Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Oscar E.E. Graham"'
Autor:
Leonie M. Hitchman, Allamanda Faatoese, Tony R. Merriman, Allison L. Miller, Yusmiati Liau, Oscar E.E. Graham, Ping Siu Kee, John F. Pearson, Tony Fakahau, Vicky A. Cameron, Martin A. Kennedy, Simran D.S. Maggo
The enzyme cytochrome P450 2D6 (CYP2D6) metabolises approximately 25% of commonly prescribed drugs, including analgesics, anti-hypertensives, and anti-depressants, among many others. Genetic variation in drug metabolising genes can alter how an indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b0fc16ec4a8e4ed69751e252d7e72f3
https://doi.org/10.1101/2022.07.21.501043
https://doi.org/10.1101/2022.07.21.501043
Autor:
Martin A. Kennedy, Tayaza Fadason, William Schierding, Sophie Farrow, Toni L. Pitcher, Alan J. Davidson, Jo K. Perry, Sara Qubisi, Antony A. Cooper, Oscar E.E. Graham, Tim J. Anderson, Justin M. O'Sullivan
Publikováno v:
Movement Disorders
Background GBA mutations are numerically the most significant genetic risk factor for Parkinson's disease (PD), yet these mutations have low penetrance, suggesting additional mechanisms. Objectives The objective of this study was to determine if the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::027e7499bc35c2e9d292b661922d48bf
https://doi.org/10.1002/mds.28144
https://doi.org/10.1002/mds.28144
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson’s disease cohort
Autor:
Martin A. Kennedy, Tim J. Anderson, John C. Dalrymple-Alford, Oscar E.E. Graham, Yusmiati Liau, Toni L. Pitcher, Allison L. Miller
IntroductionBi-allelic mutations in the gene for glucocerebrosidase (GBA) cause Gaucher disease, an autosomal recessive lysosomal storage disorder. Gaucher disease causing GBA mutations in the heterozygous state are also high risk factors for Parkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7496474b5dd386d4e4c5eb51cb5ef8d3
https://doi.org/10.1101/748335
https://doi.org/10.1101/748335