Results 131 to 140 of about 885,766 (304)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, EarlyView.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more sourceBehavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy
Annals of Neurology, EarlyView.Objective
Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.Yuyan Shen, Jaden Thomas, Xianhui Chen, Jaden Zelidon, Mariam Najeeb, Abigayle Hahn, Ping Zhang, Aaron Sathyanesan, Bin Gu +8 morewiley +1 more sourceNoradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy
The Anatomical Record, EarlyView.Abstract
Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Tasha K. Phillips, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar +16 morewiley +1 more sourceProyecciones del Grupo de Investigación en MuerteSúbita 20 añosdespués de sucreación/ Projections of the Research Group on Sudden Death 20 years after its foundation
CorSalud, 2015 Given the challenge posed by cardiovascular sudden death to healthcare systems worldwide, it is very important a multi- and interdisciplinary approach that integrates allmedical and non-medical aspects involved in its assistance.Luis A. Ochoa Montes, Daisy Ferrer Marrero, Nidia D. Tamayo Vicente, Mileidys González Lugo, Ernesto Vilches Izquierdo, Jonathan F. Quispe Santos, Yanelis Pernas Sánchez, Damary García Ones, Rafael E. Araujo González, Roberto Planas Bouly, Mercedes Morejón Melgares, Tayli López Tutusaus, Lianne Ramos Marrero +12 moredoaj Intraspecific variation of cochlear morphology in bowhead and beluga whales
The Anatomical Record, EarlyView.Abstract
The bony labyrinth of the petrosal bone, a distinctive feature of mammal skulls, is often identified in micro‐computed tomography imaging to infer species' physiological and ecological traits. When done as part of a comparative study, one individual specimen is normally considered representative of a species, and intraspecific variation is ...John Peacock, J. G. M. Thewissenwiley +1 more sourceFrom armadillos to sloths: Patterns and variations in xenarthran coronary anatomy
The Anatomical Record, EarlyView.Abstract
Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.Wilson Viotto‐Souza, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior +5 morewiley +1 more sourceA novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions
HeartRhythm Case Reports, 2022 Xiaozhi Gao, BS, Dan Ye, MD, Wei Zhou, MD, David J. Tester, BS, Michael J. Ackerman, MD, PhD, John R. Giudicessi, MD, PhD +5 moredoaj +1 more source
