Pathogen evolution and disease emergence in carnivores
McCarthy, Alex J, Shaw, Marie-Anne, Goodman, Simon J
Published in Proceedings of the Royal Society. B, Biological sciences (22.12.2007)
Published in Proceedings of the Royal Society. B, Biological sciences (22.12.2007)
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An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies
Chang, Leon, Motley, Rebecca, Daly, Catherine L, Diggle, Christine P, Hopkins, Philip M, Shaw, Marie-Anne
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility
Endo, Yukari, Groom, Linda, Celik, Alper, Kraeva, Natalia, Lee, Chang Seok, Jung, Sung Yun, Gardner, Lois, Shaw, Marie-Anne, Hamilton, Susan L., Hopkins, Philip M., Dirksen, Robert T., Riazi, Sheila, Dowling, James J.
Published in Nature communications (13.06.2022)
Published in Nature communications (13.06.2022)
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Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients
Chang, Leon, Gardner, Lois, House, Carol, Daly, Catherine, Allsopp, Adrian, Roiz de Sa, Daniel, Shaw, Marie-Anne, Hopkins, Philip M
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Genetic diversity and transmission characteristics of Beijing family strains of Mycobacterium tuberculosis in Peru
Iwamoto, Tomotada, Grandjean, Louis, Arikawa, Kentaro, Nakanishi, Noriko, Caviedes, Luz, Coronel, Jorge, Sheen, Patricia, Wada, Takayuki, Taype, Carmen A, Shaw, Marie-Anne, Moore, David A J, Gilman, Robert H
Published in PloS one (21.11.2012)
Published in PloS one (21.11.2012)
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The role of CACNA1S in predisposition to malignant hyperthermia
Carpenter, Danielle, Ringrose, Christopher, Leo, Vincenzo, Morris, Andrew, Robinson, Rachel L, Halsall, P Jane, Hopkins, Philip M, Shaw, Marie-Anne
Published in BMC medical genetics (13.10.2009)
Published in BMC medical genetics (13.10.2009)
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Mosaic maternal ancestry in the Great Lakes region of East Africa
Gomes, Verónica, Pala, Maria, Salas, Antonio, Álvarez-Iglesias, Vanesa, Amorim, António, Gómez-Carballa, Alberto, Carracedo, Ángel, Clarke, Douglas J., Hill, Catherine, Mormina, Maru, Shaw, Marie-Anne, Dunne, David W., Pereira, Rui, Pereira, Vânia, Prata, Maria João, Sánchez-Diz, Paula, Rito, Teresa, Soares, Pedro, Gusmão, Leonor, Richards, Martin B.
Published in Human genetics (01.09.2015)
Published in Human genetics (01.09.2015)
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Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease
Handyside, Alan H., Robinson, Mark D., Simpson, Robert J., Omar, Mark B., Shaw, Marie-Anne, Grudzinskas, J.Gedis, Rutherford, Anthony
Published in Molecular human reproduction (01.10.2004)
Published in Molecular human reproduction (01.10.2004)
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One year into the pandemic: Short-term evolution of SARS-CoV-2 and emergence of new lineages
González-Candelas, Fernando, Shaw, Marie-Anne, Phan, Tung, Kulkarni-Kale, Urmila, Paraskevis, Dimitrios, Luciani, Fabio, Kimura, Hirokazu, Sironi, Manuela
Published in Infection, genetics and evolution (01.08.2021)
Published in Infection, genetics and evolution (01.08.2021)
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Journal Article
Mutations in RYR1 in malignant hyperthermia and central core disease
Robinson, Rachel, Carpenter, Danielle, Shaw, Marie-Anne, Halsall, Jane, Hopkins, Philip
Published in Human mutation (01.10.2006)
Published in Human mutation (01.10.2006)
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Journal Article
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families
Carpenter, Danielle, Ismail, Azzam, Robinson, Rachel L., Ringrose, Christopher, Booms, Patrick, Iles, David E., Halsall, P. Jane, Steele, Derek, Shaw, Marie-Anne, Hopkins, Philip M.
Published in Muscle & nerve (01.10.2009)
Published in Muscle & nerve (01.10.2009)
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Investigating the genetic susceptibility to exertional heat illness
Gardner, Lois, Miller, Dorota M, Daly, Catherine, Gupta, Pawan K, House, Carol, Roiz de Sa, Daniel, Shaw, Marie-Anne, Hopkins, Philip M
Published in Journal of medical genetics (01.08.2020)
Published in Journal of medical genetics (01.08.2020)
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Karyomapping: a Universal Method for Genome Wide Analysis of Genetic Disease based on Mapping Crossovers between Parental Haplotypes
Handyside, Alan H, Harton, Gary L, Mariani, Brian, Thornhill, Alan R, Affara, Nabeel A, Shaw, Marie-Anne, Griffin, Darren K
Published in Journal of medical genetics (01.10.2010)
Published in Journal of medical genetics (01.10.2010)
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Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia
Chang, Leon, Liu, Xiaochen, Diggle, Christine P., Boyle, John P., Hopkins, Philip M., Shaw, Marie-Anne, Allen, Paul D.
Published in The Journal of biological chemistry (06.11.2020)
Published in The Journal of biological chemistry (06.11.2020)
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Journal Article
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness
Fiszer, Dorota, Shaw, Marie-Anne, Fisher, Nickla A, Carr, Ian M, Gupta, Pawan K, Watkins, Elizabeth J, Roiz de Sa, Daniel, Kim, Jerry H, Hopkins, Philip M
Published in Anesthesiology (Philadelphia) (01.05.2015)
Published in Anesthesiology (Philadelphia) (01.05.2015)
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