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A comprehensive atlas of E3 ubiquitin ligase mutations in neurological disorders
Protein ubiquitination is a posttranslational modification that plays an integral part in
mediating diverse cellular functions. The process of protein ubiquitination requires an …
mediating diverse cellular functions. The process of protein ubiquitination requires an …
Angelman syndrome: review of clinical and molecular aspects
“Angelman syndrome”(AS) is a neurodevelopmental disorder whose main features are
intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The …
intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The …
Neurologic manifestations of Angelman syndrome
RL Thibert, AM Larson, DT Hsieh, AR Raby… - Pediatric neurology, 2013 - Elsevier
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …
GABAergic neuron-specific loss of Ube3a causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility
Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder
associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) …
associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) …
Epilepsy in Angelman syndrome: a sco** review
Angelman Syndrome (AS) is characterized by severe developmental delays including
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …
[HTML][HTML] Angelman syndrome: from mouse models to therapy
The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or
duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome …
duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome …
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
J Duis, M Nespeca, J Summers, L Bird… - … Genetics & Genomic …, 2022 - Wiley Online Library
Background Angelman syndrome (AS) is a rare neurogenetic disorder present in
approximately 1/12,000 individuals and characterized by developmental delay, cognitive …
approximately 1/12,000 individuals and characterized by developmental delay, cognitive …
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis
Background Clinicians have qualitatively described rhythmic delta activity as a prominent
EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be …
EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be …
[HTML][HTML] Electrophysiological phenotype in Angelman syndrome differs between genotypes
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by
either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which …
either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which …
[HTML][HTML] Genotype–phenotype correlations in Angelman syndrome
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss
of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the …
of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the …