Search Results - Nigel G. Laing

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

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

    Published 2012
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Gianina Ravenscroft, Nigel G. Laing, Carsten G. Bönnemann

    Published 2014
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

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

    Published 1997
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Jevin Parmar, Nigel G. Laing, Marina Kennerson, Gianina Ravenscroft

    Published 2024
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Heli Lehtonen, Taina Sipponen, Sari Tojkander, Riitta Karikoski, Heikki Järvinen, Nigel G. Laing, Pekka Lappalainen, Lauri A. Aaltonen, Sari Tuupanen

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Genetics of neuromuscular fetal akinesia in the genomics era

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

    Published 2018
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by Vilma‐Lotta Lehtokari, Rebecca S. Greenleaf, Elizabeth T. DeChene, Mutsumi Kellinsalmi, Katarina Pelin, Nigel G. Laing, Alan H. Beggs, Carina Wallgren‐Pettersson

    Published 2009
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Céline F. Costa, Heidi Rommelaere, Davy Waterschoot, Kamaljit K. Sethi, Kristen L. Nowak, Nigel G. Laing, Christophe Ampè, Laura M. Machesky

    Published 2004
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Phillipa J. Lamont, B. Udd, Francis Mastaglia, Marjolein Visser, Peter Hedera, Thomas Voït, Leslie Bridges, V. Fabian, Annemieke J.M. Rozemüller, Nigel G. Laing

    Published 2005
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2002
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2006
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Approach to the diagnosis of congenital myopathies

    Approach to the diagnosis of congenital myopathies by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

    KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy by 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

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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>) by 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

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: