Results 101 to 110 of about 9,569 (209)
Refining the behavioural phenotype of Angelman syndrome
, 2014 Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning.
Heald, Mary Elizabeth
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A Drosophila model for Angelman syndrome
, 2008 Angelman syndrome is a neurological disorder whose symptoms include severe mental retardation, loss of motor coordination, and sleep disturbances. The disease is caused by a loss of function of UBE3A, which encodes a HECT-domain ubiquitin ligase.
Fischer, J. A. +6 more
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Autism in Angelman syndrome: a population-based study
, 1996 The aim of this study was to examine the prevalence of angelman syndrome in prepubertal school-aged children and analyze its comorbidity with autistic disorder.
Steffenburg, Ulf, +3 more
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EEG Patterns and Genotypes in Angelman Syndrome
, 2012 Researchers at the Children’s Hospital, Boston, other centers in the US, and Poznan University, Poland, prospectively analyzed EEGs from participants in the NIH Angelman Syndrome Natural History ...
J Gordon Millichap
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Frontiers in NeurologyImportanceMultidisciplinary clinics (MDCs) improve care for patients with complex, comorbid conditions through coordinated, team-based care. Despite their potential, MDCs remain underutilized and understudied in pediatric neurology, particularly for ...
Carole Bakhos +12 more
doaj +1 more source
, 2014 Angelman Syndrome (AS) is a neurogenetic disorder that is classically characterized by excessive laughter and a happy demeanor. Aggression, sleep disorders and epilepsy are other phenotypes associated with this disorder as well. Both happy and aggressive
Sorbara (Class of 2015), Stephanie
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Acta Médica Costarricense, 2004 Justificación y objetivo: El síndrome de Angelman, es un severo desorden neurológico. No existe ningún caso previamente reportado en el país. Método: Reportamos 2 niñas con sospecha clínica de padecer de síndrome de Angelman.
Marvin Midence Cerda, Roberto Brian Gago
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Molecular and Clinical Aspects of Angelman Syndrome
, 2011 The Angelman syndrome is caused by disruption of the <i>UBE3A</i> gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors ...
K. Buiting, C.A. Williams, A. Dagli
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Exploring an objective measure of overactivity in children with rare genetic syndromes
Journal of Neurodevelopmental DisordersBackground Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques ...
Rory O’Sullivan +10 more
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Egyptian Pediatric Association GazetteBackground Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by developmental delay, seizures, and a distinctive behavioral profile including frequent laughter and hyperactivity. Although neurological symptoms are typically emphasized,
Kamil Aleksander Sobieszek +1 more
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