Results 191 to 200 of about 68,623 (278)

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

Retained Permanent Epicardial Pacemaker Leads and Lung Abscess: A Diagnostic and Surgical Challenge. [PDF]

JACC Case Rep
Bahar AR, Jawadi MH, Cardozo S, Kumar K, Baciewicz FA.   +4 more
europepmc   +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

Public engagement in translational neuroscience: the good, the bad, and the ugly. [PDF]

Brain Commun
Spires-Jones TL.
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

Beyond Data Curation: Knowledge Curation

, 2011
openaire   +2 more sources

Author Correction: Curating global datasets of structural linguistic features for independence. [PDF]

Sci Data
Graff A, Chousou-Polydouri N, Inman D, Skirgård H, Lischka M, Zakharko T, Barbieri C, Bickel B.   +7 more
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

Assessment of Skin in Patients With Systemic Sclerosis Using High‐Frequency Ultrasound and Shear Wave Elastography: A Comparative Study With Histology, Molecular, and Clinical Parameters

Arthritis Care &Research, EarlyView.
Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai, Filemon Tan, Minghua Wu, Jeffery L. Browning, Samuel Theodore, Meng Zhang, Brian Skaug, Harshdeep Singh Chawla, Manmohan Singh, Salavat Aglyamov, Kirill V. Larin, Maureen Mayes, Shervin Assassi   +12 more
wiley   +1 more source

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source