Results 61 to 70 of about 117,949 (253)
Stochastic models of population extinction
, 2010 Theoretical ecologists have long sought to understand how the persistence of
populations depends on biotic and abiotic factors. Classical work showed that
demographic stochasticity causes the mean time to extinction to increase
exponentially with ...Meerson, Baruch, Ovaskainen, Otsocore +1 more sourceAdult Leigh Disease Without Failure to Thrive [PDF]
The Neurologist, 2011 Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of "adult LD." The clinical features of adult LD were quite different from those in infant or childhood cases. Here, we describe a normally developed patient with adult LD, who presented with spastic paraplegia that was followed several years later by acute ...Sakushima, Ken, Tsuji-Akimoto, Sachiko, Niino, Masaaki, Saitoh, Shinji, Yabe, Ichiro, Sasaki, Hidenao +5 moreopenaire +3 more sourcesLarge-scale analysis of disease pathways in the human interactome
, 2017 Discovering disease pathways, which can be defined as sets of proteins
associated with a given disease, is an important problem that has the potential
to provide clinically actionable insights for disease diagnosis, prognosis, and
treatment ...Agrawal, Monica, Leskovec, Jure, Zitnik, Marinka +2 morecore +1 more sourceMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genetics, 2015 Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss ...Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin +37 moredoaj +1 more sourceDiscordance of Dopaminergic Dysfunction and Subcortical Atrophy by α‐Synuclein Status in Sporadic and Genetic Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.Michael Tran Duong, Sandhitsu R. Das, Pulkit Khandelwal, Joaquin A. Vizcarra, Yue Li, Long Xie, Paul A. Yushkevich, Leslie M. Shaw, Jacob G. Dubroff, Parkinson's Progression Markers Initiative, Kenneth Marek, Shirley Lasch, Caroline Tanner, Tanya Simuni, Christopher Coffey, Karl Kieburtz, Renee Wilson, Brit Mollenhauer, Site Investigator, Douglas Galasko, Site Investigator, Tatiana Foroud, Lana Chahine, Andrew Siderowf, John Seibyl, Arthur Toga, Andrew Singleton, Daniel Weintraub, John Trojanowski, Leslie Shaw, Duygu Tosun‐Turgut, Kathleen Poston, Susan Bressman, Kalpana M. Merchant, Werner Poewe, Todd Sherer, Sohini Chowdhury, Mark Frasier, Catherine Kopil, Anna Naito, Vanessa Arnedo, Ray Dorsey, Cynthia Casaceli, Imaging Core, Nichole Daegele, Justin Albani1 Statistics Core, Chelsea Caspell‐Garcia, Liz Uribe, Eric Foster, Jeff Long, Nick Seedorff, Karen Crawford, Danielle Elise Smith, Paola Casalin, Giulia Malferrari, Cheryl Halter, David Russell, Stewart Factor, Penelope Hogarth, David Standaert, Amy Amara, Robert Hauser, Joseph Jankovic, Matthew Stern, Shu‐Ching Hu, Gretchen Todd, Rachel Saunders‐Pullman, Irene Richard, Marie H Saint‐Hilaire, Klaus Seppi, Holly Shill, Hubert Fernandez, Claudia Trenkwalder, Wolfgang Oertel, Daniela Berg, Kathrin Brockman, Isabel Wurster, Liana Rosenthal, Yen Tai, Nicola Pavese, Paolo Barone, Stuart Isaacson, Alberto Espay, Dominic Rowe, Melanie Brandabur, James Tetrud, Grace Liang, Alex Iranzo, Eduardo Tolosa, Karen Marder, Maria de Arriba Sanchez, Leonidis Stefanis, Maria Jose Marti, Javier Ruiz Martinez, Jean‐Christophe Corvol, Jan O Assly, Salima Brillman, Nir Giladi, Debra Smejdir, Julia Pelaggi, Farah Kausar, Linda Rees, Barbara Sommerfield, Madeline Cresswell, Courtney Blair, Karen Williams, Grace Zimmerman, Stephanie Guthrie, Ashlee Rawlins, Leigh Donharl, Christine Hunter, Baochan Tran, Abigail Darin, Carly Linder, Marne Baca, Heli Venkov, Cathi‐Ann Thomas, Raymond James, Beatrice Heim, Paul Deritis, Fabienne Sprenger, Deborah Raymond, Diana Willeke, Zoran Obradov, Jennifer Mule, Nancy Monahan, Katharina Gauss, Deborah Fontaine, Daniel Szpak, Arita McCoy, Becky Dunlop, Laura Marie Payne, Susan Ainscough, Lisbeth Carvajal, Rebecca Silverstein, Kristy Espay, Madelaine Ranola, Elisabet Mondragon Rezola, Helen Mejia Santana, Maria Stamelou, Alicia Garrido, Stephanie Carvalho, Anne Grete Kristiansen, Krista Specketer, Anat Mirlman, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Danna Jennings, Lawrence Slieker, Brian McBride, Colin Watson, Etienne Montagut, Zulfiqar Haider Sheikh, Baris Bingol, Remi Forrat, Pablo Sardi, Tanya Fischer, Alastair D. Reith, Jan Egebjerg, Lone Frydelund Larsen, Nathalie Breysse, Didier Meulien, Barbara Saba, Vera Kiyasova, Chris Min, Thomas McAvoy, Robert Umek, Philip Iredale, Jeremy Edgerton, Susan De Santi, Christian Czech, Frank Boess, Jeffrey Sevigny, Thomas Kremer, Igor Grachev, Kaplana Merchant, Andreja Avbersek, Pierandrea Muglia, Alexandra Stewart, Rene Prashad, Johannes Taucher, Andrew Siderowf, David A. Wolk, Ilya M. Nasrallah +186 morewiley +1 more sourceOccasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]
, 2020 The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R +6 morecore +1 more source