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There are 26407 results for: content related to: Rett syndrome and long-term disorder profile

  1. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 2, 15 April 2003, Pages: 103–114, Linda S. Weaving, Sarah L. Williamson, Bruce Bennetts, Mark Davis, Carolyn J. Ellaway, Helen Leonard, Meow-Keong Thong, Martin Delatycki, Elizabeth M. Thompson, Nigel Laing and John Christodoulou

    Version of Record online : 25 NOV 2002, DOI: 10.1002/ajmg.a.10053

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    Synaptic plasticity and signaling in rett syndrome

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 178–196, Grazia Della Sala and Tommaso Pizzorusso

    Version of Record online : 20 OCT 2013, DOI: 10.1002/dneu.22114

  3. MECP2 deletions and genotype–phenotype correlation in Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2775–2784, Elisa Scala, Ilaria Longo, Federica Ottimo, Caterina Speciale, Katia Sampieri, Eleni Katzaki, Rosangela Artuso, Maria Antonietta Mencarelli, Tatiana D'Ambrogio, Giuseppina Vonella, Michele Zappella, Giuseppe Hayek, Agatino Battaglia, Francesca Mari, Alessandra Renieri and Francesca Ariani

    Version of Record online : 29 OCT 2007, DOI: 10.1002/ajmg.a.32002

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    MeCP2 deficiency is associated with impaired microtubule stability

    FEBS Letters

    Volume 587, Issue 2, January 16, 2013, Pages: 245–253, Chloé Delépine, Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 10 DEC 2012, DOI: 10.1016/j.febslet.2012.11.033

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    MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits

    Genes, Brain and Behavior

    Volume 12, Issue 7, October 2013, Pages: 732–740, L. R. Schaevitz, N. B. Gómez, D. P. Zhen and J. E. Berger-Sweeney

    Version of Record online : 26 AUG 2013, DOI: 10.1111/gbb.12070

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    Evidence for abnormal early development in a mouse model of Rett syndrome

    Genes, Brain and Behavior

    Volume 6, Issue 3, April 2007, Pages: 277–286, M. Santos, A. Silva-Fernandes, P. Oliveira, Nuno Sousa and Patrícia Maciel

    Version of Record online : 17 JUL 2006, DOI: 10.1111/j.1601-183X.2006.00258.x

  7. Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader-Willi Syndromes

    Standard Article

    Comprehensive Physiology

    Jorge Gallego

    Published Online : 1 JUL 2012, DOI: 10.1002/cphy.c100037

  8. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 136–138, Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone and Jutta Gärtner

    Version of Record online : 5 AUG 2005, DOI: 10.1002/ajmg.a.30764

  9. The role of oxidative stress in Rett syndrome: an overview

    Annals of the New York Academy of Sciences

    Volume 1259, Issue 1, July 2012, Pages: 121–135, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Thierry Durand, Giuseppe Valacchi, Lucia Ciccoli and Joussef Hayek

    Version of Record online : 3 JUL 2012, DOI: 10.1111/j.1749-6632.2012.06611.x

  10. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype–genotype correlations

    American Journal of Medical Genetics

    Volume 97, Issue 2, Summer 2000, Pages: 147–152, Ruthie E. Amir and Huda Y. Zoghbi

    Version of Record online : 28 NOV 2000, DOI: 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO;2-O

  11. Visual evoked potentials detect cortical processing deficits in Rett syndrome

    Annals of Neurology

    Volume 78, Issue 5, November 2015, Pages: 775–786, Jocelyn J. LeBlanc, Geneva DeGregorio, Eleonora Centofante, Vanessa K. Vogel-Farley, Katherine Barnes, Walter E. Kaufmann, Michela Fagiolini and Charles A. Nelson

    Version of Record online : 18 SEP 2015, DOI: 10.1002/ana.24513

  12. Rett syndrome: Of girls and mice—Lessons for regression in autism

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 10, Issue 2, May 2004, Pages: 154–158, Daniel G. Glaze

    Version of Record online : 7 SEP 2004, DOI: 10.1002/mrdd.20030

  13. Balanced X chromosome inactivation patterns in the Rett syndrome brain

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 164–168, Mona D. Shahbazian, Yaling Sun and Huda Y. Zoghbi

    Version of Record online : 29 MAY 2002, DOI: 10.1002/ajmg.10557

  14. Altered microtubule dynamics in Mecp2-deficient astrocytes

    Journal of Neuroscience Research

    Volume 90, Issue 5, May 2012, Pages: 990–998, Juliette Nectoux, Cedrick Florian, Chloe Delepine, Nadia Bahi-Buisson, Malik Khelfaoui, Sophie Reibel, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 18 JAN 2012, DOI: 10.1002/jnr.23001

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    Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome

    Genes, Brain and Behavior

    Volume 9, Issue 2, March 2010, Pages: 213–223, B. De Filippis, L. Ricceri and G. Laviola

    Version of Record online : 2 NOV 2009, DOI: 10.1111/j.1601-183X.2009.00551.x

  16. Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 2, 15 April 2004, Pages: 129–140, Carolyn Schanen, Elisa J.F. Houwink, Naghmeh Dorrani, Jane Lane, Ruth Everett, Alice Feng, Rita M. Cantor and Alan Percy

    Version of Record online : 24 OCT 2003, DOI: 10.1002/ajmg.a.20571

  17. Study of MECP2 gene in Rett syndrome variants and autistic girls

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 119B, Issue 1, 15 May 2003, Pages: 102–107, Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari and Alessandra Renieri

    Version of Record online : 6 JAN 2003, DOI: 10.1002/ajmg.b.10070

  18. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

    Human Mutation

    Volume 22, Issue 2, August 2003, Pages: 107–115, Gabriel Miltenberger-Miltenyi and Franco Laccone

    Version of Record online : 20 JUN 2003, DOI: 10.1002/humu.10243

  19. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2017–2025, Heather E. Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E. Kaufmann and Annapurna Poduri

    Version of Record online : 25 APR 2015, DOI: 10.1002/ajmg.a.37132

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    Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2-Null Mice

    The Anatomical Record

    Volume 294, Issue 10, October 2011, Pages: 1624–1634, Mary E. Blue, Walter E. Kaufmann, Joseph Bressler, Charlotte Eyring, Cliona O'driscoll, Sakkubai Naidu and Michael V. Johnston

    Version of Record online : 8 SEP 2011, DOI: 10.1002/ar.21380