Human Mutation

Cover image for Vol. 33 Issue 9

Special Issue: Databases in Neurogenetics

September 2012

Volume 33, Issue 9

Pages 1311–1396

Issue edited by: Lars Bertram, María-Jesús Sobrido

  1. Overview

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
      Databases for neurogenetics: Introduction, overview, and challenges (pages 1311–1314)

      María-Jesús Sobrido, Pilar Cacheiro, Ángel Carracedo and Lars Bertram

      Article first published online: 13 AUG 2012 | DOI: 10.1002/humu.22164

  2. Special Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
      Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias (pages 1315–1323)

      Conceição Bettencourt, Beatriz Quintáns, Raquel Ros, Israel Ampuero, Zuleima Yáñez, Samuel Ignacio Pascual, Justo García de Yébenes and María-Jesús Sobrido

      Article first published online: 16 JUL 2012 | DOI: 10.1002/humu.22148

  3. Reviews

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
  4. Informatics

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
      Ontological phenotype standards for neurogenetics (pages 1333–1339)

      Sebastian Köhler, Sandra C. Doelken, Ana Rath, Ségolène Aymé and Peter N. Robinson

      Article first published online: 2 JUL 2012 | DOI: 10.1002/humu.22112

  5. Databases

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have full text access to this OnlineOpen article
      Locus-specific mutation databases for neurodegenerative brain diseases (pages 1340–1344)

      Marc Cruts, Jessie Theuns and Christine Van Broeckhoven

      Article first published online: 2 JUL 2012 | DOI: 10.1002/humu.22117

    2. You have free access to this content
      ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics (pages 1345–1351)

      Olubunmi Abel, John F Powell, Peter M. Andersen and Ammar Al-Chalabi

      Article first published online: 16 JUL 2012 | DOI: 10.1002/humu.22157

    3. You have free access to this content
      Toward a mtDNA locus-specific mutation database using the LOVD platform (pages 1352–1358)

      Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C. Wallace, Robert W. Taylor and Robert McFarland

      Article first published online: 2 JUL 2012 | DOI: 10.1002/humu.22118

    4. You have free access to this content
    5. You have free access to this content
  6. Brief Reports

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
      Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations (pages 1373–1376)

      Mirko Pinotti, Pierpaolo Caruso, Alessandro Canella, Matteo Campioni, Giuseppe Tagariello, Giancarlo Castaman, Sofia Giacomelli, Donata Belvini and Francesco Bernardi

      Article first published online: 11 JUN 2012 | DOI: 10.1002/humu.22120

  7. Research Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Databases
    7. Brief Reports
    8. Research Articles
    1. You have free access to this content
      Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease (pages 1377–1387)

      Miyuki Tsumura, Satoshi Okada, Hidemasa Sakai, Shin'ichiro Yasunaga, Motoaki Ohtsubo, Takuji Murata, Hideto Obata, Takahiro Yasumi, Xiao-Fei Kong, Avinash Abhyankar, Toshio Heike, Tatsutoshi Nakahata, Ryuta Nishikomori, Saleh Al-Muhsen, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Mofareh AlZahrani, Mohammed Al Shehri, Geyhad ElGhazali, Yoshihiro Takihara and Masao Kobayashi

      Article first published online: 7 JUN 2012 | DOI: 10.1002/humu.22113

    2. You have free access to this content
      Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity (pages 1388–1396)

      Flavia Guillem, Caroline Kannengiesser, Claire Oudin, Anne Lenoir, Pavle Matak, Jean Donadieu, Bertrand Isidor, Francoise Méchinaud, Patricia Aguilar-Martinez, Carole Beaumont, Sophie Vaulont, Bernard Grandchamp and Gael Nicolas

      Article first published online: 30 MAY 2012 | DOI: 10.1002/humu.22116

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