Results 251 to 260 of about 4,650,653 (318)

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

Enhancing Clinical Data Infrastructure for AI Research: Comparative Evaluation of Data Management Architectures. [PDF]

J Med Internet Res
Gebler R, Reinecke I, Sedlmayr M, Goldammer M.   +3 more
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

Effects of coaching with data management system intervention or usual care on glycemic control in patients with type 2 diabetes: A multicentre, randomised controlled trial. [PDF]

Diabetes Obes Metab
Verket M, Buitkamp LF, Kanna NDD, Thomas A, Denger R, Petry F, Schubert-Olesen O, Stütz W, Simon J, Pihusch M, Dötsch I, Krob G, Tews D, Stolz D, Bergis D, Lenthe T, Schmidt-Mergenthaler F, Dahlmann E, Boehm K, Jacobsen M, Müller-Wieland D, Brandts J.   +21 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

A Pilot Project to Evaluate the Benefit of Additional Support in Haematopoietic Cell Transplant (HCT) Research Data Management on Behalf of Anthony Nolan and BSBMTCT. [PDF]

EJHaem
Hewerdine S, Judge G, Lee J, Braund H, Allen H, Snowden JA, Carpenter B, Blake H, Venayakamoorthy Y, Potter V, Smith T, Vermeir L, Marsh SGE, Mayor NP.   +13 more
europepmc   +1 more source

Review of open-source software for developing heterogeneous data management systems for bioinformatics applications. [PDF]

Bioinform Adv
Silva D, Moir M, Dunaiski M, Blanco N, Murtala-Ibrahim F, Baxter C, de Oliveira T, Xavier JS, INFORM Africa Research Study Group .   +8 more
europepmc   +1 more source

Hypertension and Postoperative Outcomes: A Retrospective Cohort Study

Anesthesiology Research and Practice
Taeko Fukuda, Norihiko Inoue, Kazushi Maruo, Hiromasa Horiguchi   +3 more
doaj   +1 more source

Level and predictors of routine health management information system data management practice among health professionals working at public health facilities in Dire Dawa administration, eastern Ethiopia. [PDF]

BMC Health Serv Res
Tafere NG, Damtew B, Aliye A, Kuliche A, Tolera M.   +4 more
europepmc   +1 more source