Results 251 to 260 of about 10,497,872 (316)

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

Practice standard for project risk management [PDF]

, 2009
Project Management Institute
core  

Baseline assessment of waste management practices and opportunities for smart waste technologies in traditional markets in Indonesia. [PDF]

Front Public Health
Gusti A, Djafri D.
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

Cost-effectiveness-oriented management (CEOM) of cardiovascular risks at primary healthcare settings in Anhui, China: a protocol for a cluster randomised controlled trial. [PDF]

BMJ Open
Liu X, Liu M, Zheng Y, Ji W, Xu T, Zeng S, Fan B, Wang D, Zhang T, Kong X, Liu R, Shen X.   +11 more
europepmc   +1 more source

Evaluating the knowledge of stroke management among the non-neurological healthcare professionals in an underdeveloped county in Southwestern China. [PDF]

PLoS One
Huang X, Zhao Y, Wang S, Lin C, Xie L, Li P, Liu X, He Z, Yang L.   +8 more
europepmc   +1 more source

Quality and Guideline Adherence of Mobile Nutrition Management Apps for Diabetes: Evaluation Study. [PDF]

JMIR Diabetes
Jahanzeb S, Davoody N.
europepmc   +1 more source

Healthcare Provider Awareness and Perspectives on Obesity: A Survey Across Medical Specialties. [PDF]

Obes Sci Pract
Alawadi F, Bhatti R, Hafidh K, McGowan B, Rai S, Koechlin A, Mohseni A, Tangi F, Batterham R, Suliman SGI.   +9 more
europepmc   +1 more source

Do time management interventions support wellbeing in the workplace? A systematic review. [PDF]

Appl Psychol Health Well Being
Young AN, di Di Blasi Z, Foley S, Bourke A, Cronin S, Dwyer A, Fitzgibbon J.   +6 more
europepmc   +1 more source

Family Function and Self-Management in Glaucoma Patients: Chain Mediation of Psychological Capital and Coping Style. [PDF]

Patient Prefer Adherence
Liu Y, Zhang J, Zhang Q, Sa R, Xu H.
europepmc   +1 more source