Derek J. Blake

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

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 598 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 et al. · Nature Genetics · 2003 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

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

Konrad Talbot, Wess L. Eidem, Caroline L. Tinsley et al. · Journal of Clinical Investigation · 2004 · 412 citations · Full text

Life Sciences, Genetics, Neuroscience +16

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

Konrad Talbot, Wess L. Eidem, Caroline L. Tinsley et al. · Journal of Clinical Investigation · 2004 · 396 citations · Full text

Life Sciences, Genetics, Neuroscience +16