Results 61 to 70 of about 731,688 (334)

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

Youth literature reading and storytelling

Knjižnica, 2011
Purpose: The aim of the study is to update the definition of Slovenian children’s literature from the perspective of literary criticism, audiences and reception.
Milena Mileva Blažić, Anja Štefan
doaj   +1 more source

Reconfiguring the national canon: The Edinburgh edition of the Collected Works of Katherine Mansfield [PDF]

, 2013
This paper looks at how the new two volume edition of the Collected Works of Katherine Mansfield, edited by Gerri Kimber and Vincent O'Sullivan, helps us to reassess the creativity of Katherine Mansfield. Gerri Kimber and Janet Wilson’s essay on the four-
Kimber, Gerri, Wilson, Janet M
core  

Affirmational and Transformational Values and Practices in the Tolkien Fanfiction Community [PDF]

, 2020
Fanfiction based on the legendarium of J.R.R. Tolkien has existed for at least six decades and has been, within the past two, one of the most consistently active online fanfiction communities. Despite this, the fandom has been relatively unstudied by fan
Walls-Thumma, Dawn M.
core   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

The National Literary Canon in the Field of Tension Between Aesthetic and Ideological Principles. The Estonian Case with Indications to the Comparative Perspectives

Interlitteraria, 2013
The article is an attempt to outline some problems regarding the literary and non-literary factors which are at work in the formation of the canon. The central example used in this analysis is the interactions between aesthetic and ideological principles
Marja Unt
doaj   +1 more source

Minority Versus Mainstream: Sir Samuel Ferguson, James Clarence Mangan, and the Anglo-Irish Literary Canon [PDF]

, 2000
Zadanie pt. „Digitalizacja i udostępnienie w Cyfrowym Repozytorium Uniwersytetu Łódzkiego kolekcji czasopism naukowych wydawanych przez Uniwersytet Łódzki” nr 885/P-DUN/2014 dofinansowane zostało ze środków MNiSW w ramach działalności upowszechniającej ...
Jędrzejewski, Jan
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Die spore van Raka: Oor herskrywing en kanonisering (Deel 2)

Tydskrif vir Letterkunde, 2017
Every literary system possesses a canon with the classical canon as the most stable and simultaneously the one with the most restrictive access. Writers and texts can only maintain their position within the canon through continuous rewriting: critical ...
H.P. Van Coller, A. Van Jaarsveld
doaj  

Etnografias imaginárias: literatura, teoria e cânone por Pozuelo Yvancos

Caligrama: Revista de Estudos Românicos, 2011
Palavras-chave: José María Pozuelo Yvancos; Teoría del canon y literatura española; crítica literária.Keywords: José María Pozuelo Yvancos; Teoría del canon y literatura española; literary criticism.
Sabrina Sedlmayer, Gabriel Schünemann, Janine Rocha, Josué Borges de Araújo Godinho, Luciano Danilo Silva, Vinícius Ribeiro Pimentel, Yara Augusto   +6 more
doaj   +1 more source