Results 261 to 270 of about 78,807 (341)
Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children
Movement Disorders, EarlyView.Abstract Background
Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez +16 morewiley +1 more sourceInterpretable Machine Learning for Cross‐Cohort Prediction of Motor Fluctuations in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
Motor fluctuations are a common complication in later stages of Parkinson's disease (PD) and significantly affect patients' quality of life. Robustly identifying risk and protective factors for this complication across distinct cohorts could lead to improved disease management.Rebecca Ting Jiin Loo, Lukas Pavelka, Graziella Mangone, Fouad Khoury, Marie Vidailhet, Jean‐Christophe Corvol, Rejko Krüger, Enrico Glaab, on behalf of the NCER‐PD Consortium, Geeta Acharya, Gloria Aguayo, Myriam Alexandre, Muhammad Ali, Wim Ammerlann, Giuseppe Arena, Michele Bassis, Roxane Batutu, Katy Beaumont, Sibylle Béchet, Guy Berchem, Alexandre Bisdorff, Ibrahim Boussaad, David Bouvier, Lorieza Castillo, Gessica Contesotto, Nancy De Bremaeker, Brian Dewitt, Nico Diederich, Rene Dondelinger, Nancy E. Ramia, Angelo Ferrari, Katrin Frauenknecht, Joëlle Fritz, Carlos Gamio, Manon Gantenbein, Piotr Gawron, Laura Georges, Soumyabrata Ghosh, Marijus Giraitis, Enrico Glaab, Martine Goergen, Elisa Gómez De Lope, Jérôme Graas, Mariella Graziano, Valentin Groues, Anne Grünewald, Gaël Hammot, Anne‐Marie Hanff, Linda Hansen, Michael Heneka, Estelle Henry, Margaux Henry, Sylvia Herbrink, Sascha Herzinger, Alexander Hundt, Nadine Jacoby, Sonja Jónsdóttir, Jochen Klucken, Olga Kofanova, Rejko Krüger, Pauline Lambert, Zied Landoulsi, Roseline Lentz, Ana Festas Lopes, Victoria Lorentz, Tainá M. Marques, Guilherme Marques, Patricia Martins Conde, Patrick May, Deborah Mcintyre, Chouaib Mediouni, Francoise Meisch, Alexia Mendibide, Myriam Menster, Maura Minelli, Michel Mittelbronn, Saïda Mtimet, Maeva Munsch, Romain Nati, Ulf Nehrbass, Sarah Nickels, Beatrice Nicolai, Jean‐Paul Nicolay, Maria Fernanda Niño Uribe, Fozia Noor, Clarissa P. C. Gomes, Sinthuja Pachchek, Claire Pauly, Laure Pauly, Lukas Pavelka, Magali Perquin, Achilleas Pexaras, Armin Rauschenberger, Rajesh Rawal, Dheeraj Reddy Bobbili, Lucie Remark, Ilsé Richard, Olivia Roland, Kirsten Roomp, Eduardo Rosales, Stefano Sapienza, Venkata Satagopam, Sabine Schmitz, Reinhard Schneider, Jens Schwamborn, Raquel Severino, Amir Sharify, Ruxandra Soare, Ekaterina Soboleva, Kate Sokolowska, Maud Theresine, Hermann Thien, Elodie Thiry, Rebecca Ting Jiin Loo, Johanna Trouet, Olena Tsurkalenko, Michel Vaillant, Carlos Vega, Liliana Vilas Boas, Paul Wilmes, Evi Wollscheid‐Lengeling, Gelani Zelimkhanov +121 morewiley +1 more sourceEarly‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
Movement Disorders, EarlyView.Abstract Background
Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk +21 morewiley +1 more source