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There are 4154 results for: content related to: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

  1. Abnormal junctions and permeability of myelin in PMP22-deficient nerves

    Annals of Neurology

    Volume 75, Issue 2, February 2014, Pages: 255–265, Jiasong Guo, Leiming Wang, Yang Zhang, Jiawen Wu, Sezgi Arpag, Bo Hu, Beat A. Imhof, Xinxia Tian, Bruce D. Carter, Ueli Suter and Jun Li

    Article first published online : 20 FEB 2014, DOI: 10.1002/ana.24086

  2. An 8.5-kb segment of the PMP22 promoter responds to loss of axon signals during Wallerian degeneration, but does not respond to specific axonal signals during nerve regeneration

    Journal of Neuroscience Research

    Volume 80, Issue 1, 1 April 2005, Pages: 37–46, Wayel Orfali, Robert N. Nicholson, Marie-Christine Guiot, Alan C. Peterson and G. Jackson Snipes

    Article first published online : 18 FEB 2005, DOI: 10.1002/jnr.20425

  3. You have free access to this content
    Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 98–109, Davide Visigalli, Patrizio Castagnola, Giovanna Capodivento, Alessandro Geroldi, Emilia Bellone, Gianluigi Mancardi, Davide Pareyson, Angelo Schenone and Lucilla Nobbio

    Article first published online : 5 NOV 2015, DOI: 10.1002/humu.22921

  4. You have free access to this content
    Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage

    Journal of Neurochemistry

    Volume 110, Issue 3, August 2009, Pages: 935–946, Heiner Nattkämper, Hartmut Halfter, Mohammad R. Khazaei, Tina Lohmann, Burkhard Gess, Martin Eisenacher, Edith Willscher and Peter Young

    Article first published online : 31 MAY 2009, DOI: 10.1111/j.1471-4159.2009.06200.x

  5. 2015 Peripheral Nerve Society Biennial Meeting

    Journal of the Peripheral Nervous System

    Volume 20, Issue 2, June 2015, Pages: 88–253,

    Article first published online : 21 AUG 2015, DOI: 10.1111/jns.12129

  6. REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy

    Muscle & Nerve

    Volume 43, Issue 4, April 2011, Pages: 605–609, Burkhard Gess, Astrid Jeibmann, Anja Schirmacher, Ilka Kleffner, Matthias Schilling and Peter Young

    Article first published online : 17 FEB 2011, DOI: 10.1002/mus.21973

  7. Transgenic Mouse Models of CMT1A and HNPP

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 247–253, UELI SUTER and KLAUS-ARMIN NAVE

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08586.x

  8. You have full text access to this OnlineOpen article
    Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

    Brain and Behavior

    Volume 6, Issue 4, April 2016, Friederike Werheid, Hamid Azzedine, Eva Zwerenz, Ahmet Bozkurt, Marcus J. Moeller, Lilian Lin, Michael Mull, Martin Häusler, Jörg B. Schulz, Joachim Weis and Kristl G. Claeys

    Article first published online : 4 MAR 2016, DOI: 10.1002/brb3.451

  9. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2412–2416, Khalid Al-Thihli, Teresa Rudkin, Nancy Carson, Chantal Poulin, Serge Melançon and Vazken M. Der Kaloustian

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32456

  10. Overview of Hereditary Neuropathy with Liability to Pressure Palsies

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 14–21, PHILIP F. CHANCE

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08562.x

  11. Genetic epidemiology of Charcot–Marie–Tooth disease

    Acta Neurologica Scandinavica

    Volume 126, Issue s193, November 2012, Pages: iv–22, G. J. Braathen

    Article first published online : 29 OCT 2012, DOI: 10.1111/ane.12013

  12. The Anatomy and Cell Biology of Peripheral Myelin Protein-22

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 143–151, G. JACKSON SNIPES, WAYEL ORFALI, ANDREW FRASER, KATHLEEN DICKSON and JOSHUA COLBY

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08577.x

  13. You have free access to this content
    Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 34–43, S. Rudnik-Schöneborn, D. Tölle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Müller-Felber, U. Schara, K. von Au, D. Wieczorek, C. Bußmann and K. Zerres

    Article first published online : 29 APR 2015, DOI: 10.1111/cge.12594

  14. Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 389–396, P. De JONGHE, E. NELIS, V. TIMMERMAN, A. LÖFGREN, J-J. MARTIN and C. VAN BROECKHOVEN

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08600.x

  15. Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

    Muscle & Nerve

    Volume 52, Issue 5, November 2015, Pages: 905–908, Nivedita U. Jerath, John Kamholz, Tiffany Grider, Amy Harper, Andrea Swenson and Michael E. Shy

    Article first published online : 19 JUN 2015, DOI: 10.1002/mus.24713

  16. Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 136–139, Mourad Naïmi, Sandrine Tardieu, Christel Depienne, Merle Ruberg, Alexis Brice, Odile Dubourg and Eric LeGuern

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30790

  17. Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene

    Journal of Neuroscience Research

    Volume 65, Issue 6, 15 September 2001, Pages: 508–519, Mehreen Hai, Sanjay I. Bidichandani and Pragna I. Patel

    Article first published online : 31 AUG 2001, DOI: 10.1002/jnr.1181

  18. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population

    Journal of the Peripheral Nervous System

    Volume 19, Issue 4, December 2014, Pages: 292–298, Fiore Manganelli, Stefano Tozza, Chiara Pisciotta, Emilia Bellone, Rosa Iodice, Maria Nolano, Alessandro Geroldi, Simona Capponi, Paola Mandich and Lucio Santoro

    Article first published online : 8 FEB 2015, DOI: 10.1111/jns.12092

  19. Nerve Conduction Abnormalities and Neuromyotonia in Genetically Engineered Mouse Models of Human Hereditary Neuropathies

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 310–320, JÜRGEN ZIELASEK and KLAUS V. TOYKA

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08593.x

  20. New Vistas on the Pathomechanism of Charcot-Marie-Tooth and Related Peripheral Neuropathies

    Annals of the New York Academy of Sciences

    Volume 883, Issue 1, October 1999, Pages: 152–159, H. W. MÜLLER

    Article first published online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb08578.x