Results 111 to 120 of about 9,448 (189)

Development of the Angelman syndrome video assessment: quantifying meaningful change. [PDF]

J Neurodev Disord
Sheehy KA, Leffler MG, Woods RJ, Komorowski R, Crean R, Zigler CK, Duis J, Boorom O, Brady N, DeValk L, Harris N, Sapp A, Woeber C, Sadhwani A, Tan WH, ASVA Delphi Panelists.   +15 more
europepmc   +1 more source

Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome. [PDF]

J Patient Rep Outcomes
Halpin SN, Hagenaar DA, Potter SN, van Wooning E, Gwaltney A, Mous SE, Wheeler AC.   +6 more
europepmc   +1 more source

Molecular aspects of Angelman Syndrome: Defining the new path forward. [PDF]

Biomol Biomed
Almeida JFM, Tonazzini I, Daniele S.
europepmc   +1 more source

Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome. [PDF]

J Intellect Disabil Res
Ten Hooven-Radstaake M, Herrman-Mous S, Sadhwani A, Wheeler A, DeRamus M, Dieleman G, Navis C, Legerstee J, Ten Hoopen L, van der Ende J, Okoniewski C, Hiruma L, ENCORE group, Rietman A.   +13 more
europepmc   +1 more source

Angelman Syndrome With Papillary Urothelial Carcinoma: An Unusual Initial Presentation and Two Recurrences. [PDF]

Cureus
Altwijri F, Almubadel O, Alateeq N, Alsaleh F, Jouma M, Elgaili El-Tiraifi A.   +5 more
europepmc   +1 more source

Dysfunction of the Autophagy System and MDM2-p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models. [PDF]

Int J Mol Sci
Martins de Almeida JF, Contestabile M, Tonazzini I, De Cesari C, Baroncelli L, Martini C, Daniele S.   +6 more
europepmc   +1 more source

PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation [PDF]

, 1999
Milen Velinov, Nan Zhong, W. Ted Brown, EdmundC. Jenkins   +3 more
openalex   +1 more source

Atypical alpha oscillatory EEG dynamics in children with Angelman syndrome. [PDF]

Neuroimage Clin
Dickinson AH, Bowen-Kauth MS, Shide JJ, Youngkin AE, Hosamane NS, McNair CA, Ryan DP, Chu CJ, Sidorov MS.   +8 more
europepmc   +1 more source

Angelman syndrome imprinting center encodes a transcriptional promoter [PDF]

, 2014
Michael W. Lewis, Jason O. Brant, Joseph M. Kramer, James I. Moss, Thomas P. Yang, Peter J. Hansen, R. Stanley Williams, James L. Resnick   +7 more
openalex   +1 more source

Cofilin Inhibition Ameliorates PIEZO2 and AMPA Dysfunction in a Mouse Model of Angelman Syndrome. [PDF]

J Neurosci
Romero LO, Bade M, Carrillo E, Paz-López S, Hasan SAM, Antonisamy WJ, Jayaraman V, Shah ZA, Vásquez V, Cordero-Morales JF.   +9 more
europepmc   +1 more source