FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Revista Cubana de Hematología, Inmunología y Hemoterapia, 2012 La prevalencia de la hemofilia esporádica fue estimada hace más de 40 años y se demostró que aproximadamente un tercio de los casos son de novo. La mayoría de las mutaciones que ocurren en la hemofilia se producen durante la espermatogénesis masculina ...
Dunia Castillo-González
doaj
Disulfide Bonds and the Quaternary Structure of Factor VIII/von Willebrand Factor [PDF]
, 1978 Richard B. Counts +2 more
openalex +1 more source
Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar +6 more
wiley +1 more source
Factor-VIII-related antigen: measurement by enzyme immunoassay. [PDF]
, 1976 Anna Bartlett +4 more
openalex +1 more source
Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić +13 more
wiley +1 more source
A Macroglobulin with Inhibitory Activity Against Coagulation Factor VIII [PDF]
, 1970 P.A. Castaldi, Ronald Penny
openalex +1 more source
Cortical Excitability Before and After Long‐Term Perampanel Treatment for Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Antiseizure medications (ASMs), which may influence cortical excitability, are the mainstay of epilepsy treatment. Transcranial magnetic stimulation (TMS) helps evaluate cortical excitability. We assessed changes in TMS responses using serial TMS measurements in people treated with an adjunctive noncompetitive AMPA‐receptor ...
Robert M. Helling +6 more
wiley +1 more source
The Properties of Immune Complexes Formed by Human Antibodies to Factor VIII [PDF]
, 1977 John Lazarchick, Leon W. Hoyer
openalex +1 more source
Half‐life extended factor VIII for the treatment of hemophilia A
Journal of Thrombosis and Haemostasis, 2015 A. Tiede
semanticscholar +1 more source