Results 71 to 80 of about 9,347 (266)

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

DISCOVERY OF UNKNOWN SCRIPT CHARACTERS IN GEORGIA: THE BASHPLEMI LAKE TABLET

Journal of Ancient History and Archaeology
. In Georgia, numerous sites date back to the Bronze Age. Nearby Bashplemi Lake, the site of the discovery of a basalt tablet bearing an inscription with unknown characters, is the site where the skull of a 1.8-million-year-old hominin, the first ...
Ramaz SHENGELIA, Levan GORDEZIANI, Nikoloz TUSHABRAMISHVILI, Nodar POPORADZE, Othar ZOURABICHVILI   +4 more
doaj   +1 more source

New Inscriptions from Nikaia XVII [PDF]

Phaselis: Disiplinlerarası Akdeniz Araştırmaları Dergisi
This article introduces a total of six new inscriptions discovered in the Central, Söğüt, and Yenipazar districts of Bilecik Province. In antiquity, these districts were part of the territorium of Nicaea. These funerary inscriptions are important in that
Hüseyin Sami ÖZTÜRK, Ali Oğuz BOZKURT   +1 more
doaj   +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

Materialność i codzienna logosfera

Teksty Drugie, 2017
A literary quotation, cut off from the original text, is widely disseminated in popular culture – it is mobile and accessible, inscribed in objects of daily use.
Bożena Shallcross
doaj  

Aesthetic Analysis of Decorative Motifs in Ganjalikhan Caravansary [PDF]

Muṭāli̒āt-i Mudīriyyat-i Gardishgarī, 2016
Ganjali khan caravansary is the most invaluable structure in Safavid era.This complex can be considered as an art museum of Safavid era in Kerman. Façade of Ganjali khan caravansary shines as a pearl in this invaluablecomplex because of the tiling ...
Mahnaz Shayestefar, Saeedeh Khaleghizadeh   +1 more
doaj  

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Epigrafi, falsi e falsari tra antichità e rinascimento. Riflessioni intorno all’erma di Menandro

Historika : Studi di Storia Greca e Romana, 2016
Presso il Museo di Antichità di Torino è conservata un’erma acefala di Menandro recante una lunga iscrizione greca composta da tredici linee di scrittura.
Enrica Culasso Gastaldi
doaj   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Greek tragedians in ancient and medieval Armenia

Шаги
1. А Greek inscription found in Armavir (Armenia) written probably in the 2nd c. BC in a script close to papyrus cursive, contains a fragment from a tragedy similar in style to Euripides. 2. Plutarch writes that the Armenian king Artavazd (Artavasdes) II
G. S. Muradyan
doaj   +1 more source