Results 141 to 150 of about 317,520 (268)
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 morewiley +1 more sourceCorrigendum to "Activation of GPR183 by 7α,25-dihydroxycholesterol induces behavioral hypersensitivity through mitogen-activated protein kinase and nuclear factor-κB". [PDF]
J Pharmacol Exp TherBraden K, Campolo M, Li Y, Chen Z, Doyle TM, Giancotti LA, Esposito E, Zhang J, Cuzzocrea S, Arnatt CK, Salvemini D. +10 moreeuropepmc +1 more sourceALDOA 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 morewiley +1 more sourceRNA 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 morewiley +1 more sourceMemory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives
Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente +10 morewiley +1 more sourceSplenectomy in β-thalassemia patients: Practices and risks in a nationwide study. [PDF]
HemasphereBenoit A, Pages J, Szepetowski S, Agouti I, Thuret I, Le Roux E, Badens C, Brousse V, NaThalY Network, Mathey C, Bey L, Lucchini MJ, Li Thio Te V, Garidi R, Garcon L, Orvain C, Brasme JF, Reynes C, Belloy M, Durin J, Alhindy O, Sabbagh L, Slama B, Sanchez A, Moulin A, Belgodere D, Benjemia L, Simon P, Oziol E, Aladjidi N, Huguenin Y, Jubert C, Forcade E, Duffau P, Maakaroun A, Lachenal F, Pegon C, Odievre MH, Petitdidier C, Atmani S, Raqbi F, Pondarre C, Youn J, Kamdem A, Bachir D, Bartolucci P, De Luna G, Habibi A, Fois E, Leblanc A, Dides PY, Makowski C, Armari C, Elenga N, Chantalat-Auger C, Driss F, Zenchri F, Guitton C, Jehanne M, Stoven C, Chaminade A, Gourdon S, Reguerre Y, Randriamalala E, Paumier-Bonjour V, Besancon-Bergelin A, Lambilliotte A, Bruno B, Gonzales F, Barbati M, Carpentier B, Piguet C, Touati M, Hot A, Barraco F, Cannas G, Virot E, Fort R, Ducoux G, Clavel HD, Kebaili K, Garnier N, Renard C, Bertrand Y, Peugnet AL, Halfon-Domenech C, Diakiesse J, Agbo-Kpati KP, Ravet N, Thuret I, Szepetowski S, Jean E, De Sainte Marie B, Meunier B, Faucher B, Muszlak M, Chamouine A, Garou A, Masserot-Lureau C, Schneider JM, Dorvaux V, Carassou P, Andriamihaja H, Lalande M, Mahe P, Sirvent A, Martinez PA, Bertchansky I, Eisenmann JC, Masseau A, Couec ML, Rialland F, Rohrlich PS, Baron-Joly S, Conde M, Dossier A, Brousse V, Yakouben K, Benkerrou M, Ithier G, Missud F, Dalle JH, Koehl B, Holvoet L, Ribeil JA, Joseph L, Cavazzana M, De Montalembert M, Neven B, Moshous D, Taylor M, Allali S, Varet B, Socie G, Xhaard A, De La Tour RP, Leblanc T, Boissel N, Robin M, Dhedin N, Girot R, Mattioni S, Lionnet F, Donadieu J, Leverger G, Fasola S, Arlet JB, Manoli C, Etienne-Julan M, Bernit E, Gellen-Dautremer J, Eyssette S, Blondin G, Pluchart C, Nimubona S, Bonneau J, Bayart S, Pertuisel S, Collet B, Detourmignies L, Machin J, Wemeau M, De Tourmigni L, Vannier JP, Filhon B, Dumesnil C, Lahary A, Schneider P, Ngo S, Malric A, Schoeny M, Berger C, Guichard I, Desbree A, Stephan JL, David A, Paillard C, Salmon A, Ame S, Gestas P, Besnard M, Castex MP, Plat-Wilson G, Cougoul P, Pasquet M, Serre J, Yvert M, Valentin JB, Duchene F, Mathieu S, Drouilly M, Detrait M, Pochon C, Phulpin A, Nathanson S. +194 moreeuropepmc +1 more sourceEarly Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann +23 morewiley +1 more sourceAuthor Correction: Magnetoreception in a freshwater ciliate arises from endosymbiosis. [PDF]
Nat CommunBolzoni R, Monteil CL, Alonso B, Bergot M, Chevrier DM, Godon C, Menguy N, Fouteau S, Da Cunha V, Skouri-Panet F, Pereiro E, Duverger A, Vallenet D, Cruaud C, Abreu F, Benzerara K, Lefevre CT. +16 moreeuropepmc +1 more source
