Results 111 to 120 of about 14,739,736 (367)

Factor IX is activated in vivo by the tissue factor mechanism [PDF]

, 1990
KA Bauer, BL Kass, Hugo Ten Cate, JJ Hawiger, RD Rosenberg   +4 more
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Scanning by DOVAM-S Detects All Unique Sequence Changes in Blinded Analyses: Evidence that the Scanning Conditions Are Generic

BioTechniques, 2000
The [detection of virtually all mutations]-SSCP (DOVAM-S) is a highly sensitive variant of single strand conformation polymorphism (SSCP). Mutations in the factor IX gene were used to find a set of five SSCP conditions that detects virtually all ...
C.H. Buzin, C.Y. Wen, V.Q. Nguyen, G. Nozari, A. Mengos, X. Li, J.S. Chen, Q. Liu, R.A. Gatti, F.K. Fujimura, S.S. Sommer   +10 more
doaj   +1 more source

CPV tests with rare kaon decays

, 2010
The K_S \to pi+/- e+ e- decay mode has been investigated using the data collected in 2002 by the NA48/1 collaboration. With about 23k signal events and 59k K_L \to pi+ pi- pi0_D normalization decays, the K_S \to pi+ pi- e+ e- branching ratio was ...
Adler, Alliegro, Appel, Barberio, Batley, Batley, Batley, Bloch, Bruno, Chen, Dubnickova, DʼAmbrosio, E. Marinova, Ecker, Fanti, Friot, Gao, Lai, Ma, Park, Sehgal, Taureg   +21 more
core   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Case Report: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy

Frontiers in Pediatrics
BackgroundHemophilia B is a rare X-linked disorder characterized by factor IX (FIX) deficiency, leading to spontaneous bleeding episodes predominantly affecting joints and muscles.
Elisa Bonetti, Maria Pia Esposto, Ada Zaccaron, Chiara Guardo, Giulia Caddeo, Matteo Chinello, Rita Balter, Vincenza Pezzella, Virginia Vitale, Simone Cesaro   +9 more
doaj   +1 more source

PRODUCTION OF HIGH LEVELS OF TRANSGENC FACTOR IX WITHOUT GENE RESCUE, AND ITS THERAPEUTIC USES [PDF]

, 2011
A non-human transgenic mammalian animal, as described above, contains an exogenous double stranded DNA sequence stably integrated into the genome of the animal, which comprises cis-acting regulatory units operably linked to a DNA sequence encoding human ...
Cooper, Julian D., O\u27Sickey, Tanya K., Velander, William Hugold   +2 more
core   +1 more source

821. Neutralizing Antibody Affects Liver-Mediated Factor IX Expression in Non-Human Primates by AAV Vectors [PDF]

, 2009

openalex   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source