Derek J. Blake

Cardiff University GB

0000-0002-5005-4731

137

Publications

15,279

Citations

H-Index

i10-Index

3.25

2yr Mean Cite

Cite/Paper

Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar

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Publication & Citation Trends

Most Cited Works

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD OA

Alan E. Renton, Elisa Majounie, Adrian J. Waite, Javier Simón‐Sánchez, Sara Rollinson +71 more

Neuron 2011

4,430

Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle OA

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

Physiological Reviews 2002

1,219

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 OA

Martin Brockington, Derek J. Blake, Paola Prandini, S. Brown, Silvia Torelli +9 more

The American Journal of Human Genetics 2001

597

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

Wei Li, Qing Zhang, Naoki Oiso, Edward K. Novak, Rashi Gautam +15 more

Nature Genetics 2003

432

PDZ Domains: Targeting signalling molecules to sub‐membranous sites

Chris P. Ponting, Christopher Phillips, Kay E. Davies, Derek J. Blake

BioEssays 1997

414

Publications

137 total

<scp>C</scp>9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits PDF

Max Koppers, Anna M. Blokhuis, Henk‐Jan Westeneng, Margo L. Terpstra, Caroline A. C. Zundel et al. - Annals of Neurology, 2015

Cited by 249 OpenAlex

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

Adrian J. Waite, Dirk Bäumer, Simon Z. East, James Neal, Huw R. Morris et al. - Neurobiology of Aging, 2014

Cited by 274 OpenAlex

The dystrophin–glycoprotein complex in brain development and disease

Adrian J. Waite, S. Brown, Derek J. Blake - Trends in Neurosciences, 2012

Cited by 202 OpenAlex

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD PDF

Alan E. Renton, Elisa Majounie, Adrian J. Waite, Javier Simón‐Sánchez, Sara Rollinson et al. - Neuron, 2011

Cited by 4,430 OpenAlex

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

Konrad Talbot, Wess L. Eidem, Caroline L. Tinsley, Matthew A. Benson, Edward W. Thompson et al. - Journal of Clinical Investigation, 2004

Cited by 412 OpenAlex

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

Konrad Talbot, Wess L. Eidem, Caroline L. Tinsley, Matthew A. Benson, Edward W. Thompson et al. - Journal of Clinical Investigation, 2004

Cited by 396 OpenAlex

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

Wei Li, Qing Zhang, Naoki Oiso, Edward K. Novak, Rashi Gautam et al. - Nature Genetics, 2003

Cited by 432 OpenAlex

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

Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano‐Roy, Yeliz Yuva et al. - Annals of Neurology, 2003

Cited by 237 OpenAlex

Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle PDF

Derek J. Blake, Andrew Weir, Sarah E. Newey, Kay E. Davies - Physiological Reviews, 2002

Cited by 1,219 OpenAlex

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 PDF

Martin Brockington, Derek J. Blake, Paola Prandini, S. Brown, Silvia Torelli et al. - The American Journal of Human Genetics, 2001

Cited by 597 OpenAlex

Research Topics

Muscle Physiology and Disorders (56) Adipose Tissue and Metabolism (23) Genetic Neurodegenerative Diseases (18) Genetics and Neurodevelopmental Disorders (18) RNA Research and Splicing (13)

Frequent Co-Authors

Matthew A. Benson

5 joint publications

Adrian J. Waite

4 joint publications

S. Brown

3 joint publications

Caroline L. Tinsley

3 joint publications

James Neal

2 joint publications

Huw R. Morris

2 joint publications

Affiliations

University of Calgary

CA 2003 - 2003

Duke University

US 1977 - 1976

North Tyneside General Hospital

GB 2012 - 2012

Great Ormond Street Hospital

GB 2012 - 2012

Frenchay Hospital

GB 2012 - 2012

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Derek J. Blake

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