Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alex D Shaw"'
Autor:
Claudio Toma, Kerrie D Pierce, Alex D Shaw, Anna Heath, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007535 (2018)
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epile
Externí odkaz:
https://doaj.org/article/d91994d102dc480998b7ebb88bba5e11
Autor:
Alex D Shaw, Yash Tiwari, Warren Kaplan, Anna Heath, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92556 (2014)
Alpha-2,8-sialyltransferase 2 (ST8SIA2) is an enzyme responsible for the transfer of polysialic acid (PSA) to glycoproteins, principally the neuronal cell adhesion molecule (NCAM1), and is involved in neuronal plasticity. Variants within ST8SIA2 have
Externí odkaz:
https://doaj.org/article/d0df28b7b362424a89e25d1c01bfaa2e
Autor:
Marianne Hallupp, Colin D. Field, Kelly L. Williams, Emily P. McCann, Garth A. Nicholson, Claire E. Shepherd, John R. Hodges, John Landers, Agnes Luty, William S. Brooks, Thomas Fath, Glenda M. Halliday, Mark F. Bennett, Peter K. Panegyres, Peter R. Schofield, Jennifer A. Fifita, Bradley N. Smith, Ian P. Blair, Janice M. Fullerton, Esmeralda Paric, Neil Rajan, Olivier Piguet, John B.J. Kwok, Jane Hecker, Alex D. Shaw, Cathy L. Short, Melanie Bahlo, Carol Dobson-Stone, Shankaracharya, Audrey Ragagnin, Holly Stefen, Hamideh Shahheydari, Francine Carew-Jones, Elizabeth Thompson, Julie D. Atkin, Zac Chatterton, Peter C. Blumbergs, Simon Topp, Christopher Shaw
Publikováno v:
Brain
Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 with genome-wide significant linkage in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147cbcedfc0f7e3f90f58f18e7947926
https://doi.org/10.1093/brain/awaa039
https://doi.org/10.1093/brain/awaa039
Autor:
Alex D. Shaw, Philip B. Mitchell, Claudio Toma, Bronwyn Overs, Peter R. Schofield, Antony A. Cooper, Janice M. Fullerton
Publikováno v:
JAMA Network Open
This case-control study explores de novo candidate gene variants in 18 multiplex families with bipolar disorder.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71a47e1c44c63ee8cb02837b51f2b668
http://europepmc.org/articles/PMC7210482
http://europepmc.org/articles/PMC7210482
Autor:
Alex D. Shaw, Richard J.N. Allcock, Philip B. Mitchell, Janice M. Fullerton, Anna Heath, Peter R. Schofield, Claudio Toma, Kerrie D. Pierce
Publikováno v:
Translational Psychiatry, Vol 8, Iss 1, Pp 1-12 (2018)
Translational Psychiatry
Translational Psychiatry
Bipolar disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance, the latter of which are largely unknown.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffa4e71e76c031f1aca306b4a7eef37
http://link.springer.com/article/10.1038/s41398-018-0113-y
http://link.springer.com/article/10.1038/s41398-018-0113-y
Autor:
Philip B. Mitchell, Kerrie D. Pierce, Alex D. Shaw, Janice M. Fullerton, Peter R. Schofield, Anna Heath, Claudio Toma
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 14, Iss 12, p e1007535 (2018)
PLoS Genetics, Vol 14, Iss 12, p e1007535 (2018)
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bcd3bdae5783ce94004091263ca853
http://europepmc.org/articles/PMC6324819
http://europepmc.org/articles/PMC6324819
Autor:
Thomas W. Weickert, Alex D. Shaw, Rodney J. Scott, Janice M. Fullerton, Anna Heath, Christos Pantelis, Alex Fornito, Bronwyn Overs, Rhoshel K. Lenroot, Thomas J. Whitford, Murray J. Cairns, Joshua R. Atkins, Andrew Zalesky, Peter R. Schofield, Cyndi Shannon Weickert, Paul Klauser
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Vol 8, Iss 1, Pp 1-10 (2018)
Translational Psychiatry, Vol 8, Iss 1, Pp 1-10 (2018)
Brain white matter abnormalities are evident in individuals with schizophrenia, and also their first-degree relatives, suggesting that some alterations may relate to underlying genetic risk. The ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransfer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a808cc2b8f6e34abb7f669169df04881
https://doi.org/10.1038/s41398-017-0052-z
https://doi.org/10.1038/s41398-017-0052-z
Autor:
Richard J.N. Allcock, Janice M. Fullerton, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Peter R. Schofield, Philip B. Mitchell, Claudio Toma
Publikováno v:
European Neuropsychopharmacology. 29:S837-S838
Background Bipolar Disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance. Multiplex families with high d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69196d26ba4f043db0867e69c871a54a
https://doi.org/10.1016/j.euroneuro.2017.08.101
https://doi.org/10.1016/j.euroneuro.2017.08.101
Autor:
Richard J.N. Allcock, Alex D. Shaw, Kerrie D. Pierce, Philip B. Mitchell, Peter R. Schofield, Anna Heath, Janice M. Fullerton, Claudio Toma
Publikováno v:
European Neuropsychopharmacology. 29:S834-S835
Background Bipolar Disorder (BD) is a common, complex psychiatric condition characterized by recurrent fluctuations of mood. Historically, linkage approaches implicated a number of genetic loci, but signals typically failed to be replicated due to he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6de583462a16eb3017406b855983a069
https://doi.org/10.1016/j.euroneuro.2017.08.096
https://doi.org/10.1016/j.euroneuro.2017.08.096
Autor:
Emma K. Stapp, Gloria Roberts, Christine B. Brucksch, Leslie Miller, Howard J. Edenberg, Elizabeth Kastelic, Anne L. Glowinski, Carrie Fisher, John I. Nurnberger, Alex D. Shaw, Kelly S. Benke, Andrew Frankland, Philip B. Mitchell, Leslie A. Hulvershorn, Holly C. Wilcox, Claudio Toma, Neera Ghaziuddin, Janice M. Fullerton, Masoud Kamali, Melvin G. McInnis
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry. 56(12)
Objective Bipolar disorder (BD) is one of the most heritable psychiatric conditions and is associated with high suicide risk. To explore the reasons for this link, this study examined the interaction between traumatic stress and BD polygenic risk sco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2d83c8e4264269403dda083e0c8539
https://pubmed.ncbi.nlm.nih.gov/29173731
https://pubmed.ncbi.nlm.nih.gov/29173731