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Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.
J Intellect Disabil Res. 2020 Mar;64(3):246-250. doi: 10.1111/jir.12700. Epub 2019 Dec 19.
J Intellect Disabil Res. 2020.
PMID: 31854050
Free PMC article.
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA.
Tan WH, et al. Among authors: willen jm.
Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25.
Am J Med Genet A. 2018.
PMID: 28944563
Free PMC article.
Clinical Trial.
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Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
Sadhwani A, Sanjana NE, Willen JM, Calculator SN, Black ED, Bean LJH, Li H, Tan WH.
Sadhwani A, et al. Among authors: willen jm.
Am J Med Genet A. 2018 Jul;176(7):1641-1647. doi: 10.1002/ajmg.a.38831. Epub 2018 May 7.
Am J Med Genet A. 2018.
PMID: 29737008
Free PMC article.
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Maladaptive behaviors in individuals with Angelman syndrome.
Sadhwani A, Willen JM, LaVallee N, Stepanians M, Miller H, Peters SU, Barbieri-Welge RL, Horowitz LT, Noll LM, Hundley RJ, Bird LM, Tan WH.
Sadhwani A, et al. Among authors: willen jm.
Am J Med Genet A. 2019 Jun;179(6):983-992. doi: 10.1002/ajmg.a.61140. Epub 2019 Apr 3.
Am J Med Genet A. 2019.
PMID: 30942555
Free PMC article.
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