Works matching AU North, Kathryn N.

Results: 108
    1

    Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments.

    Published in:
    Journal of Neuro-Oncology, 2025, v. 174, n. 1, p. 65, doi. 10.1007/s11060-025-05024-x
    By:
    • Barton, Belinda;
    • Wolters, Pamela L.;
    • Walsh, Karin S.;
    • Ullrich, Nicole J.;
    • Rosser, Tena;
    • Tonsgard, James;
    • Viskochil, David;
    • Schorry, Elizabeth;
    • Klesse, Laura J.;
    • Fisher, Michael J.;
    • Gutmann, David H.;
    • Packer, Roger J.;
    • Korf, Bruce;
    • Acosta, Maria T.;
    • North, Kathryn N.;
    • Payne, Jonathan M.
    Publication type:
    Article
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    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
    By:
    • Sandaradura, Sarah A.;
    • Bournazos, Adam;
    • Mallawaarachchi, Amali;
    • Cummings, Beryl B.;
    • Waddell, Leigh B.;
    • Jones, Kristi J.;
    • Troedson, Christopher;
    • Sudarsanam, Annapurna;
    • Nash, Benjamin M.;
    • Peters, Gregory B.;
    • Algar, Elizabeth M.;
    • MacArthur, Daniel G.;
    • North, Kathryn N.;
    • Brammah, Susan;
    • Charlton, Amanda;
    • Laing, Nigel G.;
    • Wilson, Meredith J.;
    • Davis, Mark R.;
    • Cooper, Sandra T.
    Publication type:
    Article
    4

    Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies.

    Published in:
    Human Mutation, 2014, v. 35, n. 12, p. 1418, doi. 10.1002/humu.22693
    By:
    • Lehtokari, Vilma‐Lotta;
    • Kiiski, Kirsi;
    • Sandaradura, Sarah A.;
    • Laporte, Jocelyn;
    • Repo, Pauliina;
    • Frey, Jennifer A.;
    • Donner, Kati;
    • Marttila, Minttu;
    • Saunders, Carol;
    • Barth, Peter G.;
    • den Dunnen, Johan T.;
    • Beggs, Alan H.;
    • Clarke, Nigel F.;
    • North, Kathryn N.;
    • Laing, Nigel G.;
    • Romero, Norma B.;
    • Winder, Thomas L.;
    • Pelin, Katarina;
    • Wallgren‐Pettersson, Carina
    Publication type:
    Article
    5

    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

    Published in:
    Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278
    By:
    • Clarke, Nigel F.;
    • Waddell, Leigh B.;
    • Cooper, Sandra T.;
    • Perry, Margaret;
    • Smith, Robert L.L.;
    • Kornberg, Andrew J.;
    • Muntoni, Francesco;
    • Lillis, Suzanne;
    • Straub, Volker;
    • Bushby, Kate;
    • Guglieri, Michela;
    • King, Mary D.;
    • Farrell, Michael A.;
    • Marty, Isabelle;
    • Lunardi, Joel;
    • Monnier, Nicole;
    • North, Kathryn N.
    Publication type:
    Article
    6

    Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274
    By:
    • Ghaoui, Roula;
    • Cooper, Sandra T.;
    • Lek, Monkol;
    • Jones, Kristi;
    • Corbett, Alastair;
    • Reddel, Stephen W.;
    • Needham, Merrilee;
    • Liang, Christina;
    • Waddell, Leigh B.;
    • Nicholson, Garth;
    • O'Grady, Gina;
    • Kaur, Simranpreet;
    • Ong, Royston;
    • Davis, Mark;
    • Sue, Carolyn M.;
    • Laing, Nigel G.;
    • North, Kathryn N.;
    • MacArthur, Daniel G.;
    • Clarke, Nigel F.
    Publication type:
    Article
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    Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.

    Published in:
    Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
    By:
    • Nowak, Kristen J.;
    • Wattanasirichaigoon, Duangrurdee;
    • Goebel, Hans H.;
    • Wilce, Matthew;
    • Pelin, Katarina;
    • Donner, Kati;
    • Jacob, Rebecca L.;
    • Hübner, Christoph;
    • Oexle, Konrad;
    • Anderson, Janice R.;
    • Verity, Christopher M.;
    • North, Kathryn N.;
    • Iannaccone, Susan T.;
    • Müller, Clemens R.;
    • Nürnberg, Peter;
    • Muntoni, Francesco;
    • Sewry, Caroline;
    • Hughes, Imelda;
    • Sutphen, Rebecca
    Publication type:
    Article
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    The kids are OK: it is discrimination, not same-sex parents, that harms children.

    Published in:
    Medical Journal of Australia, 2017, v. 207, n. 9, p. 1, doi. 10.5694/mja17.00943
    By:
    • Knight, Ken W.;
    • Stephenson, Sarah E. M.;
    • West, Sue;
    • Delatycki, Martin B.;
    • Jones, Cheryl A.;
    • Little, Melissa H.;
    • Patton, George C.;
    • Sawyer, Susan M.;
    • Skinner, S. Rachel;
    • Telfer, Michelle M.;
    • Wake, Melissa;
    • North, Kathryn N.;
    • Oberklaid, Frank
    Publication type:
    Article
    15
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    MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes.

    Published in:
    Journal of Cell Biology, 2009, v. 185, n. 7, p. 1259, doi. 10.1083/jcb.200903053
    By:
    • Bastiani, Michele;
    • Liu, Libin;
    • Hill, Michelle M.;
    • Jedrychowski, Mark P.;
    • Nixon, Susan J.;
    • Lo, Harriet P.;
    • Abankwa, Daniel;
    • Luetterforst, Robert;
    • Fernandez-Rojo, Manuel;
    • Breen, Michael R.;
    • Gygi, Steven P.;
    • Vinten, Jorgen;
    • Walser, Piers J.;
    • North, Kathryn N.;
    • Hancock, John F.;
    • Pilch, Paul F.;
    • Parton, Robert G.
    Publication type:
    Article
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    Muscle weakness in TPM3-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 22, p. 6278, doi. 10.1093/hmg/ddv334
    By:
    • Yuen, Michaela;
    • Cooper, Sandra T.;
    • Marston, Steve B.;
    • Nowak, Kristen J.;
    • McNamara, Elyshia;
    • Mokbel, Nancy;
    • Ilkovski, Biljana;
    • Ravenscroft, Gianina;
    • Rendu, John;
    • de Winter, Josine M.;
    • Klinge, Lars;
    • Beggs, Alan H.;
    • North, Kathryn N.;
    • Ottenheijm, Coen A. C.;
    • Clarke, Nigel F.
    Publication type:
    Article
    35

    Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
    By:
    • Ilkovski, Biljana;
    • Pagnamenta, Alistair T.;
    • O'Grady, Gina L.;
    • Kinoshita, Taroh;
    • Howard, Malcolm F.;
    • Lek, Monkol;
    • Thomas, Brett;
    • Turner, Anne;
    • Christodoulou, John;
    • Sillence, David;
    • Knight, Samantha J. L.;
    • Popitsch, Niko;
    • Keays, David A.;
    • Anzilotti, Consuelo;
    • Goriely, Anne;
    • Waddell, Leigh B.;
    • Brilot, Fabienne;
    • North, Kathryn N.;
    • Noriyuki Kanzawa;
    • Macarthur, Daniel G.
    Publication type:
    Article
    36

    NF1 is a critical regulator of muscle development and metabolism.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 5, p. 1250, doi. 10.1093/hmg/ddt515
    By:
    • Sullivan, Kate;
    • El-Hoss, Jad;
    • Quinlan, Kate G.R.;
    • Deo, Nikita;
    • Garton, Fleur;
    • Seto, Jane T.C.;
    • Gdalevitch, Marie;
    • Turner, Nigel;
    • Cooney, Gregory J.;
    • Kolanczyk, Mateusz;
    • North, Kathryn N.;
    • Little, David G.;
    • Schindeler, Aaron
    Publication type:
    Article
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    Expanding the phenotype of GMPPB mutations.

    Published in:
    Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013
    By:
    • Cabrera-Serrano, Macarena;
    • Ghaoui, Roula;
    • Ravenscroft, Gianina;
    • Johnsen, Russell D.;
    • Davis, Mark R.;
    • Corbett, Alastair;
    • Reddel, Stephen;
    • Sue, Carolyn M.;
    • Christina Liang;
    • Waddell, Leigh B.;
    • Kaur, Simranpreet;
    • Lek, Monkol;
    • North, Kathryn N.;
    • MacArthur, Daniel G.;
    • Lamont, Phillipa J.;
    • Clarke, Nigel F.;
    • Laing, Nigel G.
    Publication type:
    Article
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    Mechanisms underlying intranuclear rod formation.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3275, doi. 10.1093/brain/awm247
    By:
    • Ana Domazetovska;
    • Biljana Ilkovski;
    • Sandra T. Cooper;
    • Majid Ghoddusi;
    • Edna C. Hardeman;
    • Laurie S. Minamide;
    • Peter W. Gunning;
    • James R. Bamburg;
    • Kathryn N. North
    Publication type:
    Article
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    Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity.

    Published in:
    Annals of Neurology, 2008, v. 64, n. 3, p. 294, doi. 10.1002/ana.21439
    By:
    • Pace, Rishika A.;
    • Peat, Rachel A.;
    • Baker, Naomi L.;
    • Zamurs, Laura;
    • Mörgelin, Matthias;
    • Irving, Melita;
    • Adams, Naomi E.;
    • Bateman, John F.;
    • Mowat, David;
    • Smith, Nicholas J. C.;
    • Lamont, Phillipa J.;
    • Moore, Steven A.;
    • Mathews, Katherine D.;
    • North, Kathryn N.;
    • Lamandé, Shireen R.
    Publication type:
    Article
    50

    Mutations in TPM3 are a common cause of congenital fiber type disproportion.

    Published in:
    Annals of Neurology, 2008, v. 63, n. 3, p. 329, doi. 10.1002/ana.21308
    By:
    • Clarke, Nigel F.;
    • Kolski, Hanna;
    • Dye, Danielle E.;
    • Lim, Esther;
    • Smith, Robert L. L.;
    • Patel, Rakesh;
    • Fahey, Michael C.;
    • Bellance, Rémi;
    • Romero, Norma B.;
    • Johnson, Edward S.;
    • Labarre-Vila, Annick;
    • Monnier, Nicole;
    • Laing, Nigel G.;
    • North, Kathryn N.
    Publication type:
    Article