Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene [PDF]
H. J. Hassan+8 more
openalex +1 more source
Blood exosome connexins and small RNAs related to demyelinating disease activity
Abstract Objectives To assess blood exosome (Ex)‐connexin (Cx)43 (encoded by GJA1) and its truncated isoforms in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), which show distinct alterations in astroglial Cx43. Methods Serum Exs from 48 patients with MS (34 relapsing–remitting, 14 secondary‐progressive), 35 with NMOSD, 20 ...
Guzailiayi Maimaitijiang+12 more
wiley +1 more source
Fibrin formation, fibrinopeptide A release, and platelet thrombus dimensions on subendothelium exposed to flowing native blood: greater in factor XII and XI than in factor VIII and IX deficiency [PDF]
HJ Weiss+3 more
openalex +1 more source
Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans+8 more
wiley +1 more source
Comparison of offspring outcomes in women with and without epilepsy
Abstract Objective The potential impact of antiseizure medications (ASMs) on abortion rate and bone metabolism in the offspring of pregnant women with epilepsy (WWE) is currently unknown. This research aimed to assess the potential risk by conducting a comparative analysis of bone metabolism‐related indicators in the offspring of WWE.
Huali Luo+5 more
wiley +1 more source
A Dutch family with moderately severe hemophilia B (Factor IXHeerde) has a missense mutation identical to that of factor lXLondon 2 [PDF]
S R Poort+3 more
openalex +1 more source
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah+6 more
wiley +1 more source
The Malmo polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA [PDF]
Graham Jb+4 more
openalex +1 more source
Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly+9 more
wiley +1 more source