Results 221 to 230 of about 1,892,811 (316)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Social media, adolescent mental health, and diet: a policy content analysis. [PDF]

BMC Public Health
Conway-Moore K, Blanchard L, Aguiar A, O'Mara J, Vlad I, Rutter H, Knai C.   +6 more
europepmc   +1 more source

Auditory Hyperresponsivity in Chronic Back Pain: A Randomized Controlled Trial of Pain Reprocessing Therapy

Annals of Neurology, EarlyView.
Objective Heightened sensitivity to noxious stimulation is a hallmark of chronic pain. Emerging evidence suggests heightened unpleasantness to non‐noxious (eg, auditory) aversive stimulation also characterizes chronic pain, but its magnitude, neural mechanisms, and treatment modifiability remain unknown.
Alina E. C. Panzel, Christian Büchel, Andrew Leroux, Tor D. Wager, Yoni K. Ashar   +4 more
wiley   +1 more source

Improving and sustaining adolescent access to primary care in a socioeconomically vulnerable urban community in Brazil: outcomes of a quality improvement initiative. [PDF]

BMJ Paediatr Open
Timbó de Paiva Neto F, Marques RG, Saad LDC, Palacio DDC, Borella AC, Arcos AR, Miranda RM, da Silva AM, Rodrigues MDS, Vernal S.   +9 more
europepmc   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Fragile Connectedness in Caregiver-Adolescent Relationships Confers Risk for Diminished Well-Being. [PDF]

Fam Process
Fosco GM, Coffey JK.
europepmc   +1 more source

A Synergistic Inhibitor Development Strategy Against Human UDP‐Galactose‐4‐Epimerase

Angewandte Chemie International Edition, EarlyView.
The epimerase GalE is crucial for the biosynthesis of cancer‐relevant O‐GalNAc glycans. Here, we employ orthogonal, structurally enabled small molecule fragment screens to yield both covalent and non‐covalent inhibitors against GalE within no more than 22 elaborated compounds.
William M. Browne, Jonathan Pettinger, Teresa Weckwerth, Andrew Purkiss, Sing Hei Lok, Louisa Penicaut, Roksana Ogrodowicz, Raveena Prema, Simone Kunzelmann, Chloe Roustan, Ganka Bineva‐Todd, Saskia Pieters, Francesca Zappacosta, Alfred E. Doherty, Isobel Oram, Christelle Soudy, Robert Quinlan, Joanna Redmond, Svend Kjaer, David House, Stephane Mouilleron, Jacob T. Bush, Benjamin Schumann   +22 more
wiley   +1 more source

Future Adaptations of Psychosocial Program for Indonesian Pregnant Adolescents: A Research Synthesis. [PDF]

Int J Womens Health
Ermiati E, Widiasih R, Aini FHQ, Srimurni NA.   +3 more
europepmc   +1 more source

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source

Behavioral Predictors of Adolescent Anxiety During Therapy Dog Interactions Within an Experimental Setting. [PDF]

Behav Sci (Basel)
Mason N, Dowling-Guyer S, Anderson EC, Mueller MK.   +3 more
europepmc   +1 more source