Results 41 to 50 of about 25,505 (287)

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 Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

Evaluación mutagénica del extracto acuoso liofilizado de Clibadium surinamense L. (huaca) mediante el test de Ames [PDF]

, 2008
El propósito del presente estudio fue evaluar la actividad mutagénica del extracto acuoso liofilizado (EAL) de las hojas de Clibadium surinamense L. (Huaca) por cultivo liquido en microplacas modificado por Gee et al.
Pereyra Mejía, Yoli Elizabeth, Dávila Del Castillo, Robert   +1 more
core  

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Evaluación del potencial genotóxico de fitoproductos autóctonos activos Contra Leishmania y Trypanosoma mediante el Test de Ames y el Ensayo Cometa

Actualidades Biológicas, 2006
La Leishmaniosis y la enfermedad de Chagas son causas de importantes morbilidad y mortalidad en Colombia y en países tropicales. Los tratamientos existentes son insatisfactorios mientras que la enorme biodiversidad en nustro medio aparece como una fuente
Juliana Navarro-Yepes, Angélica Bonilla-Iriarte, Andrea I. Trujillo-Correa, Lía C. Upegui-González   +3 more
doaj  

Leitfaden zum User-Testing des VR-Spiels "Navigation der Südsee" am 19.09.2019

, 2021
Dieses Arbeitspapier ist Teil der Online-Publikation von Dietmar Fuhrmann, Cristina Navarro und Josefine Otte "Mit der Zielgruppe testen! Wie Kinder im Museum mitgestalten. Eine Studie im Teilprojekt Visitor Journeys neu gedacht im Verbundprojekt museum4punkt0", entstanden im Verbundprojekt museum4punkt0 – Digitale Strategien für das Museum der Zukunft,
openaire   +2 more sources

Zein‐Based Adhesives: Sustainable Extraction and Application in Bioadhesive Technologies

Advanced Engineering Materials, EarlyView.
Zein is extracted from corn gluten meal using a simple and scalable process with high yield (~90%). The resulting protein is applied in bioadhesives modified with Ca2+ and Fe3+ ions, exhibiting substrate‐dependent adhesion. The findings demonstrate competitive bonding performance and highlight the role of ionic interactions in tuning adhesion ...
Paula Bertolino Sanvezzo, Daniela Winsley Valereto Friozi, Vinícius de Oliveira, Marcia Cristina Branciforti   +3 more
wiley   +1 more source

¿Nos encontramos frente a una nueva clase de mutagenos?

Revista de Química, 1990
El 1 ,3-dinitronaftaleno, previamente identificado en polvo ambiental, forma aductos covalentes con nucleótidos del DNA a temperatura ambiente fácilmente.
Oscar R. Cuyubamba, William Pryor, Barbara S. Shane, Giuseppe Squadrito   +3 more
doaj  

Fallzahlkorrektur bei Powerverlust durch Imbalancen der Blockrandomisation am Beispiel des t-Tests

, 2017
62. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS)
Muche, R, Rohlmann, F, Dreyhaupt, J
openaire   +2 more sources

Mutagenicity and antimutagenicity of six Brazilian Byrsonima species assessed by the Ames test

, 2014
Background: In various regions of Brazil, several species of the genus Byrsonima (Malpighiaceae) are widely used to treat gastrointestinal complications. This genus has about 150 species of shrubs and trees distributed over the entire Neotropical region.
Lívia Greghi Espanha, Resende, Flavia Aparecida [UNESP], Espanha, Livia Greghi [UNESP], Rone Aparecido De Grandis, Lima Neto, Jose de Sousa [UNESP], Lourdes Campaner dos Santos, Eliana Aparecida Varanda, Camargo, Mariana Santoro de [UNESP], Espanha, Livia Greghi, Lima Neto, Jose de Sousa, Boldrin, Paula Karina, Santos, Lourdes Campaner dos, Catarine Haidê Nogueira, Flávia Aparecida Resende, Paula Karina Boldrin, Santos, Lourdes Campaner dos [UNESP], Vilegas, Wagner, Varanda, Eliana Aparecida [UNESP], Wagner Vilegas, Resende, Flavia Aparecida, De Grandis, Rone Aparecido, Varanda, Eliana Aparecida, Mariana Santoro de Camargo, Camargo, Mariana Santoro de, Nogueira, Catarine Haide, Boldrin, Paula Karina [UNESP], José de Sousa Lima Neto, Nogueira, Catarine Haide [UNESP], De Grandis, Rone Aparecido [UNESP], Vilegas, Wagner [UNESP]   +29 more
core   +1 more source