Results 151 to 160 of about 9,569 (209)

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

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

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

Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome. [PDF]

Mov Disord Clin Pract
Carson RP, Riordan H, Short B, Davis T, Fang J, Giritharan A, Isaacs DA, Blackburn J, Aravamuthan B.   +8 more
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

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome. [PDF]

J Intellect Disabil Res
Merton C, Gwaltney A, Booman A, Potter SN, Wheeler AC, Barbieri-Welge RL, Horowitz LT, Hundley RJ, Bird LM, Tan WH, Sadhwani A.   +10 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

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling. [PDF]

Clin Genet
Hildonen M, Ferilli M, Krey I, Kohnen O, Cappelletti C, Platzer K, Ciolfi A, Jamra RA, Tartaglia M, Tümer Z.   +9 more
europepmc   +1 more source

A prodrug targeting CIM6P/IGF2R enhances memory in healthy mice and reverses deficits in an Angelman syndrome mouse model. [PDF]

Transl Psychiatry
Aria F, Arp CJ, Prikas E, Goodwin-Groen S, Pandey K, Munari L, Patel S, Trauner D, Alberini CM.   +8 more
europepmc   +1 more source

Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022). [PDF]

Am J Med Genet A
Gomes AT, Moore A, Cross M, Hardesty C, David K, Sampedro MG, Dube S, Weil-Chalker S, Montepagano AG, Christel U, Martin R, Wheeler A, Tan WH, Bird LM, Bichell TJ.   +14 more
europepmc   +1 more source