Search Results

There are 63642 results for: content related to: Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

  1. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2835–2842, Amy L. Barczykowski, Alexander H. Foss, Patricia K. Duffner, Li Yan and Randy L. Carter

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35624

  2. Molecular genetics of metachromatic leukodystrophy

    Human Mutation

    Volume 4, Issue 4, 1994, Pages: 233–242, Volkmar Gieselmann, Joel Zlotogora, Ann Harris, David A. Wenger and C. Phillip Morris

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380040402

  3. Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 6, 5 September 2006, Pages: 608–614, Lena Marklund, Malin Melin, Atle Melberg, Vilmantas Giedraitis and Niklas Dahl

    Version of Record online : 5 JUL 2006, DOI: 10.1002/ajmg.b.30342

  4. METACHROMATIC LEUKODYSTROPHY. Report of Siblings with the Juvenile Type of Metachromatic Leukodystrophy

    Pathology International

    Volume 38, Issue 8, August 1988, Pages: 1041–1051, Takashi Satoh, Hidenori Suzuki, Nobuhiro Monma, Ryoichi Satodate, Hiroshi Tanaka and And Hideo Yajima

    Version of Record online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1988.tb02376.x

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

    Clinical Genetics

    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

  6. Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

    Developmental Medicine & Child Neurology

    Volume 58, Issue 7, July 2016, Pages: 680–689, Lesley A Stellitano, Anne Marie Winstone, Marjo S van der Knaap and Christopher M Verity

    Version of Record online : 11 FEB 2016, DOI: 10.1111/dmcn.13027

  7. You have full text access to this OnlineOpen article
    Preventable infections in children with leukodystrophy

    Annals of Clinical and Translational Neurology

    Volume 1, Issue 5, May 2014, Pages: 370–374, Holly M. Anderson, Jacob Wilkes, Ernest Kent Korgenski, Michael A. Pulsipher, Anne J. Blaschke, Adam L. Hersh, Rajendu Srivastava and Joshua L. Bonkowsky

    Version of Record online : 14 APR 2014, DOI: 10.1002/acn3.61

  8. Targeted leukodystrophy diagnosis based on charges and yields for testing

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2541–2543, Jackson Richards, E. Kent Korgenski, Ryan J. Taft, Adeline Vanderver and Joshua L. Bonkowsky

    Version of Record online : 16 JUL 2015, DOI: 10.1002/ajmg.a.37215

  9. Two Autopsied Cases of Familial Sudanophilic Leukodystrophy

    Psychiatry and Clinical Neurosciences

    Volume 48, Issue 4, December 1994, Pages: 869–879, Hajime Kazamatsuri, Tetsuya Hirose, Osamu Kanno, Nobumasa Kato and Hiromoto Yasuda

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1440-1819.1994.tb03089.x

  10. Seizures as a presenting feature of late onset metachromatic leukodystrophy

    Acta Neurologica Scandinavica

    Volume 102, Issue 3, September 2000, Pages: 192–195, S. Bostantjopoulou, Z. Katsarou, H. Michelakaki and A. Kazis

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1600-0404.2000.102003192.x

  11. You have free access to this content
    Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

    Brain Pathology

    Volume 19, Issue 1, January 2009, Pages: 39–47, Stefanie H. Freeman, Bradley T. Hyman, Katherine B. Sims, E. T. Hedley-Whyte, Arastoo Vossough, Matthew P. Frosch and Jeremy D. Schmahmann

    Version of Record online : 15 APR 2008, DOI: 10.1111/j.1750-3639.2008.00163.x

  12. Leukocyte Sulfatidase for the Reliable Diagnosis of Metachromatic Leukodystrophy

    Journal of Neurochemistry

    Volume 36, Issue 2, February 1981, Pages: 724–731, S. S. Raghavan, A. Gajewski and E. H. Kolodny

    Version of Record online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1981.tb01648.x

  13. Metachromatic Leukodystrophy

    Acta Radiologica

    Volume 44, Issue 4, July 2003, Pages: 440–443, R. N. Sener

    Version of Record online : 4 JUL 2003, DOI: 10.1034/j.1600-0455.2003.00094.x

  14. Metachromatic leukodystrophy: consequences of sulphatide accumulation

    Acta Paediatrica

    Volume 92, Issue s443, December 2003, Pages: 74–79, V Gieselmann, S Franken, D Klein, JE Mansson, R Sandhoff, R Lüllmann Rauch, D Hartmann, VPM Saravanan, PP De Deyn, R D'Hooge, AM Van Der Linden and N Schaeren-Wiemers

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2003.tb00225.x

  15. You have full text access to this OnlineOpen article
    LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

    Annals of Neurology

    Volume 78, Issue 3, September 2015, Pages: 412–425, Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg and Raili Raininko

    Version of Record online : 27 JUL 2015, DOI: 10.1002/ana.24452

  16. Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients

    European Journal of Neurology

    Volume 21, Issue 7, July 2014, Pages: 983–988, J. Müller vom Hagen, K. N. Karle, R. Schüle, I. Krägeloh-Mann and L. Schöls

    Version of Record online : 2 APR 2014, DOI: 10.1111/ene.12423

  17. Leukodystrophy incidence in Germany

    American Journal of Medical Genetics

    Volume 71, Issue 4, 5 September 1997, Pages: 475–478, Peter Heim, Matthias Claussen, Béatrice Hoffmann, Ernst Conzelmann, Jutta Gärtner, Klaus Harzer, Donald H. Hunneman, Wolfgang Köhler, Gerhard Kurlemann and Alfried Kohlschütter

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C

  18. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 15–21, Volkmar Gieselmann

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00648.x

  19. Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy

    Lysosomal Storage Disorders: A Practical Guide

    Volkmar Gieselmann, David A. Wenger, Ingeborg Krägeloh-Mann, Pages: 70–79, 2012

    Published Online : 15 NOV 2012, DOI: 10.1002/9781118514672.ch9

  20. Metachromatic leukodystrophy manifesting as a schizophrenic disorder: Computed tomographic correlation

    Annals of Neurology

    Volume 18, Issue 1, July 1985, Pages: 94–95, Dr. Pasquale F. Finelli

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410180117