Results 111 to 120 of about 368,952 (258)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Interactive knowledge discovery and data mining on genomic expression data with numeric formal concept analysis. [PDF]

BMC Bioinformatics, 2016
González-Calabozo JM, Valverde-Albacete FJ, Peláez-Moreno C.   +2 more
europepmc   +1 more source

IV Thrombolysis Facilitates Interventional Reperfusion in Non‐Cardioembolic but Not Cardioembolic Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...
Annahita Sedghi, Daniel P. O. Kaiser, Martin Arndt, Norma J. Diel, Erik Simon, Witold H. Polanski, Volker Puetz, Hagen B. Huttner, Timo Siepmann   +8 more
wiley   +1 more source

A formal concept analysis and semantic query expansion cooperation to refine health outcomes of interest. [PDF]

BMC Med Inform Decis Mak, 2015
Curé OC, Maurer H, Shah NH, Le Pendu P.
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Researcher-participant confidentiality now a formal concept in Canadian law. [PDF]

CMAJ, 2014
Shuchman M.
europepmc   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Inferring domain-domain interactions from protein-protein interactions with formal concept analysis. [PDF]

PLoS One, 2014
Khor S.
europepmc   +1 more source

Physician Referral Patterns to Physical Therapists for Managing Knee Osteoarthritis: A Retrospective Analysis of Electronic Health Records From an Integrated Health System

Arthritis Care &Research, EarlyView.
Objective This study aims to describe the frequency and timing of physician referrals to physical therapists (PTs) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja, Joel M. Stevans, Gustavo J. Almeida, Clair Smith, Janet K. Freburger   +4 more
wiley   +1 more source