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Material Type: Artigo
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Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to StressFyffe, Sharyl L. ; Neul, Jeff L. ; Samaco, Rodney C. ; Chao, Hsiao-Tuan ; Ben-Shachar, Shay ; Moretti, Paolo ; McGill, Bryan E. ; Goulding, Evan H. ; Sullivan, Elinor ; Tecott, Laurence H. ; Zoghbi, Huda Y.Neuron (Cambridge, Mass.), 2008-09, Vol.59 (6), p.947-958 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Growth failure and outcome in Rett syndrome: Specific growth referencesTARQUINIO, Daniel Charles ; MOTIL, Kathleen J ; GEERTS, Suzanne P ; LANE, Jane B ; PERCY, Alan K ; WEI HOU ; LEE, Hye-Seung ; GLAZE, Daniel G ; SKINNER, Steven A ; NEUL, Jeff L ; ANNESE, Fran ; MCNAIR, Lauren ; BARRISH, Judy ONeurology, 2012-10, Vol.79 (16), p.1653-1661 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeWangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur Barsh, Gregory S.PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression ScaleNeul, Jeffrey L. ; Glaze, Daniel G. ; Percy, Alan K. ; Feyma, Tim ; Beisang, Arthur ; Dinh, Thuy ; Suter, Bernhard ; Anagnostou, Evdokia ; Snape, Mike ; Horrigan, Joseph ; Jones, Nancy E.Journal of child neurology, 2015-11, Vol.30 (13), p.1743-1748 [Periódico revisado por pares]Los Angeles, CA: SAGE PublicationsTexto completo disponível |
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Material Type: Artigo
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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: e1004258Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur ; Genomics, Center MendelianPLoS genetics, 2014-03, Vol.10 (3) [Periódico revisado por pares]San Francisco: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisationsZhang, Dajie ; Lang, Sigrun ; Wilken, Bernd ; Einspieler, Christa ; Neul, Jeffrey L. ; Bölte, Sven ; Holzinger, Daniel ; Freilinger, Michael ; Poustka, Luise ; Sigafoos, Jeff ; Marschik, Peter B.Research in developmental disabilities, 2023-07, Vol.138, p.104515-104515, Article 104515 [Periódico revisado por pares]United States: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Towards a consensus on developmental regressionZhang, Dajie ; Bedogni, Francesco ; Boterberg, Sofie ; Camfield, Carol ; Camfield, Peter ; Charman, Tony ; Curfs, Leopold ; Einspieler, Christa ; Esposito, Gianluca ; De Filippis, Bianca ; Goin-Kochel, Robin P. ; Höglinger, Günter U ; Holzinger, Daniel ; Iosif, Ana-Maria ; Lancioni, Giulio E. ; Landsberger, Nicoletta ; Laviola, Giovanni ; Marco, Eva M. ; Müller, Michael ; Neul, Jeffrey L. ; Nielsen-Saines, Karin ; Nordahl-Hansen, Anders ; O’Reilly, Mark F. ; Ozonoff, Sally ; Poustka, Luise ; Roeyers, Herbert ; Rankovic, Marija ; Sigafoos, Jeff ; Tammimies, Kristiina ; Townend, Gillian S ; Zwaigenbaum, Lonnie ; Zweckstetter, Markus ; Bölte, Sven ; Marschik, Peter BNeuroscience and biobehavioral reviews, 2019-12, Vol.107, p.3-5 [Periódico revisado por pares]United States: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Dihydroxyphenylisoindoline Amides as Orally Bioavailable Inhibitors of the Heat Shock Protein 90 (Hsp90) Molecular ChaperoneKung, Pei-Pei ; Huang, Buwen ; Zhang, Gang ; Zhou, Joe Zhongxiang ; Wang, Jeff ; Digits, Jennifer A ; Skaptason, Judith ; Yamazaki, Shinji ; Neul, David ; Zientek, Michael ; Elleraas, Jeff ; Mehta, Pramod ; Yin, Min-Jean ; Hickey, Michael J ; Gajiwala, Ketan S ; Rodgers, Caroline ; Davies, Jay F ; Gehring, Michael RJournal of medicinal chemistry, 2010-01, Vol.53 (1), p.499-503 [Periódico revisado por pares]Columbus, OH: American Chemical SocietyTexto completo disponível |
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Material Type: Artigo
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Towards a consensus on developmental regressionZhang, Dajie ; Bedogni, Francesco ; Boterberg, Sofie ; Camfield, Carol ; Camfield, Peter ; Charman, Tony ; Curfs, Leopold ; Einspieler, Christa ; Esposito, Gianluca ; De Filippis, Bianca ; Goin-Kochel, Robin P ; Höglinger, Günter U ; Holzinger, Daniel ; Iosif, Ana-Maria ; Lancioni, Giulio E ; Landsberger, Nicoletta ; Laviola, Giovanni ; Marco, Eva M ; Müller, Michael ; Neul, Jeffrey L ; Nielsen-Saines, Karin ; Nordahl-Hansen, Anders ; O'Reilly, Mark F ; Ozonoff, Sally ; Poustka, Luise ; Roeyers, Herbert ; Rankovic, Marija ; Sigafoos, Jeff ; Tammimies, Kristiina ; Townend, Gillian S ; Zwaigenbaum, Lonnie ; Zweckstetter, Markus ; Bölte, Sven ; Marschik, Peter BeScholarship, University of California 2019-12Sem texto completo |