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There are 7086 results for: content related to: High frequency of GJA12 / GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease

  1. You have full text access to this OnlineOpen article
    Altered PLP1 splicing causes hypomyelination of early myelinating structures

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 6, June 2015, Pages: 648–661, Sietske H. Kevelam, Jennifer R. Taube, Rosalina M. L. van Spaendonk, Enrico Bertini, Karen Sperle, Mark Tarnopolsky, Davide Tonduti, Enza Maria Valente, Lorena Travaglini, Erik A. Sistermans, Geneviève Bernard, Coriene E. Catsman-Berrevoets, Clara D. M. van Karnebeek, John R. Østergaard, Richard L. Friederich, Mahmoud Fawzi Elsaid, Jolanda H. Schieving, Maja Tarailo-Graovac, Simona Orcesi, Marjan E. Steenweg, Carola G. M. van Berkel, Quinten Waisfisz, Truus E. M. Abbink, Marjo S. van der Knaap, Grace M. Hobson and Nicole I. Wolf

    Version of Record online : 1 MAY 2015, DOI: 10.1002/acn3.203

  2. You have free access to this content
    Pelizaeus–Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

    Pediatrics International

    Volume 56, Issue 5, October 2014, Pages: 659–666, Tomohiro Torii, Yuki Miyamoto, Junji Yamauchi and Akito Tanoue

    Version of Record online : 22 OCT 2014, DOI: 10.1111/ped.12450

  3. You have full text access to this OnlineOpen article
    Curcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 8, August 2015, Pages: 787–796, Dirk B. Epplen, Thomas Prukop, Tobias Nientiedt, Philipp Albrecht, Friederike A. Arlt, Ruth M. Stassart, Celia M. Kassmann, Axel Methner, Klaus-Armin Nave, Hauke B. Werner and Michael W. Sereda

    Version of Record online : 24 JUN 2015, DOI: 10.1002/acn3.219

  4. You have free access to this content
    Pelizaeus–Merzbacher disease as a chromosomal disorder

    Congenital Anomalies

    Volume 53, Issue 1, March 2013, Pages: 3–8, Toshiyuki Yamamoto and Keiko Shimojima

    Version of Record online : 11 MAR 2013, DOI: 10.1111/cga.12005

  5. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 1, 1 April 2003, Pages: 15–24, Karen Woodward, Maria Cundall, Rodger Palmer, Robert Surtees, Robin M. Winter and Sue Malcolm

    Version of Record online : 26 DEC 2002, DOI: 10.1002/ajmg.a.10103

  6. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

    Prenatal Diagnosis

    Volume 21, Issue 13, December 2001, Pages: 1133–1136, Ken Inoue, Makoto Kanai, Yuzo Tanabe, Takeo Kubota, Catherine D. Kashork, Keiko Wakui, Yoshimitsu Fukushima, James R. Lupski and Lisa G. Shaffer

    Version of Record online : 8 JAN 2002, DOI: 10.1002/pd.186

  7. PLP1 gene analysis in 88 patients with leukodystrophy

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 566–571, P Martínez-Montero, M Muñoz-Calero, E Vallespín, J Campistol, L Martorell, MJ Ruiz-Falcó, A Santana, R Pons, A Dinopoulos, C Sierra, J Nevado and J Molano

    Version of Record online : 11 MAR 2013, DOI: 10.1111/cge.12103

  8. Familial Pelizaeus–Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 6, June 2012, Pages: 494–498, Sophia Kitsiou-Tzeli, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Areti Syrmou, Krinio Giannikou, Stavros Sifakis, Periklis Makrythanasis and Maria Tzetis

    Version of Record online : 18 APR 2012, DOI: 10.1002/bdra.23015

  9. Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 532–541, CMB Carvalho, M Bartnik, D Pehlivan, P Fang, J Shen and JR Lupski

    Version of Record online : 20 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01716.x

  10. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 169–174, ACS Fonseca, A Bonaldi, SS Costa, MR Freitas, F Kok and AM Vianna-Morgante

    Version of Record online : 16 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01854.x

  11. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 748–752, Elka Miller, Elysa Widjaja, Daniel Nilsson, Grace Yoon, Brenda Banwell and Susan Blaser

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33305

  12. Mutation analysis of the M6b gene in patients with Pelizaeus–Merzbacher-like syndrome

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 156–158, Marco Henneke, Lars-Erik Wehner, Hans Christian Hennies, Natalie Preuß and Jutta Gärtner

    Version of Record online : 11 MAY 2004, DOI: 10.1002/ajmg.a.30068

  13. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations

    Human Mutation

    Volume 29, Issue 8, August 2008, Pages: 1028–1036, Marie-Noëlle Bonnet-Dupeyron, Patricia Combes, Paola Santander, Fabrice Cailloux, Odile Boespflug-Tanguy and Catherine Vaurs-Barrière

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20758

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    A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease

    Human Mutation

    Volume 17, Issue 2, February 2001, Page: 152, Grace M. Hobson, Deborah L. Stabley, Vicky L. Funanage and Harold G. Marks

    Version of Record online : 23 JAN 2001, DOI: 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P

  15. High-resolution diffusion tensor imaging of fixed brain in a mouse model of Pelizaeus–Merzbacher disease: comparison with quantitative measures of white matter pathology

    NMR in Biomedicine

    Volume 24, Issue 10, December 2011, Pages: 1369–1379, Torsten Ruest, William M. Holmes, Jennifer A. Barrie, Ian R. Griffiths, Thomas J. Anderson, Deborah Dewar and Julia M. Edgar

    Version of Record online : 24 MAR 2011, DOI: 10.1002/nbm.1700

  16. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 267–272, Roberta Biancheri, Serena Grossi, Stefano Regis, Andrea Rossi, Fabio Corsolini, Daniela Paola Rossi, Pietro Cavalli, Mariasavina Severino and Mirella Filocamo

    Version of Record online : 27 MAY 2013, DOI: 10.1111/cge.12154

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    Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease

    Human Mutation

    Volume 25, Issue 3, March 2005, Pages: 321–322, Christian A. Hübner, Ulrike Orth, Arne Senning, Cordula Steglich, Alfried Kohlschütter, Rudolf Korinthenberg and Andreas Gal

    Version of Record online : 14 FEB 2005, DOI: 10.1002/humu.9314

  18. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

    Prenatal Diagnosis

    Volume 25, Issue 13, 30 December 2005, Pages: 1188–1191, Jennifer A. Lee, Sau W. Cheung, Patricia A. Ward, Ken Inoue and James R. Lupski

    Version of Record online : 14 DEC 2005, DOI: 10.1002/pd.1308

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    Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

    Human Mutation

    Volume 27, Issue 1, January 2006, Pages: 69–77, Grace M. Hobson, Zhong Huang, Karen Sperle, Erik Sistermans, Peter K. Rogan, James Y. Garbern, Edwin Kolodny, Sakkubai Naidu and Franca Cambi

    Version of Record online : 14 NOV 2005, DOI: 10.1002/humu.20276

  20. Novel alternatively spliced endoplasmic reticulum retention signal in the cytoplasmic loop of Proteolipid Protein-1

    Journal of Neuroscience Research

    Volume 85, Issue 3, 15 February 2007, Pages: 471–478, Cherie Southwood, Kevin Olson, Chia-Yen Wu and Alexander Gow

    Version of Record online : 14 DEC 2006, DOI: 10.1002/jnr.21153