Results 201 to 210 of about 685,753 (262)

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

Artificial Intelligence vs. Human Experts in Temporomandibular Joint MRI Interpretation: A Systematic Review. [PDF]

Healthcare (Basel)
Leketas M, Stonkutė I, Miškinytė M, Afanasjevas D.   +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

Inference of Lineage-Resolved Cell Identities in Uncompressed <i>C. elegans</i> Embryos. [PDF]

MicroPubl Biol
Tran MP, Peinado N, Zhao Z, Shah PK.
europepmc   +1 more source

Prevalence, Associated Factors, and Temporal Trends of Brucella Detection Across Human and Animal Hosts in Bangladesh: A 25-Year Meta-Analysis. [PDF]

Vet Med Sci
Raquib R, Arnob FA, Hossain R, Raquib A, Mamun TI.   +4 more
europepmc   +1 more source

Radiographic assessment of post-endodontic filling features on PAN and CBCT: diagnostic agreement of an AI platform against CBCT consensus. [PDF]

Sci Rep
Kazimierczak N, Wajer R, Wajer A, Chwarścianek N, Sultani N, Jankowski T, Serafin Z, Janiszewska-Olszowska J, Kazimierczak W.   +8 more
europepmc   +1 more source

Benchmarking Multimodal Vision Frontier Models With Lumbar Spine MRIs for Grading Lumbar Spinal Stenosis. [PDF]

Global Spine J
Gebhard H, Kartal A, Manalil NF, Chung LK, Daulat SR, Cheng CD, Waheed AA, Shahzadi A, Hussain I, Härtl R, Elsayed GA.   +10 more
europepmc   +1 more source

Early Pregnancy Diagnosis in Sows: A Comparative Evaluation of Ultrasonographic and Progesterone-Based Methods. [PDF]

Life (Basel)
Garbev G, Dimitrov S.
europepmc   +1 more source

Diagnostic accuracy of the Xpert MTB Host-Response assay for tuberculosis disease in adolescents and adults: a systematic review and individual patient data meta-analysis protocol. [PDF]

BMJ Open
Muchie KF, Tobian F, Gaeddert M, Denkinger CM, Wright JK, Gupta-Wright A.   +5 more
europepmc   +1 more source