Results 151 to 160 of about 1,142,913 (203)

A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition. [PDF]

Proc Natl Acad Sci U S A
Myers LS, Christian SG, Simpson S, Sper R, Taylor C, Montes L, Jepp TBC, Ramos D, Schuller L, Konganti K, Friedeck W, Habib O, Hodge M, Taylor AJ, Coffell A, Schlafer A, Matt M, Revell B, Knight C, Cardona-Barreña C, Murphy WJ, Weeber EJ, Segal DJ, Anderson A, Nash KR, Silverman JL, Piedrahita JA, Dindot SV.   +27 more
europepmc   +1 more source

Gelastic spells in Angelman Syndrome, when laughter isn't funny. [PDF]

Epilepsy Behav Rep
Varughese N, Horn F, Carson RP.
europepmc   +1 more source

Prolonged Penile Erection in an Adolescent with Angelman Syndrome under Aripiperazole: A Case Report. [PDF]

Iran J Child Neurol
Hassanzadeh Rad A, Aminzadeh V.
europepmc   +1 more source

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects. [PDF]

Mol Autism
Milazzo C, Narayanan R, Badillo S, Wang S, Almand R, Monshouwer R, Tzouros M, Golling S, Mientjes E, Chamberlain S, Kremer T, Elgersma Y.   +11 more
europepmc   +1 more source

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures. [PDF]

Ann Child Neurol Soc
Chen Z, Garic D, Xu Y, Smith RG, Weisenfeld LAH, Kim SH, Styner MA, Piven J, Philpot BD, Hazlett HC, Shen MD.   +10 more
europepmc   +1 more source

Angelman Syndrome

, 2011
info:eu-repo/semantics ...
Dan, Bernard, Pelc, Karine
core   +5 more sources

Angelman syndrome

, 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
openaire   +3 more sources

Angelman syndrome: Consensus for diagnostic criteria

American Journal of Medical Genetics Part A, 1995
The Scientific and Research Advisory Committee of the Angelman Syndrome Foundation recently solicited input from scientists involved in the study of Angelman syndrome to establish consensus about the clinical pro- file and diagnostic criteria of Angelman
Joan Knoll, D J Driscoll, J Wagstaff
exaly   +2 more sources

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Epilepsy in Angelman’s Syndrome

Neuroscience and Behavioral Physiology, 2022
Angelman'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, K.Yu. Mukhin, G.V. Kuzmich, L.Yu. Glukhova, O.A. Pylayeva   +4 more
openaire   +2 more sources