Results 11 to 20 of about 209,872 (209)

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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Deforestation and Efficiency: Insights From Forest Transition in the Brazilian Cerrado

Agribusiness, EarlyView.
ABSTRACT This paper estimates technical efficiency (TE) and environmental efficiency (EE) of agricultural production at the municipal level of the Brazilian Cerrado in 2006 and 2017, and investigates their underlying mechanisms in relation to forest transition theory.
Ricardo Muniz Simões, Cassiano Bragagnolo, Humberto Francisco Silva Spolador   +2 more
wiley   +1 more source

An Autonomous Large Language Model‐Agent Framework for Transparent and Local Time Series Forecasting

Advanced Intelligent Discovery, EarlyView.
Architecture of the proposed large language model (LLM)‐based agent framework for autonomous time series forecasting in thermal power generation systems. The framework operates through a vertical pipeline initiated by natural language queries from users, which are processed by the LLM Agent Core powered by Llama.cpp and a ReAct loop with persistent ...
William Gouvêa Buratto, Gabriel Villarrubia Gonzalez, Ademir Nied, Laio Oriel Seman, Anne Carolina Rodrigues Klaar, Stefano Frizzo Stefenon   +5 more
wiley   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Performatividade e gênese da cena

Revista Brasileira de Estudos da Presença, 2013
A partir do reconhecimento da tensão entre realidade e ficção recorrente na cena contemporânea, em geral definida como teatros do real, pretende-se ensaiar neste texto uma intersecção desse fenômeno com o campo teórico da performatividade, cuja ...
Sílvia Fernandes (Universidade de São Paulo - São Paulo, Brasil)
doaj  

Pracaxi Oil as a Potential Inhibitor of Fat Bloom

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Fat bloom is one of the major technological challenges faced by the chocolate industry, caused by the polymorphic transition from β2(V) to β1(VI) crystals in cocoa butter (CB). One strategy to slow down this polymorphic transition is the addition of lipids rich in very long chain fatty acids (VLCFA), such as behenic acid.
Victoria Marques Gropelli, Priscila Dayane De Freitas Santos, Thayná Torres Da Silva, Ana Paula Badan Ribeiro, Rosiane Lopes Cunha   +4 more
wiley   +1 more source

Um Diálogo às Margens do Ganges: Gordon Craig e Ananda Coomaraswamy

Revista Brasileira de Estudos da Presença, 2014
O artigo analisa o diálogo entre Edward Gordon Craig e Ananda Coomaraswamy, historiador de arte indiana, como ponto inaugural do universo investigativo conhecido como teatro intercultural e as consequências desse diálogo no pensamento do diretor inglês,
Almir Ribeiro (Universidade de São Paulo, São Paulo/SP, Brasil)
doaj  

Expediente

Último Andar, 2021
EDITOR Ênio José da Costa Brito, Ciência da Religião (PUC-SP) MANAGING EDITOR Darli Alves de Souza, Ciência da Religião (PUC-SP) SECTION EDITOR Ana Trigo, Ciências da Religião (PUC-SP) Sr.
Comitê Editorial
doaj   +1 more source

Biobased Polyurethane Films Based on Andiroba (Carapa guianensis) and Buriti (Mauritia flexuosa) Oil Polyols

Journal of Applied Polymer Science, EarlyView.
Polyurethane films were prepared from andiroba (Carapa guianensis) and buriti (Mauritia flexuosa) oil‐derived polyols, emphasizing their potential as bio‐based materials. UV–Vis analysis indicates the retention of carotenoid‐related chromophoric features within the polymer matrix.
João A. P. da Silva, Amanda L. Ferreira, Felipe F. C. Tavares, Chana M. da Silva, Cesar L. Petzhold, Nilo S. M. Cardozo   +5 more
wiley   +1 more source