Search Results - Ravenscroft, Gianina

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus by Ravenscroft, Gianina, Laing, Nigel G., Bönnemann, Carsten G.

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Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness by Ochala, Julien, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.

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Recent advances in understanding congenital myopathies by Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.

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Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel by Goullée, Hayley, Taylor, Rhonda L., Forrest, Alistair R. R., Laing, Nigel G., Ravenscroft, Gianina, Clayton, Joshua S.

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Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia by Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel

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Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy by Hofbauer, Stefan, Pignataro, Marcello, Borsari, Marco, Bortolotti, Carlo Augusto, Di Rocco, Giulia, Ravenscroft, Gianina, Furtmüller, Paul G., Obinger, Christian, Sola, Marco, Battistuzzi, Gianantonio

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

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KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy by Garg, Ankit, O’Rourke, Jason, Long, Chengzu, Doering, Jonathan, Ravenscroft, Gianina, Bezprozvannaya, Svetlana, Nelson, Benjamin R., Beetz, Nadine, Li, Lin, Chen, She, Laing, Nigel G., Grange, Robert W., Bassel-Duby, Rhonda, Olson, Eric N.

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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy by Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

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

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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele by Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H

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Bi-allelic mutations in MYL1 cause a severe congenital myopathy by Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco

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Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita by Ravenscroft, Gianina, Nolent, Flora, Rajagopalan, Sulekha, Meireles, Ana M., Paavola, Kevin J., Gaillard, Dominique, Alanio, Elisabeth, Buckland, Michael, Arbuckle, Susan, Krivanek, Michael, Maluenda, Jérome, Pannell, Stephen, Gooding, Rebecca, Ong, Royston W., Allcock, Richard J., Carvalho, Ellaine D.F., Carvalho, Maria D.F., Kok, Fernando, Talbot, William S., Melki, Judith, Laing, Nigel G.

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

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families by Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina

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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing by Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Ferguson, James M., Pineda, Sandy S., Scriba, Carolin K., Tchan, Michel, Fung, Victor, Ng, Karl, Cortese, Andrea, Houlden, Henry, Dobson-Stone, Carol, Fitzpatrick, Lauren, Halliday, Glenda, Ravenscroft, Gianina, Davis, Mark R., Laing, Nigel G., Fellner, Avi, Kennerson, Marina, Kumar, Kishore R., Deveson, Ira W.

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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores by Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.

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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores by Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. by Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R

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

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