Results 161 to 170 of about 1,558,933 (353)
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari +12 morewiley +1 more sourceUncropped western blot images.
Tingting Jiang (169999), Duo Su (9250131), Jing Ke (2111455), Xin Dai (152712), Maohua Wang (575862), Yan Wang (15435), Siyuan Zhan (3308118), Tao Zhong (501589), Jiazhong Guo (3308121), Li Li (14993), Honping Zhang (22486567), Linjie Wang (152532) +11 moreopenalex +2 more sourcesTOR3A represses type I interferon production and limits viral clearance during respiratory syncytial virus infection. [PDF]
Emerg Microbes InfectLi X, Chen Z, Wu M, Zhu P, Qiao G, Li J, Ye Y, Cai J, Zhou Y, Dai X, Wang Y, Li C, Huang J, Zhou J, Xu F, Tan C, Shao Y, Gao X, Hu J, Xu X, Dong C, Hao C, Yang Y, Zhang J. +23 moreeuropepmc +1 more sourceMorbidity and Mortality of Blood Stream Infections in Severely Burned Patients [PDF]
, 2009 Blot, Stijn, Brusselaers, Nele, Hoste, Eric, Monstrey, Stan, snoeij, t, Vogelaers, Dirk +5 morecore +1 more sourceComplementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh +17 morewiley +1 more sourceSIRT3-mediated deacetylation of FoxM1 prevents pulmonary fibrosis via modulating the activation of pulmonary fibroblasts. [PDF]
Redox BiolDong J, Wang L, Wei A, Lin J, Xuan Y, Jiao Z, Bai Y, Shi X, Zhang Z, Sun W, Wang T, Chen X. +11 moreeuropepmc +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 source
