Results 171 to 180 of about 14,538,270 (379)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

SPONTANEOUSLY ACQUIRED FACTOR IX INHIBITOR IN A NON-HEMOPHILIAC CHILD [PDF]

open access: bronze, 1977
Kenneth W. Miller   +3 more
openalex   +1 more source

Change in Cognition Following Ischaemic Stroke

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline can occur following ischaemic stroke. How cognition changes over time and associations with cognitive change are poorly understood. This study aimed to explore these issues over 2 years following ischaemic stroke.
Wenci Yan   +8 more
wiley   +1 more source

Carbonic anhydrase IX downregulation linked to disruption of HIF-1, NFκB and STAT3 pathways as a new mechanism of ibuprofen anti-cancer effect.

open access: yesPLoS ONE
Numerous studies have highlighted the anti-cancer effects of nonsteroidal anti-inflammatory drugs (NSAIDs), although the underlying mechanisms remain unclear.
Katarina Grossmannova   +6 more
doaj   +1 more source

629 SEVERE FACTOR VIII AND FACTOR IX DEFICIENCY IN FEMALES [PDF]

open access: bronze, 1978
Jeanne M. Lusher, Campbell W. McMillan
openalex   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini   +7 more
wiley   +1 more source

Factor Activity Assays for Monitoring Extended Half-Life FVIII and Factor IX Replacement Therapies

open access: yesSeminars in Thrombosis and Hemostasis, 2017
S. Kitchen, S. Tiefenbacher, R. Gosselin
semanticscholar   +1 more source

Home - About - Disclaimer - Privacy