Results 231 to 240 of about 757,606 (279)

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

A mixed-method study on physicians' perceptions of pay for performance: impact on professionalism, morality and work-life balance. [PDF]

BMC Health Serv Res
Kavas MV, Tut H, Senyurek G, Elhan AH.
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Improving Work-life Balance and Satisfaction to Improve Patient Care. [PDF]

Indian J Crit Care Med
Mitra LG, Sharma J, Walia HS.
europepmc   +1 more source

There's more fun than work: Neurologist Walter Shelden's atypical work-life balance in early 20th century medicine. [PDF]

Proc (Bayl Univ Med Cent)
Rogers NP, Boes CJ.
europepmc   +1 more source

The Mediating Role of Work-Life Balance Between Perceived Partner Support and Satisfaction with Food-Related Life in Dual-Earning Parents and Their Adolescents. [PDF]

Nutrients
Schnettler B, Concha-Salgado A, Grunert KG, Orellana L, Saracostti M, Beroiza K, Poblete H, Lobos G, Adasme-Berríos C, Lapo M, Riquelme-Segura L, Sepúlveda JA, Reutter K, Thomas E.   +13 more
europepmc   +1 more source

Publisher Correction: A mixed-method study on physicians' perceptions of pay for performance: impact on professionalism, morality and work-life balance. [PDF]

BMC Health Serv Res
Kavas MV, Tut H, Senyurek G, Elhan AH.
europepmc   +1 more source

Work-life balance: A landscape mapping of two decades of scholarly research. [PDF]

Heliyon
Zaitouni M, Hewapathirana G, Mostafa M, Al Hajj R, ElMelegy AR.   +4 more
europepmc   +1 more source