Results 211 to 220 of about 6,504,376 (296)

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

The First Fifty Years of Finite-Time Thermodynamics. [PDF]

Entropy (Basel)
Andresen B, Salamon P.
europepmc   +1 more source

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov, Alexander F. Santillo, Patrick R. Hof   +2 more
wiley   +1 more source

On the Meaning of Local Symmetries: Epistemic-ontological Dialectics. [PDF]

Found Phys
François J, Ravera L.
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

MOSRS: An engineering multi-objective optimization through Einsteinian concept. [PDF]

PLoS One
Goodarzimehr V, Pereira JLJ, Khodadadi N.   +2 more
europepmc   +1 more source

Hip Morphology–Based Osteoarthritis Risk Prediction Models: Development and External Validation Using Individual Participant Data From the World COACH Consortium

Arthritis Care &Research, EarlyView.
Objective This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods We combined data from nine prospective cohort studies participating in the Worldwide Collaboration ...
Myrthe A. van den Berg, Fleur Boel, Michiel M. A. van Buuren, Noortje S. Riedstra, Jinchi Tang, Harbeer Ahedi, Nigel K. Arden, Sita M. A. Bierma‐Zeinstra, Cindy G. Boer, Flavia M. Cicuttini, Timothy F. Cootes, David T. Felson, Willem Paul Gielis, Joshua Heerey, Graeme Jones, Stefan Kluzek, Nancy E. Lane, Claudia Lindner, Joyce B. J. van Meurs, Andrea Mosler, Amanda E. Nelson, Michael C. Nevitt, Edwin H. Oei, Jos Runhaar, Harrie Weinans, Jesse H. Krijthe, Rintje Agricola   +26 more
wiley   +1 more source

Emergence of Calabi-Yau manifolds in high-precision black-hole scattering. [PDF]

Nature
Driesse M, Jakobsen GU, Klemm A, Mogull G, Nega C, Plefka J, Sauer B, Usovitsch J.   +7 more
europepmc   +1 more source

Physician Referral Patterns to Physical Therapists for Managing Knee Osteoarthritis: A Retrospective Analysis of Electronic Health Records From an Integrated Health System

Arthritis Care &Research, EarlyView.
Objective This study aims to describe the frequency and timing of physician referrals to physical therapists (PTs) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja, Joel M. Stevans, Gustavo J. Almeida, Clair Smith, Janet K. Freburger   +4 more
wiley   +1 more source

If Freud had known…. [PDF]

Front Psychol
Hendrickx M, Tousart Q, Drouin E.
europepmc   +1 more source