Results 151 to 160 of about 49,880 (266)

Unmasking rare thalassemia variants through whole-exome sequencing in Huadu District, China: An observational study. [PDF]

Medicine (Baltimore)
Guowei R, Yan J, Jingxia X, Changlv J, Lihua Z, Bizhen Y, Jingnan B, Cuijin T, Yulan H, HaoHao L, Linhua J.   +10 more
europepmc   +1 more source

Sex Differences in Fall Frequency, Risk Factors, and Outcomes in Parkinson's Disease: A Cross‐Sectional Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Female sex is an independent fall risk factor in Parkinson's disease (PD), yet sex‐specific fall patterns remain unclear. Objectives To compare sex‐specific fall risk and outcomes across PD, prodromal alpha‐synucleinopathy (PAS), and healthy controls (HC); estimate fall frequency across PD progression; and assess how sex modifies ...
Joaquin A. Vizcarra, Kat Hefter, David‐Erick Lafontant, Michael Tran Duong, Ashkan Ertefaie, Brian Litt, Dani S. Bassett, Andrew Siderowf, The Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O’Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Emily Flagg, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Trevis Huff, Tatiana Foroud, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, John Seibyl, Kathleen Poston, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Bioinformatics Core, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Thomas Montine, Caroline Tanner, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Wolfgang Oertel, Njideka Okubadejo, Sarah O’Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H. Saint‐Hilaire, Neil Santos, Wesley Schlett, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita. Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O’Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli   +197 more
wiley   +1 more source

Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing. [PDF]

Hum Mutat
Zhuang J, Huang N, Chen YE, Lou H, Wang J, Fu W, Chen C.   +6 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A framework for evaluating implementation, impact, and cost-effectiveness of wastewater and environmental surveillance. [PDF]

Front Public Health
Willis HH, Williams AE, Popescu S, Roberts D, Coringrato E, Faherty LJ, Nascimento de Lima P, Zakaria S.   +7 more
europepmc   +1 more source

Artificial Intelligence for Identifying Tumor‐Reactive CD8+ T Cells: Biological Principles, Computational Advances, and Future Directions

Med Research, EarlyView.
This review details a three‐stage paradigm shift for tumor‐reactive CD8+ T‐cell identification: decoding transcriptomic states, deciphering clonal functional efficacy, and molecular‐level therapeutic TCR design. Addressing translational hurdles and generative AI “scientific blind spots”—such as missing catch bonds—we present a visionary roadmap.
Chao Yang, Yingying Sun, Yan Zhang, Yifen Shi, Zhiwen Shi   +4 more
wiley   +1 more source

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. [PDF]

Hum Genomics
Bolte A, Velmans C, Netzer C, Thimm E, Tuncel AT, Bürger F, Hiersche M, Betz C, Bolz HJ.   +8 more
europepmc   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Pre-Analytical and Analytical Challenges in Whole-Exome Sequencing of Formalin-Fixed Paraffin-Embedded Breast and Prostate Cancer Tissue: A Real-World Multicenter Study. [PDF]

Diagnostics (Basel)
Rosa ML, Bordignon C, Schuch JB, Baumont AC, Bessel M, Curzel GD, Cadore NA, Varela APM, Dos Santos GT, Andreis TF, Oliveira FH, Vasconcellos VF, Barros LAR, Souza CP, Barra WF, Louzeiro DLC, Notari A, de Menezes JJ, Liedke PER, Bertollo GA, Gongora ABL, Ascenco HG, Kowalski-Neto E, Oppermann CP, Werutsky G, Santos EM, Brandão FS, Freitas R, Nogueira-Rodrigues A, Mancini ALC, Rosa DD, Macedo GS.   +31 more
europepmc   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source