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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Published in:
2015
By:
- Todd, Emily J.;
- Yau, Kyle S.;
- Ong, Royston;
- Slee, Jennie;
- McGillivray, George;
- Barnett, Christopher P.;
- Haliloglu, Goknur;
- Talim, Beril;
- Akcoren, Zuhal;
- Kariminejad, Ariana;
- Cairns, Anita;
- Clarke, Nigel F.;
- Freckmann, Mary-Louise;
- Romero, Norma B.;
- Williams, Denise;
- Sewry, Caroline A.;
- Colley, Alison;
- Ryan, Monique M.;
- Kiraly-Borri, Cathy;
- Sivadorai, Padma
Publication type:
journal article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-117
By:
- Amburgey, Kimberly;
- Bailey, Angela;
- Hwang, Jean H.;
- Tarnopolsky, Mark A.;
- Bonnemann, Carsten G.;
- Medne, Livija;
- Mathews, Katherine D.;
- Collins, James;
- Daube, Jasper R.;
- Wellman, Gregory P.;
- Callaghan, Brian;
- Clarke, Nigel F.;
- Dowling, James J.
Publication type:
Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Published in:
2013
By:
- Amburgey, Kimberly;
- Bailey, Angela;
- Hwang, Jean H;
- Tarnopolsky, Mark A;
- Bonnemann, Carsten G;
- Medne, Livija;
- Mathews, Katherine D;
- Collins, James;
- Daube, Jasper R;
- Wellman, Gregory P;
- Callaghan, Brian;
- Clarke, Nigel F;
- Dowling, James J
Publication type:
journal article
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
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 659, doi. 10.1002/ajmg.a.35840
By:
- Oates, Emily C.;
- Payne, Jonathan M.;
- Foster, Sheryl L.;
- Clarke, Nigel F.;
- North, Kathryn N.
Publication type:
Article
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.
Published in:
Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0037-7
By:
- de Winter, Josine M.;
- Joureau, Barbara;
- Sequeira, Vasco;
- Clarke, Nigel F.;
- van der Velden, Jolanda;
- Stienen, Ger J. M.;
- Granzier, Henk;
- Beggs, Alan H.;
- Ottenheijm, Coen A. C.
Publication type:
Article
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Published in:
Muscle & Nerve, 2012, v. 46, n. 2, p. 275, doi. 10.1002/mus.23349
By:
- Tasca, Giorgio;
- Odgerel, Zagaa;
- Monforte, Mauro;
- Aurino, Stefania;
- Clarke, Nigel F.;
- Waddell, Leigh B.;
- Udd, Bjarne;
- Ricci, Enzo;
- Goldfarb, Lev G.
Publication type:
Article
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.
Published in:
Muscle & Nerve, 2011, v. 44, n. 2, p. 280, doi. 10.1002/mus.22118
By:
- Waddell, Leigh B.;
- Monnier, Nicole;
- Cooper, Sandra T.;
- North, Kathryn N.;
- Clarke, Nigel F.
Publication type:
Article
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7
By:
- Schofield, Deborah;
- Alam, Khurshid;
- Douglas, Lyndal;
- Shrestha, Rupendra;
- MacArthur, Daniel G.;
- Davis, Mark;
- Laing, Nigel G.;
- Clarke, Nigel F.;
- Burns, Joshua;
- Cooper, Sandra T.;
- North, Kathryn N.;
- Sandaradura, Sarah A.;
- O'Grady, Gina L.
Publication type:
Article
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169
By:
- O'Grady, Gina L;
- Best, Heather A;
- Oates, Emily C;
- Kaur, Simranpreet;
- Charlton, Amanda;
- Brammah, Susan;
- Punetha, Jaya;
- Kesari, Akanchha;
- North, Kathryn N;
- Ilkovski, Biljana;
- Hoffman, Eric P;
- Clarke, Nigel F
Publication type:
Article
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
By:
- Tajsharghi, Homa;
- Hammans, Simon;
- Lindberg, Christopher;
- Lossos, Alexander;
- Clarke, Nigel F;
- Mazanti, Ingrid;
- Waddell, Leigh B;
- Fellig, Yakov;
- Foulds, Nicola;
- Katifi, Haider;
- Webster, Richard;
- Raheem, Olayinka;
- Udd, Bjarne;
- Argov, Zohar;
- Oldfors, Anders
Publication type:
Article
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 452, doi. 10.1038/ejhg.2010.212
By:
- Clarke, Nigel F.;
- Maugenre, Svetlana;
- Vandebrouck, Aurélie;
- Urtizberea, J. Andoni;
- Willer, Tobias;
- Peat, Rachel A.;
- Gray, Françoise;
- Bouchet, Céline;
- Manya, Hiroshi;
- Vuillaumier-Barrot, Sandrine;
- Endo, Tamao;
- Chouery, Eliane;
- Campbell, Kevin P.;
- Mégarbané, André;
- Guicheney, Pascale
Publication type:
Article
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
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1714, doi. 10.1093/brain/aws108
By:
- Oates, Emily C.;
- Reddel, Stephen;
- Rodriguez, Michael L.;
- Gandolfo, Luke C.;
- Bahlo, Melanie;
- Hawke, Simon H.;
- Lamandé, Shireen R.;
- Clarke, Nigel F.;
- North, Kathryn N.
Publication type:
Article
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Published in:
2018
By:
- Joureau, Barbara;
- de Winter, Josine Marieke;
- Conijn, Stefan;
- Bogaards, Sylvia J. P.;
- Kovacevic, Igor;
- Kalganov, Albert;
- Persson, Malin;
- Lindqvist, Johan;
- Stienen, Ger J. M.;
- Irving, Thomas C.;
- Ma, Weikang;
- Yuen, Michaela;
- Clarke, Nigel F.;
- Rassier, Dilson E.;
- Malfatti, Edoardo;
- Romero, Norma B.;
- Beggs, Alan H.;
- Ottenheijm, Coen A. C.
Publication type:
journal article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
Published in:
2016
By:
- O'Grady, Gina L.;
- Lek, Monkol;
- Lamande, Shireen R.;
- Waddell, Leigh;
- Oates, Emily C.;
- Punetha, Jaya;
- Ghaoui, Roula;
- Sandaradura, Sarah A.;
- Best, Heather;
- Kaur, Simranpreet;
- Davis, Mark;
- Laing, Nigel G.;
- Muntoni, Francesco;
- Hoffman, Eric;
- MacArthur, Daniel G.;
- Clarke, Nigel F.;
- Cooper, Sandra;
- North, Kathryn
Publication type:
journal article
Mutation-specific effects on thin filament length in thin filament myopathy.
Published in:
2016
By:
- Winter, Josine M. de;
- Joureau, Barbara;
- Lee, Eun‐Jeong;
- Kiss, Balázs;
- Yuen, Michaela;
- Gupta, Vandana A.;
- Pappas, Christopher T.;
- Gregorio, Carol C.;
- Stienen, Ger J. M.;
- Edvardson, Simon;
- Wallgren‐Pettersson, Carina;
- Lehtokari, Vilma‐Lotta;
- Pelin, Katarina;
- Malfatti, Edoardo;
- Romero, Norma B.;
- Engelen, Baziel G. van;
- Voermans, Nicol C.;
- Donkervoort, Sandra;
- Bönnemann, C. G.;
- Clarke, Nigel F.
Publication type:
journal article
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Published in:
2015
By:
- Donkervoort, Sandra;
- Papadaki, Maria;
- de Winter, Josine M.;
- Neu, Matthew B.;
- Kirschner, Janbernd;
- Bolduc, Véronique;
- Yang, Michele L.;
- Gibbons, Melissa A.;
- Hu, Ying;
- Dastgir, Jahannaz;
- Leach, Meganne E.;
- Rutkowski, Anne;
- Foley, A. Reghan;
- Krüger, Marcus;
- Wartchow, Eric P.;
- McNamara, Elyshia;
- Ong, Royston;
- Nowak, Kristen J.;
- Laing, Nigel G.;
- Clarke, Nigel F.
Publication type:
journal article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Published in:
Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
By:
- Quijano-Roy, Susana;
- Mbieleu, Blaise;
- Bönnemann, Carsten G.;
- Jeannet, Pierre-Yves;
- Colomer, Jaume;
- Clarke, Nigel F.;
- Cuisset, Jean-Marie;
- Roper, Helen;
- De Meirleir, Linda;
- D'Amico, Adele;
- Ben Yaou, Rabah;
- Nascimento, Andrés;
- Barois, Annie;
- Demay, Laurence;
- Bertini, Enrico;
- Ferreiro, Ana;
- Sewry, Caroline A.;
- Romero, Norma B.;
- Ryan, Monique;
- Muntoni, Francesco
Publication type:
Article
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
The pathogenesis of ACTA1‐related congenital fiber type disproportion.
Published in:
Annals of Neurology, 2007, v. 61, n. 6, p. 552, doi. 10.1002/ana.21112
By:
- Nigel F. Clarke;
- Biljana Ilkovski;
- Sandra Cooper;
- Valentina A. Valova;
- Phillip J. Robinson;
- Ikuya Nonaka;
- Juan‐Juan Feng;
- Steven Marston;
- Kathryn North
Publication type:
Article
SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance.
Published in:
Annals of Neurology, 2006, v. 59, n. 3, p. 546
By:
- Nigel F. Clarke;
- Warren Kidson;
- Susana Quijano‐Roy;
- Brigitte Estournet;
- Ana Ferreiro;
- Pascale Guicheney;
- James I. Manson;
- Andrew J. Kornberg;
- Lloyd K. Shield;
- Kathryn N. North
Publication type:
Article
A novel X‐linked form of congenital fiber‐type disproportion.
Published in:
Annals of Neurology, 2005, v. 58, n. 5, p. 767
By:
- Nigel F. Clarke;
- Robert L. L. Smith;
- Melanie Bahlo;
- Kathryn N. North
Publication type:
Article
Actin mutations are one cause of congenital fibre type disproportion.
Published in:
Annals of Neurology, 2004, v. 56, n. 5, p. 689
By:
- Nigel G. Laing;
- Nigel F. Clarke;
- Danielle E. Dye;
- Khema Liyanage;
- Kendall R. Walker;
- Yasuaki Kobayashi;
- Shuichi Shimakawa;
- Tohru Hagiwara;
- Robert Ouvrier;
- John C. Sparrow;
- Ichizo Nishino;
- Kathryn N. North;
- Ikuya Nonaka
Publication type:
Article
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
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
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

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