Results 111 to 120 of about 824,647 (268)

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Correction to “Alternatives to stabilization scenarios”

Geophysical Research Letters, 2012
D. J. Frame, D. A. Stone, P. A. Stott, M. R. Allen   +3 more
doaj   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, for the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry Investigators, David A. Cabral, Gaëlle Chédeville, Ciarán M. Duffy, Kerstin Gerhold, Jaime Guzman, Linda Hiraki, Adam M. Huber, Heinrike Schmeling, Natalie J. Shiff, Lori B. Tucker, Julie Barsalou, Daniah Basodan, Michelle Batthish, Roberta A. Berard, Nicholas Blanchette, Gilles Boire, Roxana Bolaria, Alessandra Bruns, David A. Cabral, Sarah Campillo, Tania Cellucci, Mercedes Chan, Gaëlle Chédeville, Amieleena Chhabra, Julie Couture, Paul Dancey, Jean‐Jacques De Bruycker, Erkan Demirkaya, Muhammed Dhalla, Ciarán M. Duffy, Talal El Tal, Tommy Gerschman, Jaime Guzman, Liane Heale, Julie Herrington, Kristin M. Houghton, Adan M. Huber, Andrea Human, Nicole Johnson, Roman Jurencak, Bianca Lang, Claire LeBlanc, Lillian Lim, Lily S. H. Lim, Nadia Luca, Jeanine McColl, Tara McGrath, Tamara McMillan, Megan McPherson, Paivi Miettunen, Kimberly Morishita, Honyan Ng, Jonathan Park, Jean‐Philippe Proulx‐Gauthier, Johannes Roth, Evelyn Rozenblyum, Dax G. Rumsey, Heinrike Schmeling, Rosie Scuccimarri, Gordon Soon, Rebeka Stevenson, Elizabeth Stringer, Herman Tam, Lori B. Tucker, Marinka Twilt, Ruud H. J. Verstegen, Karen Watanabe Duffy   +81 more
wiley   +1 more source

Application of a Novel Desirability of Outcome Ranking Endpoint Incorporating a Framework for Resistance Assessment and Microbiologic Evaluation in Antibiotic Trials: A Proof-of-Concept in a Post Hoc Analysis of the BALANCE Trial. [PDF]

Open Forum Infect Dis
Ong SWX, Patrikar A, Pinto R, Mahar RK, Rishu A, Davis JS, Fowler RA, Tong SYC, Daneman N.   +8 more
europepmc   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Regulatory mechanisms of two epiphytic cultivation modes of Cunninghamia lanceolata on growth, disease resistance and root-stem characteristics of Dendrobium devonianum. [PDF]

BMC Plant Biol
Sun C, Han Q, He X, Van Sam H, Fu W, Tang J, Zhang N.   +6 more
europepmc   +1 more source