Derek J. Blake

Overview

Best Publications

• A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

  Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez

  4892
  Citations

• Function and genetics of dystrophin and dystrophin-related proteins in muscle

  Derek J. Blake;Andrew Weir;Sarah E. Newey;Kay E. Davies

  1478
  Citations

• Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

  Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown

  674
  Citations

• Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

  Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown

  580
  Citations

• PDZ domains: targeting signalling molecules to sub-membranous sites.

  Christopher P. Ponting;Christopher Phillips;Kay E. Davies;Derek J. Blake

  539
  Citations

• Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia

  Konrad Talbot;Wess L. Eidem;Caroline L. Tinsley;Matthew A. Benson

  531
  Citations

• Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

  Wei Li;Qing Zhang;Naoki Oiso;Edward K Novak

  497
  Citations

• Primary structure of dystrophin-related protein.

  Jonathon M. Tinsley;Derek J. Blake;A. Roche;U. Fairbrother

  496
  Citations

• Dysbindin, a Novel Coiled-coil-containing Protein That Interacts with the Dystrobrevins in Muscle and Brain *

  Matthew A. Benson;Sarah E. Newey;Enca Martin-Rendon;Richard Hawkes

  386
  Citations

• Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

  Adrian J. Waite;Dirk Bäumer;Simon East;James Neal

  309
  Citations

• ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome

  David J. Picketts;Douglas R. Higgs;Satvinder Bachoo;Derek J. Blake

  292
  Citations

• C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

  Max Koppers;Anna M. Blokhuis;Henk Jan Westeneng;Margo L. Terpstra

  286
  Citations

• Different Dystrophin-like Complexes Are Expressed in Neurons and Glia

  Derek J. Blake;Richard Hawkes;Matthew A. Benson;Phillip W. Beesley

  279
  Citations

• ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins

  Chris P. Ponting;Derek J. Blake;Kay E. Davies;John Kendrick-Jones

  262
  Citations

• Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

  Eugenio Mercuri;Eugenio Mercuri;Eugenio Mercuri;Martin Brockington;Volker Straub;Susana Quijano-Roy

  259
  Citations

• Increasing complexity of the dystrophin-associated protein complex

  Jonathon M. Tinsley;Derek J. Blake;Richard A. Zuellig;Kay E. Davies

  250
  Citations

• Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.

  G. C. Sellar;Derek J. Blake;K. B. Reid

  240
  Citations

• Defective glycosylation in muscular dystrophy

  Francesco Muntoni;Martin Brockington;Derek J Blake;Silvia Torelli

  225
  Citations

• UTROPHIN : A STRUCTURAL AND FUNCTIONAL COMPARISON TO DYSTROPHIN

  Derek J. Blake;Jonathon M. Tinsley;Kay E. Davies

  224
  Citations

• The dystrophin-glycoprotein complex in brain development and disease.

  Adrian James Waite;Susan C. Brown;Derek J. Blake

  224
  Citations