Results 141 to 150 of about 49,880 (266)
Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study. [PDF]
Eur J PediatrWang B, Ji X, Wu F, Shen M, Zheng P, Feng S, Wu H, Li S, Liu A, Xie L, Zhang X, Chen Q. +11 moreeuropepmc +1 more sourceClinical Progression in Alpha‐Synuclein Positive LRRK2‐PD and Sporadic Parkinson's Disease: A Longitudinal Analysis
Movement Disorders Clinical Practice, EarlyView.Abstract Background
LRRK2‐Parkinson's disease (LRRK2‐PD) is biologically heterogeneous with approximately 30% lacking aggregated alpha synuclein (αSyn) in cerebrospinal fluid by seed amplification assay (SAA). Prior work has suggested slower progression in LRRK2‐PD compared to sporadic PD (sPD).Lucy A. Morse, Seung Ho Choi, Caroline Gochanour, David‐Erick Lafontant, Lana M. Chahine, Kalpana M. Merchant, Barbara Wendelberger, Tanya Simuni, The Parkinson's Progression Markers Initiative, Kenneth Marek, Tanya Simuni, Andrew Siderowf, Caroline Tanner, Thomas F. Tropea, Tatiana Foroud, Lana Chahine, Brit Mollenhauer, Kalpana Merchant, Douglas Galasko, Christopher Coffey, Kathleen Poston, Roseanne Dobkin, Ethan Brown, Roy Alcalay, Dan Weintraub, Emily Flagg, Kimberly Fabrizio, Susan Bressman, Cornelis Blauwendraat, Paola Casalin, Sonya Dumanis, Raymond James, Karl Kieburtz, Sneha Mantri, Werner Poewe, Michael Schwarzschild, John Seibyl1, David Standaert, Duygu Tosun‐Turgut, Sohini Chowdhury, Jamie Eberling, Mark Frasier, Leslie Kirsch, Katie Kopil, Maggie Kuhl, Alyssa O'Grady, Todd Sherer, Tawny Willson, Emily Flagg, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Christine Kohnen, Tatiana Foroud, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, Imaging Core, John Seibyl, Kathleen Poston, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Biologics Review Committee, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Genetics Core, Andrew Singleton, Pathology Core, Tatiana Foroud, Dirk Keene, Caroline Tanner, Ethan Brown, PPMI Online, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Sebastian Schade, Douglas Galasko, Anat Mirelman, Roy Alcalay, Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Evan Doll, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Aldazier Jakiran, Dominga Valentino, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Natalie Donkor, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby +224 morewiley +1 more sourcePhenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background
Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky +14 morewiley +1 more sourceProactive identification of candidates for newly approved targeted therapies using a clinical decision support program. [PDF]
OncologistFeldman R, Abdulla F, Hinton A, Hamrick J, Hill B, Fernandez J, Walton A, Shah N, Appleberry G, El Shawa H, Sheridan RL, Geist BM, Coleman J, Duncavage E, Arnal S, Vacirca J, Holloway J. +16 moreeuropepmc +1 more source
