Results 71 to 80 of about 957,013 (262)
Genotype-environment interaction of genotypes of cocoa in Mexico
Scientific ReportsAbstract Cacao (Theobroma cacao L.) production is significantly influenced by genotype-environment interactions, which affect key agronomic traits such as yield, fruit quality, and disease resistance. Despite advances in cacao breeding, one of the main challenges remains the identification of stable, high-performing clones that can adapt to ...Carlos Hugo Avendaño-Arrazate, Misael Martínez-Bolaños, Ana Laura Reyes-Reyes, Marco Aurelio Aragón-Magadán, Delfino Reyes-López, Fernando López-Morales +5 moreopenaire +3 more sourcesValue of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods
A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators +26 morewiley +1 more sourceA Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager +7 morewiley +1 more sourceDevelopmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya +11 morewiley +1 more sourceEpilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr. +3 morewiley +1 more sourceCracking 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 morewiley +1 more sourceCSF 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 morewiley +1 more sourceResponse prediction in chronic hepatitis C by assessment of IP-10 and IL28B-related single nucleotide polymorphisms [PDF]
, 2011 Background: High baseline levels of IP-10 predict a slower first phase decline in HCV RNA and a poor outcome following interferon/ribavirin therapy in patients with chronic hepatitis C.Askarieh Galia, Neumann, A.U. (Avidan), Söderholm, Jonas,, Magnus Lindh, Avidan U Neumann, Stephanie Bibert, Soderholm, J, Askarieh, Galia,, Romero, A. (Ana), Group, DITTO-HCV Study, Jean-Michel Pawlotsky, Lindh, M., Negro, F, Söderholm, J., Lindh, M, Missale, Gabriele, Lagging, Martin,, Askarieh, G., Haagmans, Bart L, Romero, Ana, Hellstrand, K. (Kristoffer), Bochud Pierre-Yves, Lagging, Martin, Romero, A, null null, Söderholm Jonas, Haagmans, Bart L., Neumann, AU (Avidan), Gabriele Missale, Ferrari, C., Negro, F., Pawlotsky, J.M., Lindh Magnus, Negro Francesco, Avidan U. Neumann, Pierre-Yves Bochud, Lindh, Magnus, Johan Westin, Zeuzem Stefan, Lindh, M. (Magnus), Missale Gabriele, Bochud, Pierre Yves, Bibert, S., Bochud, P.Y., Galia Askarieh, Lagging Martin, Ferrari Carlo, Bibert, Stephanie, Hellstrand, Kristoffer, Zeuzem, S., Neumann, Avidan U., Haagmans, B.L., DITTO-HCV Study Group, Neumann, A.U., Lindh, Magnus,, Francesco Negro, Westin, J., Söderholm, J. (Jonas), Zeuzem, S. (Stefan), Söderholm, Jonas, Ferrari, Carlo, Martin Lagging, Neumann Avidan U., Zeuzem, Stefan, Neumann, Avidan U, Zeuzem, S, Hellstrand Kristoffer, Westin, Johan, Bart L Haagmans, Romero, A., Lagging, M. (Martin), Hellstrand, K., Haagmans, Bart, Bibert Stephanie, Hellstrand, K, Bart L. Haagmans, Missale, G. (Gabriele), Pawlotsky, Jean Michel, Pawlotsky, Jean-Michel, Ferrari, C. (Carlo), Carlo Ferrari, Bochud, P-Y. (Pierre-Yves), Haagmans Bart L., Askarieh, G, Lagging, M., Missale, G., Stefan Zeuzem, Kristoffer Hellstrand, Ferrari, C, Westin, J. (Johan), Askarieh, Galia, Bibert, S, Lagging, M, Westin, Johan,, Hellstrand, Kristoffer,, Westin, J, Haagmans, B.L. (Bart), Romero Ana, Jonas Söderholm, Pawlotsky Jean-Michel, Westin Johan, Askarieh, G. (Galia), Negro, Francesco, Bochud, PY, Bochud, Pierre-Yves, Pawlotsky, JM, Pawlotsky, J-M. (Jean-Michel), Missale, G, Romero, Ana,, Ana Romero +109 morecore +1 more sourceSPG4 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 morewiley +1 more source