Search Results

There are 9165 results for: content related to: Medical care of adolescents and women with Rett syndrome: An Italian study

  1. 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

  2. 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

  3. 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

  4. Aging in Rett syndrome: a longitudinal study

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 223–229, NSJ Halbach, EEJ Smeets, C Steinbusch, MA Maaskant, D van Waardenburg and LMG Curfs

    Version of Record online : 7 DEC 2012, DOI: 10.1111/cge.12063

  5. Brain metabolism in rett syndrome: Age, clinical, and genotype correlations

    Annals of Neurology

    Volume 65, Issue 1, January 2009, Pages: 90–97, Alena Horská, Luciano Farage, Genila Bibat, Lídia M. Nagae, Walter E. Kaufmann, Peter B. Barker and Sakkubai Naidu

    Version of Record online : 4 FEB 2009, DOI: 10.1002/ana.21562

  6. Social impairments in Rett syndrome: characteristics and relationship with clinical severity

    Journal of Intellectual Disability Research

    Volume 56, Issue 3, March 2012, Pages: 233–247, W. E. Kaufmann, E. Tierney, C. A. Rohde, M. C. Suarez-Pedraza, M. A. Clarke, C. F. Salorio, G. Bibat, I. Bukelis, D. Naram, D. C. Lanham and S. Naidu

    Version of Record online : 8 MAR 2011, DOI: 10.1111/j.1365-2788.2011.01404.x

  7. You have free access to this content
    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

  8. Rett syndrome: Revised diagnostic criteria and nomenclature

    Annals of Neurology

    Volume 68, Issue 6, December 2010, Pages: 944–950, Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus J. Clarke, Nadia Bahi-Buisson, Helen Leonard, Mark E. S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renieri, Peter Huppke, Alan K. Percy and for the RettSearch Consortium (Members listed in the Appendix)

    Version of Record online : 8 DEC 2010, DOI: 10.1002/ana.22124

  9. Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome

    Synapse

    Volume 66, Issue 6, June 2012, Pages: 471–482, James Robert Brašić, Genila Bibat, Anil Kumar, Yun Zhou, John Hilton, Marybeth E. Yablonski, Ahmet Semih Dogan, Maria Rita Guevara, Massoud Stephane, Michael Johnston, Dean Foster Wong and Sakkubai Naidu

    Version of Record online : 28 FEB 2012, DOI: 10.1002/syn.21515

  10. Investigation of Rett syndrome using pluripotent stem cells

    Journal of Cellular Biochemistry

    Volume 114, Issue 11, November 2013, Pages: 2446–2453, Rana Dajani, Sung-Eun Koo, Gareth J. Sullivan and In-Hyun Park

    Version of Record online : 12 SEP 2013, DOI: 10.1002/jcb.24597

  11. 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

  12. You have free access to this content
    Social-emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour

    Journal of Intellectual Disability Research

    Volume 60, Issue 1, January 2016, Pages: 43–53, V. Munde, C. Vlaskamp and A. ter Haar

    Version of Record online : 14 OCT 2015, DOI: 10.1111/jir.12233

  13. A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1493–1500, Rina Cianfaglione, Angus Clarke, Mike Kerr, Richard P. Hastings, Chris Oliver and David Felce

    Version of Record online : 28 MAR 2015, DOI: 10.1002/ajmg.a.37027

  14. 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

  15. You have free access to this content
    DXA measurements in rett syndrome reveal small bones with low bone mass

    Journal of Bone and Mineral Research

    Volume 26, Issue 9, September 2011, Pages: 2280–2286, Gitte Roende, Kirstine Ravn, Kathrine Fuglsang, Henrik Andersen, Jytte Bieber Nielsen, Karen Brøndum-Nielsen and Jens-Erik Beck Jensen

    Version of Record online : 19 AUG 2011, DOI: 10.1002/jbmr.423

  16. Aging in people with specific genetic syndromes: Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1925–1932, Nicky S.J. Halbach, Eric E.J. Smeets, Connie T.R.M. Schrander-Stumpel, Henny H.J. van Schrojenstein Lantman de Valk, Marian A. Maaskant and Leopold M.G. Curfs

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32361

  17. 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

  18. Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome

    Annals of Neurology

    Volume 54, Issue 2, August 2003, Pages: 206–218, Gabriele V. Ronnett, Donald Leopold, Xiaohe Cai, Kristen C. Hoffbuhr, Linda Moses, Eric P. Hoffman and Sakkubai Naidu

    Version of Record online : 23 SEP 2008, DOI: 10.1002/ana.10633

  19. You have free access to this content
    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

  20. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 116–126, B Schüle, DD Armstrong, H Vogel, A Oviedo and U Francke

    Version of Record online : 9 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01005.x