Results 141 to 150 of about 5,003,572 (301)

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  

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Structural determination of lipid-bound factor VIII. [PDF]

J Thromb Haemost
Mohammed BM.
europepmc   +1 more source

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

Investigative reporting on factor VIII whereabouts. [PDF]

Blood Adv
Pratt KP.
europepmc   +1 more source

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang, Shaoxin Tao, Qiujia Wang, Xiaoyu Xu, Hui Yao, Zheng Liu, Dawei Li, Zhandong Qiu, Jinming Han, Jiangwei Xia, Qi Wang, Jun Sun, Kai Shao, Jiao Li, Shishuang Ruan, Yi Zhong, Jun Guo, Shougang Guo, Yue Huang, Guoliang Chai, Tao Jin, Hongyu Zhou, Junwei Hao, Yinan Zhao   +23 more
wiley   +1 more source

Spójnia, Rok VII/Rok VIII, 1923 r.

, 1923
Czasopismo młodzieży ziemi Sandomierskiej. W naszych zbiorach znajdują się następujące numery wydane w 1923 r.: nr 5-10(Rok VII) i nr 1-4 (Rok VIII).

core  

Identification of a protein S-binding site in the C2 domain of factor VIII light chain. [PDF]

Res Pract Thromb Haemost
Furukawa S, Takeyama M, Nogami K.
europepmc   +1 more source