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There are 8888 results for: content related to: Gain of glycosylation: A new pathomechanism of myelin protein zero mutations

  1. Unusual Charcot–Marie–Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero

    Muscle & Nerve

    Volume 41, Issue 4, April 2010, Pages: 550–554, Christiane Schneider-Gold, Judith Kötting, Jörg T. Epplen, Ralf Gold and Wanda M. Gerding

    Article first published online : 30 OCT 2009, DOI: 10.1002/mus.21523

  2. Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

    Journal of the Peripheral Nervous System

    Volume 17, Issue 4, December 2012, Pages: 422–425, Patrizia Dacci, Franco Taroni, Eleonora Dalla Bella, Micaela Milani, Davide Pareyson, Michela Morbin and Giuseppe Lauria

    Article first published online : 21 DEC 2012, DOI: 10.1111/j.1529-8027.2012.00443.x

  3. Two novel MPZ mutations in Chinese CMT patients

    Journal of the Peripheral Nervous System

    Volume 18, Issue 3, September 2013, Pages: 256–260, Lei Liu, Xiaobo Li, Xiaohong Zi, Shunxiang Huang, Yajing Zhan, Mingming Jiang, Jifeng Guo, Kun Xia, Beisha Tang and Ruxu Zhang

    Article first published online : 12 SEP 2013, DOI: 10.1111/jns5.12040

  4. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 81–87, D Brožková, R Mazanec, J Haberlová, I Sakmaryová and P Seeman

    Article first published online : 20 APR 2010, DOI: 10.1111/j.1399-0004.2010.01423.x

  5. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

    Human Mutation

    Volume 7, Issue 1, 1996, Pages: 36–45, Benjamin B. Roa, Laura E. Warner, Carlos A. Garcia, Donna Russo, Robert Lovelace, Phillip F. Chance and James R. Lupski

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N

  6. Congenital hypomyelinating neuropathy due to a novel MPZ mutation

    Journal of the Peripheral Nervous System

    Volume 16, Issue 4, December 2011, Pages: 347–352, Teresa Sevilla, Vincenzo Lupo, Rafael Sivera, Clara Marco-Marín, Dolores Martínez-Rubio, Eloy Rivas, Arturo Hernández, Francesc Palau and Carmen Espinós

    Article first published online : 16 DEC 2011, DOI: 10.1111/j.1529-8027.2011.00369.x

  7. Identification of the null HLA-A2 allele, A*0232N

    Tissue Antigens

    Volume 55, Issue 1, January 2000, Pages: 31–36, M. Bunce, J. Procter, P.P.J. Dunn, S. Day, J. Ross and K.I. Welsh

    Article first published online : 25 DEC 2001, DOI: 10.1034/j.1399-0039.2000.550105.x

  8. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

    Annals of Neurology

    Volume 51, Issue 2, February 2002, Pages: 190–201, Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Garcia, Richard K. Olney, John Johnson, Katherine Berry, Paul Russo, Shelley Kennedy, Ahmad S. Teebi, Mena Scavina, Lowell L. Williams, Pedro Mancias, Ian J. Butler, Karen Krajewski, Michael Shy and James R. Lupski

    Article first published online : 13 DEC 2001, DOI: 10.1002/ana.10089

  9. Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype

    Journal of the Peripheral Nervous System

    Volume 11, Issue 1, March 2006, Pages: 61–66, Andreas J. Steck, Beat Erne, Davide Pareyson, Angelo Sghirlanzoni, Franco Taroni and Nicole Schaeren-Wiemers

    Article first published online : 7 MAR 2006, DOI: 10.1111/j.1085-9489.2006.00064.x

  10. 2009 Meeting of the Peripheral Nerve Society July 4—8, 2009 Würzburg, Germany

    Journal of the Peripheral Nervous System

    Volume 14, Issue s2, July 2009, Pages: 1–163,

    Article first published online : 23 JUN 2009, DOI: 10.1111/j.1529-8027.2009.00212.x

  11. Asymptotic Formulas for Determinants of a Sum of Finite Toeplitz and Hankel Matrices

    Mathematische Nachrichten

    Volume 228, Issue 1, August 2001, Pages: 5–45, Estelle L. Basor and Torsten Ehrhardt

    Article first published online : 10 JUL 2001, DOI: 10.1002/1522-2616(200108)228:1<5::AID-MANA5>3.0.CO;2-E

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    Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene

    Journal of the Peripheral Nervous System

    Volume 16, Issue 1, March 2011, Pages: 59–64, Federica Taioli, Ilaria Cabrini, Tiziana Cavallaro, Alessandro Simonati, Silvia Testi and Gian Maria Fabrizi

    Article first published online : 19 APR 2011, DOI: 10.1111/j.1529-8027.2011.00319.x

  13. Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families

    Acta Neurologica Scandinavica

    Volume 118, Issue 5, November 2008, Pages: 328–332, A. Mazzeo, M. Muglia, C. Rodolico, A. Toscano, A. Patitucci, A. Quattrone, C. Messina and G. Vita

    Article first published online : 14 APR 2008, DOI: 10.1111/j.1600-0404.2008.01021.x

  14. You have free access to this content
    Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease

    Human Mutation

    Volume 16, Issue 2, August 2000, Pages: 177–178, Tsuyoshi Yoshihara, Masahiko Yamamoto, Manabu Doyu, Ken-Ichiro Mis, Naoki Hattori, Yasuhiro Hasegawa, Kenji Mokuno, Terunori Mitsuma and Gen Sobue

    Article first published online : 28 JUL 2000, DOI: 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5

  15. Crystal structure of the extracellular domain of human myelin protein zero

    Proteins: Structure, Function, and Bioinformatics

    Volume 80, Issue 1, January 2012, Pages: 307–313, Zhigang Liu, Yong Wang, Ravikiran S. Yedidi, Joseph S. Brunzelle, Iulia A. Kovari, Jasloveleen Sohi, John Kamholz and Ladislau C. Kovari

    Article first published online : 4 OCT 2011, DOI: 10.1002/prot.23164

  16. Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

    European Journal of Neurology

    Volume 13, Issue 10, October 2006, Pages: 1149–1152, J. Finsterer, G. Miltenberger, H. Rauschka and A. Janecke

    Article first published online : 31 JUL 2006, DOI: 10.1111/j.1468-1331.2006.01479.x

  17. 2007 Meeting of the Peripheral Nerve Society July 14–18, 2007 Snowbird, Utah

    Journal of the Peripheral Nervous System

    Volume 12, Issue s1, July 2007, Pages: 1–97,

    Article first published online : 26 JUL 2007, DOI: 10.1111/j.1529-8027.2007.00123.x

  18. 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

    Article first published online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00379.x

  19. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration

    Journal of Comparative Neurology

    Volume 498, Issue 2, 10 September 2006, Pages: 252–265, Jun Li, Yunhong Bai, Emilia Ianakova, Marina Grandis, Fred Uchwat, Anna Trostinskaia, Karen M. Krajewski, James Garbern, William J. Kupsky and Michael E. Shy

    Article first published online : 19 JUL 2006, DOI: 10.1002/cne.21051

  20. 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