Derek Blake
Derek Blake
Professor of Neuroscience, Cardiff University
Verified email at
Cited by
Cited by
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
Function and genetics of dystrophin and dystrophin-related proteins in muscle
DJ Blake, A Weir, SE Newey, KE Davies
Physiological reviews 82 (2), 291-329, 2002
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ...
The American Journal of Human Genetics 69 (6), 1198-1209, 2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ...
Human molecular genetics 10 (25), 2851-2859, 2001
PDZ domains: targeting signalling molecules to sub‐membranous sites
CP Ponting, C Phillips, KE Davies, DJ Blake
Bioessays 19 (6), 469-479, 1997
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia
K Talbot, WL Eidem, CL Tinsley, MA Benson, EW Thompson, RJ Smith, ...
The Journal of clinical investigation 113 (9), 1353-1363, 2004
Primary structure of dystrophin-related protein
JM Tinsley, DJ Blake, A Roche, U Fairbrother, J Riss, BC Byth, AE Knight, ...
Nature 360 (6404), 591-593, 1992
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
W Li, Q Zhang, N Oiso, EK Novak, R Gautam, EP O'Brien, CL Tinsley, ...
Nature genetics 35 (1), 84-89, 2003
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain
MA Benson, SE Newey, E Martin-Rendon, R Hawkes, DJ Blake
Journal of Biological Chemistry 276 (26), 24232-24241, 2001
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
AJ Waite, D Bäumer, S East, J Neal, HR Morris, O Ansorge, DJ Blake
Neurobiology of aging 35 (7), 1779. e5-1779. e13, 2014
C 9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
M Koppers, AM Blokhuis, HJ Westeneng, ML Terpstra, CAC Zundel, ...
Annals of neurology 78 (3), 426-438, 2015
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
DJ Picketts, DR Higgs, S Bachoo, DJ Blake, OWJ Quarrell, RJ Gibbons
Human molecular genetics 5 (12), 1899-1907, 1996
The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle?
DJ Blake, S Kröger
Trends in neurosciences 23 (3), 92-99, 2000
Different dystrophin-like complexes are expressed in neurons and glia
DJ Blake, R Hawkes, MA Benson, PW Beesley
The Journal of cell biology 147 (3), 645-658, 1999
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins
CP Ponting, DJ Blake, KE Davies, J Kendrick-Jones, SJ Winder
Trends in biochemical sciences 21 (1), 11-13, 1996
Phenotypic spectrum associated with mutations in the fukutin‐related protein gene
E Mercuri, M Brockington, V Straub, S Quijano‐Roy, Y Yuva, R Herrmann, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
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
GC Sellar, DJ Blake, KB Reid
Biochemical journal 274 (2), 481-490, 1991
Increasing complexity of the dystrophin-associated protein complex.
JM Tinsley, DJ Blake, RA Zuellig, KE Davies
Proceedings of the National Academy of Sciences 91 (18), 8307-8313, 1994
The dystrophin–glycoprotein complex in brain development and disease
A Waite, SC Brown, DJ Blake
Trends in neurosciences 35 (8), 487-496, 2012
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