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There are 4220 results for: content related to: A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia

  1. Assessment of myelination in hypomyelinating disorders by quantitative MRI

    Journal of Magnetic Resonance Imaging

    Volume 36, Issue 6, December 2012, Pages: 1329–1338, Steffi F. Dreha-Kulaczewski, Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner and G. Helms

    Version of Record online : 21 AUG 2012, DOI: 10.1002/jmri.23774

  2. Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 293–304, A. Charzewska, J. Wierzba, E. Iżycka-Świeszewska, M. Bekiesińska-Figatowska, M. Jurek, A. Gintowt, A. Kłosowska, J. Bal and D. Hoffman-Zacharska

    Version of Record online : 17 JUN 2016, DOI: 10.1111/cge.12811

  3. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus–Merzbacher-like disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 2, 5 March 2009, Pages: 226–232, Nico Ruf and Birgit Uhlenberg

    Version of Record online : 2 JUN 2008, DOI: 10.1002/ajmg.b.30792

  4. 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

  5. Assessment of myelination in hypomyelinating disorders by quantitative MRI

    Journal of Magnetic Resonance Imaging

    Volume 36, Issue 6, December 2012, Page: spcone, Steffi F. Dreha-Kulaczewski, Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner and G. Helms

    Version of Record online : 16 NOV 2012, DOI: 10.1002/jmri.23557

  6. Phenotypic characterization of hypomyelination and congenital cataract

    Annals of Neurology

    Volume 62, Issue 2, August 2007, Pages: 121–127, Roberta Biancheri, Federico Zara, Claudio Bruno, Andrea Rossi, Laura Bordo, Elisabetta Gazzerro, Federica Sotgia, Marina Pedemonte, Sara Scapolan, Massimo Bado, Graziella Uziel, Marianna Bugiani, Laura Doria Lamba, Valeria Costa, Angelo Schenone, Annemieke J. M. Rozemuller, Paolo Tortori-Donati, Michael P. Lisanti, Marjo S. van der Knaap and Carlo Minetti

    Version of Record online : 7 AUG 2007, DOI: 10.1002/ana.21175

  7. 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

  8. Demyelinating prenatal and infantile developmental neuropathies

    Journal of the Peripheral Nervous System

    Volume 17, Issue 1, March 2012, Pages: 32–52, Eppie M. Yiu and Monique M. Ryan

    Version of Record online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00379.x

  9. 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

  10. You have free access to this content
    Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease

    STEM CELLS

    Volume 35, Issue 2, February 2017, Pages: 311–315, M. Joana Osorio, David H. Rowitch, Paul Tesar, Marius Wernig, Martha S. Windrem and Steven A. Goldman

    Version of Record online : 23 NOV 2016, DOI: 10.1002/stem.2530

  11. Mutations in RARS cause hypomyelination

    Annals of Neurology

    Volume 76, Issue 1, July 2014, Pages: 134–139, Nicole I. Wolf, Gajja S. Salomons, Richard J. Rodenburg, Petra J. W. Pouwels, Jolanda H. Schieving, Terry G. J. Derks, Johanna M. Fock, Patrick Rump, Daphne M. van Beek, Marjo S. van der Knaap and Quinten Waisfisz

    Version of Record online : 16 MAY 2014, DOI: 10.1002/ana.24167

  12. 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

  13. You have full text access to this OnlineOpen article
    Hypomyelinating leukodystrophies: Translational research progress and prospects

    Annals of Neurology

    Volume 76, Issue 1, July 2014, Pages: 5–19, Petra J. W. Pouwels, Adeline Vanderver, Genevieve Bernard, Nicole I. Wolf, Steffi F. Dreha-Kulczewksi, Sean C. L. Deoni, Enrico Bertini, Alfried Kohlschütter, William Richardson, Charles ffrench-Constant, Wolfgang Köhler, David Rowitch and A. James Barkovich

    Version of Record online : 24 JUN 2014, DOI: 10.1002/ana.24194

  14. Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus–Merzbacher-like leukodystrophy

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 3, 5 April 2007, Pages: 365–366, Nico Ruf, Mara Martelli, Bernhard Weschke and Birgit Uhlenberg

    Version of Record online : 14 DEC 2006, DOI: 10.1002/ajmg.b.30434

  15. Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

    Movement Disorders

    Volume 22, Issue 2, 15 January 2007, Pages: 226–230, Lubov Blumkin, Dorit Lev, Nathan Watemberg and Tally Lerman-Sagie

    Version of Record online : 5 DEC 2006, DOI: 10.1002/mds.21277

  16. Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 147B, Issue 4, 5 June 2008, Pages: 538–539, Marie-Noelle Bonnet-Dupeyron, Patricia Combes, Odile Boespflug-Tanguy and Catherine Vaurs-Barrière

    Version of Record online : 4 OCT 2007, DOI: 10.1002/ajmg.b.30613

  17. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter[RIGHTWARDS ARROW]q24::q21.32[RIGHTWARDS ARROW]qter) and random X inactivation

    American Journal of Medical Genetics

    Volume 72, Issue 3, 31 October 1997, Pages: 329–334, Romeo Carrozzo, Giulia Arrigo, Elena Rossi, Barbara Bardoni, Marina Cammarata, Paolo Gandullia, Rosanna Gatti and Orsetta Zuffardi

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V

  18. Inborn Errors of Metabolism Presenting in Childhood

    Journal of Neuroimaging

    Volume 21, Issue 2, April 2011, Pages: e117–e133, Banu Cakir, Mehmet Teksam, Dilek Kosehan, Kayihan Akin and Asli Koktener

    Version of Record online : 24 MAR 2011, DOI: 10.1111/j.1552-6569.2011.00575.x

    Corrected by:

    Erratum

    Vol. 21, Issue 3, 306, Version of Record online: 27 JUN 2011

  19. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

    Movement Disorders

    Volume 30, Issue 6, May 2015, Pages: 828–833, Roberto Erro, Joshua Hersheson, Christos Ganos, Niccoló E. Mencacci, Maria Stamelou, Amit Batla, Stefanie Catherine Thust, Jose M. Bras, Rita J. Guerreiro, John Hardy, Niall P. Quinn, Henry Houlden and Kailash P. Bhatia

    Version of Record online : 27 DEC 2014, DOI: 10.1002/mds.26129

  20. Myelin mishaps

    Annals of Neurology

    Volume 62, Issue 2, August 2007, Pages: 107–109, A. James Barkovich

    Version of Record online : 7 AUG 2007, DOI: 10.1002/ana.21165