Results 101 to 110 of about 35,482 (247)
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 morewiley +1 more sourceMonogenic causes of familial short stature
Frontiers in EndocrinologyGenetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Vit Neuman, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova +6 moredoaj +1 more sourceData‐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 morewiley +1 more sourceBiomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy
Movement Disorders, EarlyView.Abstract Background
Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari +27 morewiley +1 more sourceNeurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Movement Disorders, EarlyView.Abstract Background
SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective
We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech +24 morewiley +1 more sourceThe Finnish genetic heritage in 2022 – from diagnosis to translational research
Disease Models & Mechanisms, 2022 Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala +18 moredoaj +1 more sourceGENETIC CAUSES OF ARTHRITIS
Slovenska pediatrijaArthritis is a common reason for pediatric consultation, with a heterogeneous etiology ranging from trauma and infections to autoimmune disorders and genetically determined diseases, including inborn errors of immunity (IEI).Nina Emeršičdoaj +1 more sourceEx Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan +17 morewiley +1 more source
