Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

por Ochala, Julien, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
Publicado 2012

Incidental inequity

por Nowak, Kristen J., Bauskis, Alicia, Dawkins, Hugh J., Baynam, Gareth
Publicado 2018

Recent advances in understanding congenital myopathies

por Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Publicado 2018

Descriptive epidemiological study of rare, less common and common cancers in Western Australia

por Bilkey, Gemma A., Trevithick, Richard W., Coles, Emily P., Girschik, Jennifer, Nowak, Kristen J.
Publicado 2021

Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function

por Fan, Jun, Chan, Chun, McNamara, Elyshia L., Nowak, Kristen J., Iwamoto, Hiroyuki, Ochala, Julien
Publicado 2018

Optimizing Precision Medicine for Public Health

por Bilkey, Gemma A., Burns, Belinda L., Coles, Emily P., Mahede, Trinity, Baynam, Gareth, Nowak, Kristen J.
Publicado 2019

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

por Marttila, Minttu, Hanif, Mubashir, Lemola, Elina, Nowak, Kristen J, Laitila, Jenni, Grönholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina
Publicado 2014

Multimodal MRI and (31)P-MRS Investigations of the ACTA1(Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function, Altered Muscle Structure...

por Gineste, Charlotte, Duhamel, Guillaume, Le Fur, Yann, Vilmen, Christophe, Cozzone, Patrick J., Nowak, Kristen J., Bendahan, David, Gondin, Julien
Publicado 2013

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future

por Molster, Caron M., Bowman, Faye L., Bilkey, Gemma A., Cho, Angela S., Burns, Belinda L., Nowak, Kristen J., Dawkins, Hugh J. S.
Publicado 2018

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

por Burns, Belinda L., Bilkey, Gemma A., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, Dawkins, Hugh J. S., Weeramanthri, Tarun S., Nowak, Kristen J.
Publicado 2019

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

por Bilkey, Gemma A., Burns, Belinda L., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, J. S. Dawkins, Hugh, Nowak, Kristen J., Weeramanthri, Tarun S.
Publicado 2019

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation

por Boutilier, Jordan K., Taylor, Rhonda L., Mann, Tracy, McNamara, Elyshia, Hoffman, Gary J., Kenny, Jacob, Dilley, Rodney J., Henry, Peter, Morahan, Grant, Laing, Nigel G., Nowak, Kristen J.
Publicado 2017

Variable outcomes of human heart attack recapitulated in genetically diverse mice

por Salimova, Ekaterina, Nowak, Kristen J., Estrada, Ana C., Furtado, Milena B., McNamara, Elyshia, Nguyen, Quang, Balmer, Lois, Preuss, Christoph, Holmes, Jeffrey W., Ramialison, Mirana, Morahan, Grant, Rosenthal, Nadia A.
Publicado 2019

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

por Ravenscroft, Gianina, Jackaman, Connie, Sewry, Caroline A., McNamara, Elyshia, Squire, Sarah E., Potter, Allyson C., Papadimitriou, John, Griffiths, Lisa M., Bakker, Anthony J., Davies, Kay E., Laing, Nigel G., Nowak, Kristen J.
Publicado 2011

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

por Messineo, Adriana M., Gineste, Charlotte, Sztal, Tamar E., McNamara, Elyshia L., Vilmen, Christophe, Ogier, Augustin C., Hahne, Dorothee, Bendahan, David, Laing, Nigel G., Bryson-Richardson, Robert J., Gondin, Julien, Nowak, Kristen J.
Publicado 2018

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

por Clayton, Joshua S., McNamara, Elyshia L., Goullee, Hayley, Conijn, Stefan, Muthsam, Keren, Musk, Gabrielle C., Coote, David, Kijas, James, Testa, Alison C., Taylor, Rhonda L., O’Hara, Amanda J., Groth, David, Ottenheijm, Coen, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
Publicado 2020

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

por Sztal, Tamar E., Zhao, Mo, Williams, Caitlin, Oorschot, Viola, Parslow, Adam C., Giousoh, Aminah, Yuen, Michaela, Hall, Thomas E., Costin, Adam, Ramm, Georg, Bird, Phillip I., Busch-Nentwich, Elisabeth M., Stemple, Derek L., Currie, Peter D., Cooper, Sandra T., Laing, Nigel G., Nowak, Kristen J., Bryson-Richardson, Robert J.
Publicado 2015

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

por Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Publicado 2020

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

por Nowak, Kristen J., Ravenscroft, Gianina, Jackaman, Connie, Filipovska, Aleksandra, Davies, Stefan M., Lim, Esther M., Squire, Sarah E., Potter, Allyson C., Baker, Elizabeth, Clément, Sophie, Sewry, Caroline A., Fabian, Victoria, Crawford, Kelly, Lessard, James L., Griffiths, Lisa M., Papadimitriou, John M., Shen, Yun, Morahan, Grant, Bakker, Anthony J., Davies, Kay E., Laing, Nigel G.
Publicado 2009

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

por Laitila, Jenni M., McNamara, Elyshia L., Wingate, Catherine D., Goullee, Hayley, Ross, Jacob A., Taylor, Rhonda L., van der Pijl, Robbert, Griffiths, Lisa M., Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S., Sewry, Caroline, Lawlor, Michael W., Ottenheijm, Coen A. C., Bakker, Anthony J., Ochala, Julien, Laing, Nigel G., Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J.
Publicado 2020