检索结果 - Gianina Ravenscroft

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  1. 1
    Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms

    Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms 由 Kristen L. Nowak, Gianina Ravenscroft, Nigel G. Laing

    出版 2012
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  2. 2
    Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

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

    出版 2014
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  3. 3
    Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards

    Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards 由 Jevin Parmar, Nigel G. Laing, Marina Kennerson, Gianina Ravenscroft

    出版 2024
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  4. 4
    Genetics of neuromuscular fetal akinesia in the genomics era

    Genetics of neuromuscular fetal akinesia in the genomics era 由 Sarah J. Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

    出版 2018
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  5. 5
    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor 由 Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

    出版 2017
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  6. 6
    Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

    Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies 由 Gianina Ravenscroft, Connie Jackaman, Scott Bringans, J. M. Papadimitriou, Lisa M. Griffiths, Elyshia McNamara, Anthony J. Bakker, Kay E. Davies, Nigel G. Laing, Kristen L. Nowak

    出版 2011
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  7. 7
    Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca2+ sensitivity

    Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca2+ sensitivity 由 Massimiliano Memo, Man Ching Leung, Douglas G. Ward, Cristobal G. dos Remedios, Sachio Morimoto, Lianfeng Zhang, Gianina Ravenscroft, Elyshia McNamara, Kristen L. Nowak, Steven B. Marston, Andrew E. Messer

    出版 2013
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  8. 8
    KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

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

    出版 2014
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  9. 9
    STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

    STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci 由 Harriet Dashnow, Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft, Amy Lacroix, Phillipa J. Lamont, Richard Roxburgh, Miriam Rodrigues, Mark R. Davis, Heather C. Mefford, Nigel G. Laing, Aaron R. Quinlan

    出版 2022
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  10. 10
    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity 由 Matt C. Danzi, Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Chloe M. Reuter, Jacinda B. Sampson, Chiara Folland, Matthew L. Wheeler, Anne O’Donnell‐Luria, Stefan Wuchty, Gianina Ravenscroft, Michael A. Eberle, Stephan Züchner

    出版 2025
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  11. 11
    Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

    Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres 由 Michaela Yuen, Sandra T. Cooper, Steven B. Marston, Kristen L. Nowak, Elyshia McNamara, Nancy Mokbel, Biljana Ilkovski, Gianina Ravenscroft, John Rendu, Josine M. de Winter, Lars Klinge, Alan H. Beggs, Kathryn N. North, Coen A. C. Ottenheijm, Nigel F. Clarke

    出版 2015
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  12. 12
    SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

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

    出版 2014
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  13. 13
    Expanding the phenotype of GMPPB mutations

    Expanding the phenotype of GMPPB mutations 由 Macarena Cabrera‐Serrano, Roula Ghaoui, Gianina Ravenscroft, R. Johnsen, Mark R. Davis, Alastair Corbett, Stephen W. Reddel, Carolyn M. Sue, Christina Liang, Leigh B. Waddell, Simranpreet Kaur, Monkol Lek, Kathryn N. North, Daniel G. MacArthur, Phillipa J. Lamont, Nigel F. Clarke, Nigel G. Laing

    出版 2015
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  14. 14
    Bi-allelic mutations in MYL1 cause a severe congenital myopathy

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

    出版 2018
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  15. 15
    A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

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

    出版 2020
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  16. 16
    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience 由 Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa Atkinson, C. Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen L. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing

    出版 2020
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  17. 17
    A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

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

    出版 2020
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  18. 18
    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

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

    出版 2015
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  19. 19
    Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

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

    出版 2010
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  20. 20
    Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

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

    出版 2022
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