Results 41 to 50 of about 9,016,584 (304)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

New Horizons in Spanish Colonial Law [PDF]

, 2015
"Spanish colonial law, derecho indiano, has since the early 20th century been a vigorous subdiscipline of legal history. One of great figures in the field, the Argentinian legal historian Víctor Tau Anzoátegui, published in 1997 his Nuevos horizontes en ...

core   +1 more source

Comprehensive Assessment of Arterial, Tissue, and Venous Collaterals for Evaluating the Infarct Growth Rate: The Multimodal Collateral Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto, Umberto Pensato, Ilaria Casetta, Giorgio U. Marcello, Angelo Barra, Anna Poggesi, Edoardo Carlesi, Sara Mancini, Andrea Ginestroni, Vittorio Miele, Alessandro Padovani, Andrea Morotti, Enrico Fainardi   +12 more
wiley   +1 more source

DETERMINANT PRINCIPLES OF FORMATION PROFESSIONAL MOTIVATION OF A LAWYER: ADMINISTRATIVE AND LEGAL CHARACTERISTICS

Соціально-економічні відносини в цифровому суспільстві
The article examines, within the framework of administrative and legal discourse, the determinants of the formation of a lawyer's professional motivation. It is found that the characterization of a lawyer's professional motivation covers a wide range of
Mariia Blikhar
doaj   +1 more source

Administrative and legal regimes in the economic activity sphere

Проблеми Законності, 2019
The article is devoted to the analysis of the administrative and legal regime in the economic activity sphere. It is revealed that in the scientific and educational administrative and legal literature administrative and legal regime is considered in 2 ...
Світлана Іванівна Бевз
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Legal ensuring of forensic activity: modern aspect

Архів кримінології та судових наук, 2020
Forensic activity at the current stage of its development is a set of specialized knowledge and procedural rules that govern legal relations related to the appointment and conduct of forensic examinations.
Vasyl Ostropilets
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Correlation of the Concepts of “Legal Culture” and “Legal Mentality”

Теоретическая и прикладная юриспруденция, 2020
The article contains a theoretical and methodological analysis of the structure and typology of legal culture as a social phenomenon. Particular attention is paid to discussion issues, the author compares the various positions of modern scholars on this ...
N. L. Orekhova
doaj  

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