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Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6123, pp. 1077 - 1080
Journal Article
Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 590 - 594
Journal Article
Neuro-Oncology, ISSN 1522-8517, 10/2015, Volume 17, Issue 10, pp. 1356 - 1364
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2011, Volume 108, Issue 49, pp. 19707 - 19712
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 9, pp. 3489 - 3494
Journal Article
Genome Medicine, ISSN 1756-994X, 02/2017, Volume 9, Issue 1, p. 12
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 523 - 535
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 51, Issue 6, pp. 806 - 813.e8
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2013, Volume 110, Issue 9, p. 3489
  Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three... 
Proteins | Enzymes | Brain | Neurodegeneration | Neurons | Mutation
Journal Article
Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 12/2011, Volume 108, Issue 49, pp. 19707 - 19712
The pathogenesis of intracranial aneurysm (IA) formation and rupture is complex, with significant contribution from genetic factors. We previously reported... 
Endothelin | EDNRA gene | Aneurysm | Rupture | Single-nucleotide polymorphism | chromosome 4 | Signal transduction | Reviews | Endothelin receptors | Chromosome 12 | Replication | genomics | Genetic factors
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2011, Volume 108, Issue 49, p. 19707
The pathogenesis of intracranial aneurysm (IA) formation and rupture is complex, with significant contribution from genetic factors. We previously reported... 
Proteins | Genotype & phenotype | Aneurysms | Gene loci | Gene expression
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, p. 523
  We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that... 
Brain | Genetic disorders | Intellectual disabilities | Neurons | Mutation | Cells
Journal Article
European Food Research and Technology, ISSN 1438-2377, 4/2013, Volume 236, Issue 4, pp. 725 - 733
Journal Article