Results 251 to 260 of about 39,153 (304)

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

Operation status, quality, and premature birth information in obstetrics and gynecology facility websites in Korea: an evaluation study. [PDF]

Womens Health Nurs
Kim SH.
europepmc   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

Reflections on a global partnership for perinatal quality improvement in Rwanda. [PDF]

BMJ Paediatr Open
Tuyisenge L, Habonimana JP, Nsengiyumva A, Cyiza FR, Manzi E, Desie S, Pledge A, McMurtrie S, Muzard-Banes C, Bontoux M, Taylor S.   +10 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

Clinical experiences of 109 children with foreign body ingestion: a retrospective study from Kunming, China. [PDF]

Front Pediatr
Li Z, Yang C, Duan J, Fang J, Chen J, He S, Li J.   +6 more
europepmc   +1 more source

Improving Online Drug Information: Insights from Quality Evaluation and Pharmaceutical System Design. [PDF]

Healthc Inform Res
Permatasari D, Syofyan, Yulianto AA, Qholbya W, Ridwan AA, Srangenge Y.   +5 more
europepmc   +1 more source

'At least our pituitaries will see the world': Pituitary gland export from communist Bulgaria. [PDF]

Med Hist
Koleva D.
europepmc   +1 more source

Gender-based differences in colorectal cancer screening uptake in Singapore: a cross-sectional study. [PDF]

Fam Pract
Lau J, Wong GJ, Wan SW, Tan WH, Chua YX, Tan DHY, Tan KK.   +6 more
europepmc   +1 more source

Risk factors for renal stone development in adults with primary hyperparathyroidism: a protocol for a systematic review and meta-analysis. [PDF]

BMJ Open
Jay M, Andrei S, Hoang P, Samhat H, Fu R, Jones R, Lipscombe LL, Eskander A.   +7 more
europepmc   +1 more source