Results 131 to 140 of about 138,760 (232)
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Movement Disorders Clinical Practice, EarlyView.Abstract Background
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar +24 morewiley +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 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 sourceA Deep Learning Approach for Classifying Benign, Malignant, and Borderline Ovarian Tumors Using Convolutional Neural Networks and Generative Adversarial Networks. [PDF]
Med Sci (Basel)Giourga M, Petropoulos I, Stavros S, Potiris A, Goula K, Moustakli E, Papahliou AM, Daskalaki MA, Segou M, Rodolakis A, Daskalakis G, Domali E. +11 moreeuropepmc +1 more sourceIn Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease
Movement Disorders, EarlyView.Abstract Background
The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives
To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...Edoardo R. de Natale, Heather Wilson, Efstratios Karavasilis, Athanasia Liozidou, Chrisoula Kartanou, Georgios Velonakis, Jens Kuhle, Ioannis Zalonis, Georgia Karadima, Leonidas Stefanis, Georgios Koutsis, Marios Politis +11 morewiley +1 more sourceUnmasking Early Cardiac Fibrosis in Sarcoidosis: The Role of Plasma Aldosterone and Cardiac MRI. [PDF]
J Clin MedGiallafos E, Oikonomou E, Lama N, Katsanos S, Kolilekas L, Markozanes E, Pantoleon V, Zisimos K, Katsarou O, Theofilis P, Seitaridi G, Ilias I, Stratakos G, Kelekis N, Manali ED, Papiris S, Marinos G, Tsioufis K, Siasos G. +18 moreeuropepmc +1 more source
