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Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome. [PDF]
J Neurodev DisordFenton TA +3 more
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Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients. [PDF]
HGG AdvFujimoto M +10 more
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Developmental milestones and daily living skills in individuals with Angelman syndrome. [PDF]
J Neurodev DisordSadhwani A +11 more
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Epigenetic editing alleviates Angelman syndrome phenotype in mice by unsilencing paternal Ube3a. [PDF]
Cell DiscovLiu Y +14 more
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A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing. [PDF]
Clin EpigeneticsHolthöfer L +8 more
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Epilepsy in Angelman’s Syndrome
Neuroscience and Behavioral Physiology, 2022Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy).47 patients with a genetically verified diagnosis of AS ...
M.Yu. Bobylova +4 more
openaire +2 more sources
2023
Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
+4 more sources
Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
+4 more sources
Current Problems in Pediatrics, 1995
The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
openaire +4 more sources
The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
openaire +4 more sources
The Neurologist, 2007
Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
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Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
openaire +2 more sources