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- [21] Angelman syndrome-derived neurons display late onset of paternal UBE3A silencingScientific Reports, 6Jana Stanurova论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Anika Neureiter论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Michaela Hiber论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Hannah de Oliveira Kessler论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Kristin Stolp论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Roman Goetzke论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Diana Klein论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Agnes Bankfalvi论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Hannes Klump论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,Laura Steenpass论文数: 0 引用数: 0 h-index: 0机构: Institute of Human Genetics,
- [22] Angelman syndrome-derived neurons display late onset of paternal UBE3A silencingSCIENTIFIC REPORTS, 2016, 6Stanurova, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyNeureiter, Anika论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Transfus Med, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyHiber, Michaela论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyKessler, Hannah de Oliveira论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Transfus Med, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyStolp, Kristin论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Transfus Med, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyGoetzke, Roman论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Helmholtz Inst Biomed Engn Stem Cell Biol & Cellu, Pauwelsstr 20, D-52074 Aachen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, Germany论文数: 引用数: h-index:机构:Bankfalvi, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Pathol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanyKlump, Hannes论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Transfus Med, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, GermanySteenpass, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Hufelandstr 55, D-45147 Essen, Germany
- [23] Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model miceJOURNAL OF CLINICAL INVESTIGATION, 2019, 129 (01): : 163 - 168Gu, Bin论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USACarstens, Kelly E.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA NIEHS, Neurobiol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAJudson, Matthew C.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USADalton, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Psychol & Neurosci Program, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USARougie, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAClark, Ellen P.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USADudek, Serena M.论文数: 0 引用数: 0 h-index: 0机构: NIEHS, Neurobiol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAPhilpot, Benjamin D.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27515 USA Univ N Carolina, UNC Neurosci Ctr, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA
- [24] Angelman syndrome: a novel UBE3A splice variantEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 320 - 320Williams, M. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Mater Res Inst, Woolloongabba, Qld, Australia Univ Queensland, Fac Med, St Lucia, Qld, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaHanna, B.论文数: 0 引用数: 0 h-index: 0机构: Westmead Hosp, Clin Genet, Westmead, NSW, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaFreckmann, M.论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Clin Genet, St Leonards, NSW, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaBommireddipalli, S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaBournazos, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaCooper, S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaHarraway, J.论文数: 0 引用数: 0 h-index: 0机构: Mater Pathol, South Brisbane, Qld, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaDawson, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Mater Res Inst, Woolloongabba, Qld, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, AustraliaHeussler, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Mater Res Inst, Woolloongabba, Qld, Australia Univ Queensland, Fac Med, St Lucia, Qld, Australia Queensland Childrens Hosp, Child Dev, South Brisbane, Qld, Australia Univ Queensland, Mater Res Inst, Woolloongabba, Qld, Australia
- [25] Unsilencing dormant Ube3a—hope for Angelman syndrome?Nature Reviews Neurology, 2012, 8 (2) : 62 - 62Katy Malpass论文数: 0 引用数: 0 h-index: 0
- [26] Mutation analysis of UBE3A in Angelman syndrome patientsAMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) : 1353 - 1360Malzac, P论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAWebber, H论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAMoncla, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAGraham, JM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAKukolich, M论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAWilliams, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAPagon, RA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USARamsdell, LA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAKishino, T论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAWagstaff, J论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USA
- [27] Mutation Update for UBE3A Variants in Angelman SyndromeHUMAN MUTATION, 2014, 35 (12) : 1407 - 1417Sadikovic, Bekim论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaFernandes, Priscilla论文数: 0 引用数: 0 h-index: 0机构: Myriad Genet, Salt Lake City, UT USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaZhang, Victor Wei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaWard, Patricia A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaMiloslavskaya, Irene论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaRhead, William论文数: 0 引用数: 0 h-index: 0机构: Med Coll Milwaukee, Pediat & Pathol Milwaukee, Milwaukee, WI USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaRosenbaum, Richard论文数: 0 引用数: 0 h-index: 0机构: Littleton Pediat Med Ctr, Highlands Ranch, CO USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaGin, Robert论文数: 0 引用数: 0 h-index: 0机构: Littleton Pediat Med Ctr, Highlands Ranch, CO USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaRoa, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Myriad Genet, Salt Lake City, UT USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, CanadaFang, Ping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada
- [28] Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of the Ube3a GeneCELLS, 2022, 11 (18)Syding, Linn Amanda论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicKubik-Zahorodna, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicNickl, Petr论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicNovosadova, Vendula论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicKopkanova, Jana论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicKasparek, Petr论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicProchazka, Jan论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech RepublicSedlacek, Radislav论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Czech Ctr Phenogen, Inst Mol Genet, Vestec 25250, Czech Republic Czech Acad Sci, Lab Transgen Models Dis, Inst Mol Genet, Vestec 25250, Czech Republic
- [29] Ube3a unsilencer for the potential treatment of Angelman syndromeNATURE COMMUNICATIONS, 2024, 15 (01)Vihma, Hanna论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USALi, Kelin论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, UNC Eshelman Sch Pharm, Div Chem Biol & Med Chem, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USAWelton-Arndt, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Chem, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USASmith, Audrey L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USABettadapur, Kiran R.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USAGilmore, Rachel B.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Sch Med, Dept Genet & Genome Sci, Farmington, CT USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USAGao, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USACotney, Justin L.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Sch Med, Dept Genet & Genome Sci, Farmington, CT USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USAHuang, Hsueh-Cheng论文数: 0 引用数: 0 h-index: 0机构: Deerfield Management, Deerfield Discovery & Dev, New York, NY USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USACollins, Jon L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Off Vice Chancellor Res, Chapel Hill, NC USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USAChamberlain, Stormy J.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Sch Med, Dept Genet & Genome Sci, Farmington, CT USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USALee, Hyeong-Min论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Med Univ South Carolina, Hollings Canc Ctr, Dept Biochem & Mol Biol, Charleston, SC 29425 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA论文数: 引用数: h-index:机构:Philpot, Benjamin D.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Carolina Inst Dev Disabil, Neurosci Ctr, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA
- [30] Unmuting Ube3a in mice alleviates Angelman syndromeNature Reviews Neurology, 2015, 11 (2) : 66 - 66Hemi Malkki论文数: 0 引用数: 0 h-index: 0