Results 11 to 20 of about 9,569 (209)
Revista Información Científica, 2022 Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance ...
Daniela Abigail Cobo-Álvarez +2 more
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Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers’ survey [PDF]
Orphanet Journal of Rare DiseasesBackground Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe intellectual disability, seizures, and motor and speech impairments, requiring lifelong, intensive care.
Dariusz Walkowiak +4 more
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Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)
Zdorovʹe Rebenka, 2015 The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome.
O.Ye. Abaturov +2 more
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, 2013 Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy.
Edwin J. Weeber
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Crossing the finish line towards a disease-modifying treatment for Angelman syndrome [PDF]
Journal of Neurodevelopmental DisordersRecent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise ...
Matthew C. Judson +15 more
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Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment)
Zdorovʹe Rebenka, 2015 The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS). It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the ...
O.Ye. Abaturov +2 more
doaj +2 more sources
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey [PDF]
Orphanet Journal of Rare DiseasesBackground Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis +9 more
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Uncovering a Role for SK2 in Angelman Syndrome
Cell Reports, 2015 Angelman syndrome is a severe neurodevelopmental disorder caused by mutations in UBE3A. Sun et al. (2015) report SK2 as a UBE3A substrate and provide insight into the molecular mechanisms that might underlie impaired neuronal function in individuals ...
Sofia B. Lizarraga, Eric M. Morrow
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UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome [PDF]
Molecular AutismBackground Ubiquitin protein ligase E3A (UBE3A) regulates signaling pathways associated with autism spectrum disorders (ASDs). As an E3 ligase, UBE3A ubiquitinates and promotes the degradation of proteins crucial for regulating synaptic plasticity and ...
Xin Yang +2 more
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