Results 41 to 50 of about 7,694 (137)

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory

Journal of Patient-Reported Outcomes
Aims Caregivers rate improved communication ability as one of the most desired outcomes for successful interventions for individuals with Angelman syndrome (AS). When measuring communication ability in clinical trials, the reliability of such measures is
Dandan Chen, Christina K. Zigler, Li Lin, Nicole Lucas, Molly McFatrich, Jennifer Panagoulias, Allyson Berent, Bryce B. Reeve   +7 more
doaj   +1 more source

R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Clinical Pathology, 2022
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +1 more source

MYCN Amplification in RB1‐Inactivated Retinoblastoma: Association With High‐Risk Features

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Background MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation. It has been suggested that retinoblastomas with MYCN amplification represent a distinct entity with more aggressive clinical behavior.
Kyriaki Papaioannou, Regina Kubica, Karen Fischhuber, Jasmin Beygo, Madlen Reschke, Petra Ritter‐Sovinz, Eva Biewald, Petra Ketteler, Dietmar Lohmann, Deniz Kanber   +9 more
wiley   +1 more source

A patogênese genética e molecular da síndrome de Angelman

Jornal Brasileiro de Psiquiatria, 2011
Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência ...
Angelica Francesca Maris, Alexis Trott
doaj   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Surgical extraction of a supernumerary tooth in a patient with Angelman syndrome - case report

Journal of Education, Health and Sport, 2020
The article discusses the problem of dental-occlusal disorders in patients with rare Angelman syndrome, based on the case report of an 8-year-old patient.
Małgorzata Lipczyńska-Lewandowska, Damian Chybicki, Gaja Torbicka, Michał Ceranka, Anna Janas-Naze   +4 more
doaj   +1 more source

Allele specific expression in Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Allele‐specific expression (ASE), preferential expression of one allele at a heterozygous locus, is implicated in various brain diseases but remains largely uncharacterized in Alzheimer's disease (AD). METHODS We performed a genome‐wide characterization of ASE variants across seven brain regions of 2,231 AD and Control patients ...
Zishan Wang, Delowar Hossain, Judy Jiaru Wang, Varun R. Subramaniam, Bin Zhang, Minghui Wang, Kuan‐lin Huang   +6 more
wiley   +1 more source