Literature DB >> 7091188

The Angelman ("happy puppet") syndrome.

C A Williams, J L Frias.   

Abstract

We report studies of six patients with the Angelman "Happy Puppet" syndrome and compare the data with those from previous reports. The results confirm the classic findings of severe mental retardation, "puppet-like" gait, characteristic craniofacial abnormalities, and frequent episodes of laughter and suggest that this syndrome is more common than previously thought. Computerized axial tomographs of the brain demonstrating unilateral cerebellar atrophy in one patient constitute the first direct evidence of cerebellar abnormalities in this syndrome.

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Year:  1982        PMID: 7091188     DOI: 10.1002/ajmg.1320110411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  20 in total

1.  A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Authors:  Lynne M Bird; Wen-Hann Tan; Carlos A Bacino; Sarika U Peters; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; K Naga Mohan; Mark P Nespeca; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Arthur L Beaudet
Journal:  Am J Med Genet A       Date:  2011-10-14       Impact factor: 2.802

2.  Angelman's syndrome: a neuropathological study.

Authors:  T Kyriakides; L A Hallam; A Hockey; P Silberstein; B A Kakulas
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

4.  The 'happy puppet' syndrome of Angelman: review of the clinical features.

Authors:  S A Robb; K R Pohl; M Baraitser; J Wilson; E M Brett
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

Review 5.  Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature.

Authors:  A Dörries; H L Spohr; J Kunze
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

Review 6.  Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.

Authors:  Ece D Gamsiz; Laura N Sciarra; Abbie M Maguire; Matthew F Pescosolido; Laura I van Dyck; Eric M Morrow
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

Review 7.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

8.  Clinical-psychological characteristics of children with dysgenesis of the cerebellar vermis.

Authors:  M Yu Bobylova; A S Petrukhin; G N Dunaevskaya; S V Piliya; E S Il'ina
Journal:  Neurosci Behav Physiol       Date:  2007-10

9.  Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.

Authors:  Amanda J DuBose; Karen A Johnstone; Emily Y Smith; Ryan A E Hallett; James L Resnick
Journal:  Neurogenetics       Date:  2009-11-06       Impact factor: 2.660

10.  Angelman (happy puppet) syndrome in a girl and her brother.

Authors:  J A Fisher; J Burn; F W Alexander; D Gardner-Medwin
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

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