检索结果 - Nigel G. Laing

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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
    Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

    Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 由 Kathryn N. North, Nigel G. Laing, Carina Wallgren‐Pettersson

    出版 1997
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  4. 4
    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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  5. 5
    Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ-2 With Autosomal Dominant Familial Visceral Myopathy

    Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ-2 With Autosomal Dominant Familial Visceral Myopathy 由 Heli Lehtonen, Taina Sipponen, Sari Tojkander, Riitta Karikoski, Heikki Järvinen, Nigel G. Laing, Pekka Lappalainen, Lauri A. Aaltonen, Sari Tuupanen

    出版 2012
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  6. 6
    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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  7. 7
    The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

    The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence 由 Vilma‐Lotta Lehtokari, Rebecca S. Greenleaf, Elizabeth T. DeChene, Mutsumi Kellinsalmi, Katarina Pelin, Nigel G. Laing, Alan H. Beggs, Carina Wallgren‐Pettersson

    出版 2009
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  8. 8
    Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects

    Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects 由 Céline F. Costa, Heidi Rommelaere, Davy Waterschoot, Kamaljit K. Sethi, Kristen L. Nowak, Nigel G. Laing, Christophe Ampè, Laura M. Machesky

    出版 2004
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  9. 9
    Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

    Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy 由 Phillipa J. Lamont, B. Udd, Francis Mastaglia, Marjolein Visser, Peter Hedera, Thomas Voït, Leslie Bridges, V. Fabian, Annemieke J.M. Rozemüller, Nigel G. Laing

    出版 2005
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  10. 10
    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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  11. 11
    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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  12. 12
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions 由 Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark R. Davis, Phillipa J. Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack

    出版 2018
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  13. 13
    Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

    Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2 由 Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma‐Lotta Lehtokari, Carina Wallgren‐Pettersson, William Wallefeld, Nigel G. Laing, Basil T. Darras, Sutherland K. Maciver, Philip R. Dormitzer, Alan H. Beggs

    出版 2006
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  14. 14
    Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees

    Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees 由 Mark R. Davis, Rosemary L. Brown, Amy L. Dickson, Hollie Horton, Danielle R. James, Nigel G. Laing, Robert Q. Marston, Melanie Norgate, David C. Perlman, Neil Pollock, Kathryn M. Stowell

    出版 2002
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  15. 15
    Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

    Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy 由 Vilma‐Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline A. Sewry, C. Angelini, Kate Bushby, Peter Van den Bergh, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren‐Pettersson

    出版 2006
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  16. 16
    Approach to the diagnosis of congenital myopathies

    Approach to the diagnosis of congenital myopathies 由 Kathryn N. North, Ching H. Wang, Nigel F. Clarke, Heinz Jungbluth, Mariz Vainzof, James J. Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H. Beggs, Caroline A. Sewry, Nigel G. Laing, C. Bönnemann

    出版 2013
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  17. 17
    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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  18. 18
    Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

    Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases 由 Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark R. Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina O’Grady

    出版 2017
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  19. 19
    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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  20. 20
    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>) 由 Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, Hanns Lochmà ⁄ ller, Claudio Graziano, Stella Mitrani‐Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs, Kristen L. Nowak

    出版 2009
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