Results 321 to 330 of about 1,842,746 (396)

Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2

Movement Disorders, EarlyView.
Abstract Background Bridge‐like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early‐onset neurodevelopmental and later‐onset neurodegenerative diseases, including movement disorders.
Sarah D. Neuman, Rajan S. Thakur, Scott J. Gratz, Kate M. O'Connor‐Giles, Arash Bashirullah   +4 more
wiley   +1 more source

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

Development of Moral Judgments in Impersonal and Personal Dilemmas in Autistic Spectrum Disorders from Childhood to Late Adolescence. [PDF]

J Autism Dev Disord
Labusch M, Perea M, Sahuquillo-Leal R, Bofill-Moscardó I, Carrasco-Tornero Á, Cañada-Pérez A, García-Blanco A.   +6 more
europepmc   +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

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

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

Tics as a Presenting Symptom in Catatonia

Movement Disorders Clinical Practice, EarlyView.
Lindsey M. Vogt, Nahid Iseyas, Ashley Warnock, Elia Abi‐Jaoude   +3 more
wiley   +1 more source

Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency

Movement Disorders Clinical Practice, EarlyView.
Claudio M. de Gusmao, Roser Pons, Ganesh H. Mochida, Laura Silveira‐Moriyama, Fernando Kok   +4 more
wiley   +1 more source

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The autistic spectrum

Child Care, 2018
It is a term that we hear regularly these days, but do we know what it really means, what range of behaviours it covers, and what we should look out for in the children in our care?
R. Martland
semanticscholar   +3 more sources