Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.

by Julien Ochala, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak
Published 2012-01-01

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel

by Hayley Goullée, Rhonda L. Taylor, Alistair R. R. Forrest, Nigel G. Laing, Gianina Ravenscroft, Joshua S. Clayton
Published 2021-09-01

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

by Maryam Sedghi, Ali‐Reza Moslemi, Montse Olive, Masoud Etemadifar, Behnaz Ansari, Jafar Nasiri, Leila Emrahi, Hamid‐Reza Mianesaz, Nigel G. Laing, Homa Tajsharghi
Published 2019-11-01

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic v...

by Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Published 2021-08-01

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in...

by Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Published 2021-05-01

STRetch: detecting and discovering pathogenic short tandem repeat expansions

by Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack
Published 2018-08-01

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

by Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen
Published 2020-02-01

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation

by Jordan K. Boutilier, Rhonda L. Taylor, Tracy Mann, Elyshia McNamara, Gary J. Hoffman, Jacob Kenny, Rodney J. Dilley, Peter Henry, Grant Morahan, Nigel G. Laing, Kristen J. Nowak
Published 2017-09-01

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

by Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak
Published 2011-01-01

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 Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady
Published 2017-03-01

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

by Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak
Published 2020-08-01

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

by Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing
Published 2020-03-01

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

by Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Published 2018-12-01

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

by Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Published 2020-02-01

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

by Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, Gregory A. Cox
Published 2020-10-01

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

by Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, Gregory A. Cox
Published 2020-09-01

Haploinsufficiency of SF3B2 causes craniofacial microsomia

by Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Published 2021-08-01

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

by Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing
Published 2019-03-01

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

by Frances Theunissen, Frances Theunissen, Ryan S. Anderton, Ryan S. Anderton, Ryan S. Anderton, Frank L. Mastaglia, Frank L. Mastaglia, Loren L. Flynn, Loren L. Flynn, Loren L. Flynn, Samantha J. Winter, Samantha J. Winter, Ian James, Richard Bedlack, Stuart Hodgetts, Stuart Hodgetts, Sue Fletcher, Sue Fletcher, Steve D. Wilton, Steve D. Wilton, Steve D. Wilton, Nigel G. Laing, Mandi MacShane, Merrilee Needham, Merrilee Needham, Merrilee Needham, Ann Saunders, Alan Mackay-Sim, Alan Mackay-Sim, Ze’ev Melamed, Ze’ev Melamed, John Ravits, Don W. Cleveland, Don W. Cleveland, Don W. Cleveland, P. Anthony Akkari, P. Anthony Akkari, P. Anthony Akkari, P. Anthony Akkari
Published 2021-03-01