Results 101 to 110 of about 840,733 (199)
Discordance 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 sourceInternational Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
Movement Disorders, EarlyView.Abstract Background
NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar +47 morewiley +1 more sourceClinical and Imaging Characteristics of Parkinson's Disease with Negative Alpha‐Synuclein Seed Amplification Assay
Movement Disorders, EarlyView.Abstract Background
The cerebrospinal fluid alpha‐synuclein seed amplification assay (CSFasynSAA) detects alpha‐synuclein aggregation in over 90% of individuals with sporadic PD (sPD). However, the clinical characteristics of sPD with negative CSFasynSAA remain undefined.Sarah M. Brooker, Jacopo Pasquini, Seung Ho Choi, David‐Erick Lafontant, Seyed‐Mohammad Fereshtehnejad, Yashar Zeighami, Piergiorgio Grillo, Giulietta M. Riboldi, Houman Azizi, Roqaie Moqadam, Un Jung Kang, Kelly N.H. Nudelman, Andrew Siderowf, Caroline M. Tanner, Thomas F. Tropea, Tatiana Foroud, Lana M. Chahine, Brit Mollenhauer, Kalpana M. Merchant, Douglas Galasko, Christopher S. Coffey, Roseanne D. Dobkin, Ethan G. Brown, Roy N. Alcalay, Daniel Weintraub, Kenneth Marek, Tanya Simuni, Paulina Gonzalez‐Latapi, Nicola Pavese, Kathleen L. Poston, the Parkinson's Progression Markers Initiative +30 morewiley +1 more sourcePlasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers
Movement Disorders, EarlyView.Abstract Background
GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay +7 morewiley +1 more sourceQuantitative Analysis of Locus Coeruleus Neurons and Thalamic Noradrenergic Axons in a Progressive 1‐Methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine Monkey Model of Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
Parkinson's disease is mainly characterized by dopaminergic neurodegeneration in the substantia nigra pars compacta (SNc) and α‐synuclein accumulation. The locus coeruleus (LC) is also affected in Parkinson's disease and linked to some nonmotor symptoms, but the extent and timing of its degeneration remain unclear.Megan Carrillo, Nagore Hernández‐Pinedo, Josefa Zaldivar‐Diez, Isabel Pérez‐Santos, José A. Obeso, Carmen Cavada, Javier Blesa +6 morewiley +1 more source
