Results 91 to 100 of about 123,267 (281)

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa

, 1993
We have characterized at the DNA and protein levels a mutant factor IX, factor IX Strasbourg 2, which is responsible for a severe form (<0.01 U/ml) of haemophilia B. Factor IX Strasbourg 2 has a higher molecular weight than normal factor IX.
Ebel, C., Roecklin, D., Bischoff, Rainer; id_orcid, Ohlmann, P., C. de la, Salle, Hartmann, M.L., Balland, A., Ravanat, C., Schuhler, S., Charmantier, J.L.   +9 more
core   +1 more source

Reperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.
Felix Schlicht, Lukas Meyer, Gabriel Broocks, Matthias Bechstein, Christian Thaler, Christian Heitkamp, Laurens Winkelmeier, Vincent Geest, Alexander Heitkamp, Maximilian Jungnitz, Gregor Peter, Luca Meucci, Tobias Faizy, Jawed Nawabi, Caspar Brekenfeld, Fabian Flottmann, Maximilian Schell, Alexandros Hadjilaou, Uta Hanning, Götz Thomalla, Jens Fiehler, Susanne Gellißen, Helge C. Kniep, for the German Stroke Registry Endovascular Treatment, (GSR‐ET) Alexander Nave, Anna Alegiani, Annerose Mengel, Arno Reich, Bernd Eckert, Charlotte Pietrock, Christian Nolte, Eberhard Siebert, Fabian Flottmann, Fee Keil, Franziska Dorn, Gabor Petzold, Götz Thomalla, Hanna Zimmermann, Jan Borggrefe, Jan Hendrik Schäfer, Jens Fiehler, Joachim Röther, Klaus Gröschel, Lars Kellert, Mario Abruscato, Maximilian Schell, Omid Nikoubashman, Peter Schellinger, Silke Wunderlich, Steffen Tiedt, Sven Thonke, Timo Uphaus, Tobias Boeckh‐Behrens, Ulrike Ernemann   +53 more
wiley   +1 more source

Importancia del diagnóstico de portadoras en familias con antecedentes de hemofilia

Revista Cubana de Hematología, Inmunología y Hemoterapia
La hemofilia es una enfermedad hemorrágica hereditaria ligada al cromosoma X que se presenta debido a mutaciones en los genes del factor VIII (hemofilia A) y el factor IX (hemofilia B), que ocasiona una disminución o deficiencia funcional de estas ...
Kalia Lavaut Sánchez
doaj  

Hemofilia II. Aspectos moleculares y de genética poblacional Hemophilia II. Molecular and population genetics

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  

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

The molecular mechanism of factor IX activation by factor XIa

, 2009
Activation of coagulation factor IX is a pivotal reaction in the formation and maintenance of a fibrin clot. Factor IX is activated by two structurally unrelated enzymes; factor XIa of the intrinsic coagulation cascade and the extrinsic cascade complex ...
Smith, Stephen Bradford
core  

Factor IX gene mutations in turkish haemophiliacs [PDF]

, 2005
Hemofili B hastalığının nedeni, kanın temel fonksiyonları arasında bulunan koagülasyon mekanizmasında etkin olan faktör IX’un konjenital eksikliği veya disfonksiyonel olmasıdır.
Özdemir, Muhsin, Kavaklı, Kaan, Artan, Sevilhan, Çilingir, Oğuz, Müslümanoğlu, M. Hamza, Solak, Mustafa   +5 more
core  

Blood Coagulation Factor IX: Purification, Isolation, Activation

, 2022
This paper attempts to provide an optimized strategy for the purification, activation, and isolation of blood coagulation Factor IX mutants. The goal of this work is to enable future biochemical and structural studies of Factor IX to a gain a better ...
MacNeil, Alex
core  

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B

Journal of Blood Medicine
Khanh Quoc Bach,1– 3 Chinh Quoc Duong,1,2 Huong Thi Bich Vu,1 Binh Thanh Ngoc Nguyen,1 Trang Thuy Nguyen,1 Mai Thi Nguyen,1 Ruoxin Li,4 Wendy Hutchison,4 Farisha Shabnam Esaq,4 Huyen Tran,5 Thanh Ha Nguyen1,3 1National Institute of Hematology and Blood ...
Bach KQ, Duong CQ, Vu HTB, Nguyen BTN, Nguyen TT, Nguyen MT, Li R, Hutchison W, Esaq FS, Tran H, Nguyen TH   +10 more
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