Results 191 to 200 of about 9,461 (226)

Atypical case of Rett syndrome with concurrent <i>MECP2</i> gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. [PDF]

World J Clin Pediatr
Fadl-Elmula I, Abdel-Raheem SY, Khalid R.   +2 more
europepmc   +1 more source

Role of ubiquitin‑proteasome system in preeclampsia (Review). [PDF]

Mol Med Rep
Pei CZ, Song XX, Xu H, Baek KH.
europepmc   +1 more source

From Transcriptome to Therapy: The ncRNA Revolution in Neurodevelopmental Disorders. [PDF]

Brain Sci
Zhao J, Li S, Jin X.
europepmc   +1 more source

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A. [PDF]

J Hum Genet
Gunelson AM, Kim KS, Steigerwald CG, Segal D, Abreu NJ, Yi JJ.   +5 more
europepmc   +1 more source

Image 3_A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter.jpeg

Gautami R. Kelkar (22142509), Samantha R. Stuppy (22142512), Dilara Sen (22142515), Z. Begum Yagci (22142518), Linna Han (5153105), Lexi Land (22142521), Jessica K. Hartman (22142524), Albert J. Keung (2653708)   +7 more
openalex   +1 more source

Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome. [PDF]

Nat Commun
Nemoto A, Imaizumi K, Miya F, Hiroi Y, Yamada M, Ideno H, Saitoh S, Kosaki K, Okuno H, Okano H.   +9 more
europepmc   +1 more source

Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome. [PDF]

J Neurodev Disord
Fenton TA, Petkova SP, Adhikari A, Silverman JL.   +3 more
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

Small Molecule-Induced Alterations of Protein Polyubiquitination Revealed by Mass-Spectrometric Ubiquitome Analysis. [PDF]

Angew Chem Int Ed Engl
Führer S, Gallant K, Kaschani F, Kaiser M, Janning P, Waldmann H, Gersch M.   +6 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