Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function

por Graham, Brittany, Shaw, Marie-Anne, Hope, Ian A.
Publicado 2020

Caenorhabditis elegans as a model organism for RYR1 variants and muscle ageing

por Baines, Kathie Nicoll, Shaw, Marie-Anne, Hope, Ian A
Publicado 2014

Gene expression in the context of malignant hyperthermia status and ageing

por Baines, Kathie Nicoll, Fiszer, Dorota, Hopkins, Philip, Shaw, Marie-Anne
Publicado 2014

Malignant hyperthermia and beyond - a virtual BioBank

por Underwood, Rosie, Fisher, Nickla, Fiszer, Dorota, Hopkins, Philip, Shaw, Marie-Anne
Publicado 2014

CCL3L1 copy number and susceptibility to malaria

por Carpenter, Danielle, Färnert, Anna, Rooth, Ingegerd, Armour, John A.L., Shaw, Marie-Anne
Publicado 2012

Advantage from massive parallel sequencing of RYR1 and CACNA1S in diagnostics of malignant hyperthermia susceptibility

por Fiszer, Dorota, Fisher, Nickla A, Carr, Ian M, Shaw, Marie-Anne, Hopkins, Philip M
Publicado 2014

Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations

por Baines, Katie Nicoll, Ferreira, Célia, Hopkins, Philip M., Shaw, Marie-Anne, Hope, Ian A.
Publicado 2017

The introduction of a targeted next generation sequencing diagnostic service for MH

por Fiszer, Dorota, Hobson, Sarah, Fisher, Nickla, Shaw, Marie-Anne, Shepherd, Sarah, Robinson, Rachel, Charlton, Ruth, Hopkins, Phil
Publicado 2014

CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

por Carpenter, Danielle, Taype, Carmen, Goulding, Jon, Levin, Mike, Eley, Brian, Anderson, Suzanne, Shaw, Marie-Anne, Armour, John AL
Publicado 2014

One year into the pandemic: Short-term evolution of SARS-CoV-2 and emergence of new lineages

por González-Candelas, Fernando, Shaw, Marie-Anne, Phan, Tung, Kulkarni-Kale, Urmila, Paraskevis, Dimitrios, Luciani, Fabio, Kimura, Hirokazu, Sironi, Manuela
Publicado 2021

Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients

por Chang, Leon, Gardner, Lois, House, Carol, Daly, Catherine, Allsopp, Adrian, Roiz de Sa, Daniel, Shaw, Marie-Anne, Hopkins, Philip M.
Publicado 2023

The role of CACNA1S in predisposition to malignant hyperthermia

por Carpenter, Danielle, Ringrose, Christopher, Leo, Vincenzo, Morris, Andrew, Robinson, Rachel L, Halsall, P Jane, Hopkins, Philip M, Shaw, Marie-Anne
Publicado 2009

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels

por Algady, Walid, Louzada, Sandra, Carpenter, Danielle, Brajer, Paulina, Färnert, Anna, Rooth, Ingegerd, Ngasala, Billy, Yang, Fengtang, Shaw, Marie-Anne, Hollox, Edward J.
Publicado 2018

SARS-CoV-2 and COVID-19: A genetic, epidemiological, and evolutionary perspective

por Sironi, Manuela, Hasnain, Seyed E., Rosenthal, Benjamin, Phan, Tung, Luciani, Fabio, Shaw, Marie-Anne, Sallum, M. Anice, Mirhashemi, Marzieh Ezzaty, Morand, Serge, González-Candelas, Fernando
Publicado 2020

Genetic Diversity and Transmission Characteristics of Beijing Family Strains of Mycobacterium tuberculosis in Peru

por 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.
Publicado 2012

Correction: Genetic Diversity and Transmission Characteristics of Beijing Family Strains of Mycobacterium tuberculosis in Peru

por 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.
Publicado 2013

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

por 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.
Publicado 2022