) is the most effective drug in the treatment of Parkinson’s disease (PD). Unfortunately, prolonged use of LD leads to complications, mainly motor/non-motor fluctuations (MNMF) and dyskinesias (DYS). Women seem more prone to develop
Valeria Conti +16 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman +6 more
wiley +1 more source
Primary ciliary dyskinesia [PDF]
QJM, 2014 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary function, and ...
L J, Lobo, M A, Zariwala, P G, Noone
openaire +4 more sources
ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli +17 more
wiley +1 more source
An updated meta-analysis of amantadine for treating dyskinesia in Parkinson's disease
OncoTarget, 2017 In recent years, a few of randomized controlled trials (RCTs) about amantadine for treating dyskinesia in Parkinson's disease (PD) were completed. Here, we conducted a systematic literature review about the clinical research to provide the updated ...
M. Kong +6 more
semanticscholar +1 more source
Epilepsia, EarlyView.Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
Improvement of Tardive Dyskinesias with Olanzapine [PDF]
, 2023 Sara Echater, Bouchra Oneib
openalex +1 more source
Neurodegenerative Disease Management, 2018 Aim: To evaluate long-term effects of levodopa–carbidopa intestinal gel on dyskinesia burden. Patients & methods: Posthoc analysis of the GLORIA registry assessed subgroups of advanced Parkinson's disease patients with
W. Poewe +3 more
semanticscholar +1 more source