Results 311 to 320 of about 286,948 (392)

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase

Movement Disorders, EarlyView.
Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Georgi Krastev, Alice Saparov, Virginie Pichon, Marlène Malbos, Clarisse Scherer, Ivana Dzinovic, Matej Skorvanek, Robert Kopajtich, Holger Prokisch, Sara Silvaieh, Anna Grisold, Maria Mazurkiewicz‐Bełdzińska, Jean‐Madeleine de Sainte Agathe, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech   +21 more
wiley   +1 more source

Impact of occult spinal abnormalities on clinical outcomes in children with refractory constipation

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Rishi Bolia, Stephanie Lee, Sara Alremawi, Nikhil Thapar   +3 more
wiley   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source

Quality of Life of People With Neuromuscular Diseases: The Role of Stigma

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Stigma is thought to have a profound impact on quality of life (QoL) among people with neuromuscular diseases (NMD), but empirical evidence is limited. This study sought to explore associations of enacted stigma (social exclusion) and felt stigma (shame, fear of exclusion) with QoL.
Marion Sommers‐Spijkerman, Esther Kruitwagen‐van Reenen, Willeke Kruithof, Johanna M. A. Visser‐Meily, Eline Scholten, Anita Beelen   +5 more
wiley   +1 more source

A comprehensive review on adaptive plasticity and recovery mechanisms post‐acquired brain injury

Neuroprotection, EarlyView.
This figure illustrates the dynamic process of neurogenesis following brain injury, focusing on the roles of neural stem and progenitor cells at the injury site. Key mechanisms include axonal sprouting, synaptogenesis, dendritic remodeling, and brain‐derived neurotrophic factor signaling via TrkB receptors.
Ravi Kumar Rajan
wiley   +1 more source

Two Hundred Years of the Annals of the New York Academy of Sciences: A Bibliometric Overview

Natural Sciences, EarlyView.
Co‐occurrence of author keywords. ABSTRACT Founded in 1824, the Annals of the New York Academy of Sciences (ANYAS) is a distinguished international journal that embraces various scientific disciplines. In 2024, the journal marks its 200th anniversary.
Luciano Barcellos‐Paula, José M. Merigó, Anna M. Gil‐Lafuente   +2 more
wiley   +1 more source

Tic‐Talk: Voices on Tourette's Labelling

Movement Disorders Clinical Practice, EarlyView.
Giulia Raffaele, Osman Malik, Seonaid Anderson, Lauren Corcoran, Andreas Hartmann, Davide Martino, Nanette Mol Debes, Kirsten R. Müller‐Vahl, Christelle Nilles, Tamara Pringsheim, Sara Sopena, Natalia Szejko, Owen Tasmin, Kinga K. Tomczak, Tammy Hedderly   +14 more
wiley   +1 more source

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction SMARCA4 is a known susceptibility gene for malignant rhabdoid tumors (MRT) in children and small cell carcinoma of the ovary hypercalcemic type (SCCOHT) in young females and women. Recently, a novel association between germline SMARCA4 variants and predisposition to neuroblastoma was proposed.
Nienke van Engelen, Ronald. R. de Krijger, Michelle M. Kleisman, Lennart. A. Kester, Saskia M. J. Hopman, Mariette E. G. Kranendonk, Marijn A. Vermeulen, Carli Tops, Seok‐Young Kim, Hans Clevers, Kornelia Neveling, Roland. P. Kuiper, Marjolijn C. J. Jongmans   +12 more
wiley   +1 more source

Levodopa‐Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder

Movement Disorders Clinical Practice, EarlyView.
Hanin Algethami, Wei Kang Lim, David Chitayat, Ingrid Tein, Alfonso Fasano, Carolina Gorodetsky   +5 more
wiley   +1 more source