Results 141 to 150 of about 9,448 (189)

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

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

Gelastic spells in Angelman Syndrome, when laughter isn't funny. [PDF]

Epilepsy Behav Rep
Varughese N, Horn F, Carson RP.
europepmc   +1 more source

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry [PDF]

Pier Luigi Carriero, Rosalia Zangari, Eleonora Sfreddo, Arianna Ghirardi, Arrigo Schieppati, Tiziano Barbui, Francesco Biroli   +6 more
openalex   +1 more source

Outcomes After Tonsillectomy in Children With Angelman Syndrome. [PDF]

J Otolaryngol Head Neck Surg
Chopra M, Siu JM, Sell E, Summers J, Chiang J, Propst EJ, Pankiv E, Wolter NE.   +7 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

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

Correction: Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome

, 2013
Cong Cao, Mengia S. Rioult-Pedotti, Paolo Migani, Crystal J. Yu, Rakesh Kumar Tiwari, Keykavous Parang, Mark R. Spaller, Dennis J. Goebel, John Marshall   +8 more
openalex   +2 more sources

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