Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Overview
Free Access

Databases for neurogenetics: Introduction, overview, and challenges†

María-Jesús Sobrido,  Pilar Cacheiro,  Ángel Carracedo,  Lars Bertram, 
  • Pages: 1311-1314
  • First Published: 13 August 2012

Special Article
Free Access

Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias†

Conceição Bettencourt,  Beatriz Quintáns,  Raquel Ros,  Israel Ampuero,  Zuleima Yáñez,  Samuel Ignacio Pascual,  Justo García de Yébenes,  María-Jesús Sobrido, 
  • Pages: 1315-1323
  • First Published: 29 June 2012

Review
Free Access

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics†

Joshua Hersheson,  Andrea Haworth,  Henry Houlden, 
  • Pages: 1324-1332
  • First Published: 11 June 2012

Informatics
Free Access

Ontological phenotype standards for neurogenetics†

Sebastian Köhler,  Sandra C. Doelken,  Ana Rath,  Ségolène Aymé,  Peter N. Robinson, 
  • Pages: 1333-1339
  • First Published: 09 May 2012

Databases
Open Access

Locus-specific mutation databases for neurodegenerative brain diseases†

Marc Cruts,  Jessie Theuns,  Christine Van Broeckhoven, 
  • Pages: 1340-1344
  • First Published: 11 May 2012
Databases
Free Access

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics†

Olubunmi Abel,  John F Powell,  Peter M. Andersen,  Ammar Al-Chalabi, 
  • Pages: 1345-1351
  • First Published: 02 July 2012
Databases
Free Access

Toward a mtDNA locus-specific mutation database using the LOVD platform†

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,  Robert McFarland, 
  • Pages: 1352-1358
  • First Published: 11 May 2012
Databases
Free Access

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations † ‡

Joanne E. Martindale,  Sara Seneca,  Stefan Wieczorek,  Jorge Sequeiros, 
  • Pages: 1359-1365
  • First Published: 02 July 2012
Databases
Free Access

Developing the “next generation” of genetic association databases for complex diseases†

Christina M. Lill,  Lars Bertram, 
  • Pages: 1366-1372
  • First Published: 02 July 2012

Brief Report
Free Access

Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations†

Mirko Pinotti,  Pierpaolo Caruso,  Alessandro Canella,  Matteo Campioni,  Giuseppe Tagariello,  Giancarlo Castaman,  Sofia Giacomelli,  Donata Belvini,  Francesco Bernardi, 
  • Pages: 1373-1376
  • First Published: 22 May 2012

Research Article
Free Access

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease†

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,  Masao Kobayashi, 
  • Pages: 1377-1387
  • First Published: 09 May 2012
Research Article
Free Access

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity†

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,  Gael Nicolas, 
  • Pages: 1388-1396
  • First Published: 11 May 2012