Results 211 to 220 of about 647,560 (261)
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner +25 morewiley +1 more sourceDigital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman +9 morewiley +1 more sourceFactors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods
We analyzed U.S.Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth +9 morewiley +1 more sourcePromotion of long-term health in early life. [PDF]
Proc Natl Acad Sci U S AStocker M, Klingenberg C, Rogers JA, Patel N, Morgillo D, Peitler A, Christmann M, von Meyenn F, Domellöf M, Xu S, McDonald S, Brodin P, van Rossum EFC, van Rossum A, Bogaert D, Boucoiran I, Ronzoni S, Boes S, Lannen P, Pilgrim T, El Helou S. +20 moreeuropepmc +1 more sourceCharacterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu +8 morewiley +1 more sourceLong‐Term Neurologic Exam Findings in People Diagnosed and Treated During Acute HIV Infection
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Evaluate clinical and laboratory correlates of abnormal neurologic exam findings after acute HIV infection (AHI). Methods
Participants from the RV254/SEARCH 010 cohort in Bangkok underwent standardized neurologic examinations at Weeks 0 (AHI), 12, 96, and 288 following antiretroviral therapy (ART).Kathryn B. Holroyd, Tyler Hamby, Carlo Sacdalan, Somchai Sriplienchan, Pathariya Promensa, Luxenaree Poonpitak, Netsiri Dumrongpisutikul, Eugène Kroon, Sandhya Vasan, Robert Paul, Ferron O'Campo, Lydie Trautmann, Phillip Chan, Serena Spudich, on behalf of the RV254/SEARCH 010 Study Team, Julie Ake, Sandhya Vasan, Lydie Trautmann, Merlin Robb, Trevor Crowell, Donn Colby, Diane Bolton, Shelly Krebs, Leigh Ann Eller, Morgane Rolland, Rasmi Thomas, Dominic Paquin Proulx, Suteeraporn Pinyakorn, Tyler Hamby, Mark de Souza, Ellen Turk, Amber Moodley, Gerald Quarles, Jintanat Ananworanich, Denise Hsu, Victoria Polonis, Nelson Michael, Sheila Peel, COL Eric Garges, Alexandra Schuetz, Siriwat Akapirat, Bessara Nantapinit, Pornsuk Visudhiphan, Saowanit Getchalarat, Nampueng Churikanont, Sangsulee Thamakaison, Somchai Sriplienchan, Carlo Sacdalan, Pathariya Promsena, Luxe‐naree Poonpitak, Eugene Kroon, Nitiya Chomchey, Jintana Intasan, Varaporn Pothipala, Ferron Ocampo, Nittaya Phanuphak, Nipat Teeratakulpisan, Yuwaree Pichitchok, Anchalee Avihingsanon, Opass Putcharoen, Kiat Ruxrungtham, Thanyawee Puthanakit, Sopark Manasnayakorn, Phandee Watanaboonyongcharoen, Rungsun Rerknimitr, Irini Sereti, Daniel Douek, Eli Bortiz, Frank Maldarelli, Mary Kearney, Serena Spudich, Phillip Chan, Lishomwa Ndhlovu, Guinevere Li, Michael Corley, Victor Valcour, Peter Hunt, Jacob Estes, Afam Okoye, Jeff Lifson, Claire Deleage, Nicolas Chomont, Andres Finzi, Lyle McKinnon, Henrik Zetterberg, Robert Siliciano, Robert Paul, Julie Mannarino, Jonathan Li, John Mellors, Josh Cytkor, Dan Barouch, Michael Seaman, Boris Juelg, Alex Shalek, Timothy Schacker, Ashley Haase, Mario Stevenson, Wenjun Li, Arthur Kim, Sharon Lewin, Adam Carrico, Susana Valente, Fred Hutchinson, Josh Schiffer, Guido Ferrari, Beau Ances, Alberto Bosque, Katharine Bar, Killian Pohl, David Ho, Yaoxing Huang, Michael Busch, Mohamed Abdel‐Mohsen, Johanna Gostner, Brian Agan, Fatah Kashanchi, Greg Laird, Kathryn Holroyd +118 morewiley +1 more sourceCauses of stillbirth in sub-Saharan Africa and South Asia: Findings from Child Health and Mortality Prevention Surveillance, 2016-2023. [PDF]
PLOS Glob Public HealthRahman A, Lee KH, Arifeen SE, Hossain MZ, Chowdhury AI, Alam M, Afrin A, Ogbuanu IU, Samura S, Kaluma E, Ojulong J, Sow S, Keita AM, Tapia MD, Chawla KK, Kotloff K, Madhi SA, Mahtab S, Adam Y, Wise A, Dangor Z, Mugah C, Oele E, Omore R, Igunza AK, Onyango D, Mandomando I, Bassat Q, Ajanovic S, Varo R, Xerinda E, Assefa N, Scott JAG, Madrid L, Yeshi MM, Temesgen F, Liu L, Mutevedzi P, Blau DM, Akelo V, Breiman RF, Whitney CG, Gurley ES, CHAMPS Consortium. +43 moreeuropepmc +1 more source