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MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain. Nguyen MV, Du F, Felice CA, Shan X, Nigam A, Mandel G, Robinson JK, Ballas N
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The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity. Na ES, Nelson ED, Kavalali ET, Monteggia LM.
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What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Kilstrup-Nielsen C, Rusconi L, La Montanara P, Ciceri D, Bergo A, Bedogni F, Landsberger N
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Oxidative Burden And Mitochondrial Dysfunction In A Mouse Model Of Rett Syndrome. Großer E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Müller M
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Gene therapy and neurodevelopmental disorders. Gray SJ.
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Does microglial dysfunction play a role in autism and Rett syndrome? Maezawa I, Calafiore M, Wulff H, Jin LW.
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The role of oxidative stress in Rett syndrome: an overview. De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J.
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From the bench to bedside: Secondary spinal cord injury, ischemic penumbra after stroke, neural regulation of appetite, microglia in Rett syndrome, signaling pathways in peripheral nerve regeneration. Fong BM, Hauptman JS.
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Oxidative Burden And Mitochondrial Dysfunction In A Mouse Model Of Rett Syndrome Großer E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Müller M
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Microglia as modulators of cognition and neuropsychiatric disorders. Blank T, Prinz M.
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Rett Syndrome. Smeets EE, Pelc K, Dan B.
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Rett syndrome: basic features of visual processing-a pilot study of eye-tracking. Djukic A, Valicenti McDermott M, Mavrommatis K, Martins CL.
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Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A.
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Phosphorylation of Distinct Sites in MeCP2 Modifies Cofactor Associations and the Dynamics of Transcriptional Regulation. Gonzales ML, Adams S, Dunaway KW, Lasalle JM.
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Recent Publications related to Rett syndrome found on PubMed
Peripheral administration of brain-derived neurotrophic factor to Rett syndrome animal model: A possible approach for the treatment of Rett syndrome. Tsai SJ
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Nuclear Calcium Signaling controls Methyl-CpG-binding Protein 2 (MeCP2) Phosphorylation on Serine 421 following Synaptic Activity. Buchthal B, Lau D, Weiss U, Weislogel JM, Bading H.
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Insights into the Cellular and Molecular Contributions of MeCP2 Overexpression to Disease Pathophysiology. Taylor MM, Doshi S.
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Knock-down of methyl CpG-binding protein 2 (MeCP2) causes alterations in cell proliferation and nuclear lamins expression in mammalian cells. Babbio F, Castiglioni I, Cassina C, Gariboldi MB, Pistore C, Magnani E, Badaracco G, Monti E, Bonapace IM.
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Clinical characteristics of children with rett syndrome. Han ZA, Jeon HR, Kim SW, Park JY, Chung HJ.
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The neuropathological consequences of CDKL5 mutation. Paine SM, Munot P, Carmichael J, Das K, Weber MA, Prabhakar P, Jacques TS.
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The role of oxidative stress in Rett syndrome: an overview. De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J.
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From the bench to bedside: Secondary spinal cord injury, ischemic penumbra after stroke, neural regulation of appetite, microglia in Rett syndrome, signaling pathways in peripheral nerve regeneration. Fong BM, Hauptman JS.
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Microglia as modulators of cognition and neuropsychiatric disorders. Blank T, Prinz M.
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.
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Modeling neurodevelopmental disorders using human neurons. Chailangkarn T, Acab A, Muotri AR.
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Hand stereotypies distinguish Rett syndrome from autism disorder. Goldman S, Temudo T.
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Neonatal exposure to low dose corticosterone persistently modulates hippocampal mineralocorticoid receptor expression and improves locomotor/exploratory behaviour in a mouse model of Rett syndrome. De Filippis B, Ricceri L, Fuso A, Laviola G.
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Methyl CpG Binding Protein-2 in Intractable Temporal Lobe Epilepsy Patients and a Rat Model. Tao S, Yang X, Chen Y, Wang X, Xiao Z, Wang H, Wu Q, Wang X.
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Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J.
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Peculiarities in the gesturalrepertoire: An early marker for Rett syndrome? Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C.
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Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships. Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T.
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Adult Phenotypes in Angelman- and Rett-Like Syndromes. Willemsen MH, Rensen JH, van Schrojenstein-Lantman de Valk HM, Hamel BC, Kleefstra T.
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SIRT1-mediated deacetylation of MeCP2 contributes to BDNF expression. Zocchi L, Sassone-Corsi P.
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The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. Zweier M, Rauch A.
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FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Florian C, Bahi-Buisson N, Bienvenu T.
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Incontinence in Individuals with Rett Syndrome: A Comparative Study. Giesbers S, Didden R, Radstaake M, Korzilius H, von Gontard A, Lang R, Smeets E, Curfs LM.
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Investigation of modifier genes within copy number variations in Rett syndrome. Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.
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Treating hypoxia in a feeble breather with Rett syndrome. Julu PO, Witt Engerström I, Hansen S, Apartopoulos F, Engerström B.
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Clinical variability in early speech-language development in females with Rett syndrome. Budden S.
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Versatile toolbox for high throughput biochemical and functional studies with fluorescent fusion proteins. Pichler G, Jack A, Wolf P, Hake SB.
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Rett syndrome: genes, synapses, circuits, and therapeutics. Banerjee A, Castro J, Sur M.
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A case of diabetes mellitus associated with Rett syndrome. Akin L, Adal E, Akin MA, Kurtoglu S.
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Novel double deletions in the MECP2 gene in Tunisian Rett patient. Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F.
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Astrocytes and disease: a neurodevelopmental perspective. Molofsky AV, Krenick R, Ullian E, Tsai HH, Deneen B, Richardson WD, Barres BA, Rowitch DH.
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Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. Okabe Y, Takahashi T, Mitsumasu C, Kosai K, Tanaka E, Matsuishi T.
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Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. Todorov T, Todorova A, Motoescu C, Dimova P, Iancu D, Craiu D, Stoian D, Barbarii L, Bojinova V, Mitev V.
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Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Robinson L, Guy J, McKay L, Brockett E, Spike RC, Selfridge J, De Sousa D, Merusi C, Riedel G, Bird A, Cobb SR.
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Daily rhythmic behaviors and thermoregulatory patterns are disrupted in adult female MeCP2-deficient mice. Wither RG, Colic S, Wu C, Bardakjian BL, Zhang L, Eubanks JH.
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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.
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Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. Falsaperla R, Pavone L, Fichera M, Striano P, Pavone P.
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