Results 111 to 120 of about 7,634 (165)

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

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

Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items. [PDF]

Orphanet J Rare Dis
Halpin SN, Potter SN, Gwaltney A, Sadhwani A, Okoniewski KC, Wheeler AC.   +5 more
europepmc   +1 more source

A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal <i>UBE3A</i> reporter. [PDF]

Front Cell Dev Biol
Kelkar GR, Stuppy SR, Sen D, Yagci ZB, Han L, Land L, Hartman JK, Keung AJ.   +7 more
europepmc   +1 more source

Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls. [PDF]

Orphanet J Rare Dis
Gschwind L, Holst SC, Nobbs D, Lipsmeier F, Buzasi K, Boonsimma P, Rotenberg A, Kolodyazhniy V, Hipp JF.   +8 more
europepmc   +1 more source

Ube3a unsilencer for the potential treatment of Angelman syndrome. [PDF]

Nat Commun
Vihma H, Li K, Welton-Arndt A, Smith AL, Bettadapur KR, Gilmore RB, Gao E, Cotney JL, Huang HC, Collins JL, Chamberlain SJ, Lee HM, Aubé J, Philpot BD.   +13 more
europepmc   +1 more source

Activity-dependent degradation of Kv4.2 contributes to synaptic plasticity and behavior in Angelman syndrome model mice. [PDF]

Cell Rep
Hu JH, Malloy C, Liu Y, Park JM, Pratt A, Welch M, Murphy JG, Abebe D, Karlsson RM, Cameron HA, Hoffman DA.   +10 more
europepmc   +1 more source

Successful use of cannabidiol in nonconvulsive status epilepticus in Angelman syndrome. [PDF]

Epilepsia Open
Pietrafusa N, De Palma L, Armando M, Corsetti T, Vigevano F, Specchio N.   +5 more
europepmc   +1 more source

Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome. [PDF]

Curr Opin Neurobiol
Krzeski JC, Judson MC, Philpot BD.
europepmc   +1 more source