Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

por Ochala, Julien, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
Publicado 2012

Recent advances in understanding congenital myopathies

por Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Publicado 2018

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

por Goullée, Hayley, Taylor, Rhonda L., Forrest, Alistair R. R., Laing, Nigel G., Ravenscroft, Gianina, Clayton, Joshua S.
Publicado 2021

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

por Sedghi, Maryam, Moslemi, Ali‐Reza, Olive, Montse, Etemadifar, Masoud, Ansari, Behnaz, Nasiri, Jafar, Emrahi, Leila, Mianesaz, Hamid‐Reza, Laing, Nigel G., Tajsharghi, Homa
Publicado 2019

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

por Lee, Richard G., Sedghi, Maryam, Salari, Mehri, Shearwood, Anne-Marie J., Stentenbach, Maike, Kariminejad, Ariana, Goullee, Hayley, Rackham, Oliver, Laing, Nigel G., Tajsharghi, Homa, Filipovska, Aleksandra
Publicado 2018

STRetch: detecting and discovering pathogenic short tandem repeat expansions

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

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

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

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

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

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

por Hobbelink, Sanne M. R., Brockley, Cain R., Kennedy, Rachel A., Carroll, Kate, de Valle, Katy, Rao, Padma, Davis, Mark R., Laing, Nigel G., Voermans, Nicol C., Ryan, Monique M., Yiu, Eppie M.
Publicado 2018

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

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

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

por Messineo, Adriana M., Gineste, Charlotte, Sztal, Tamar E., McNamara, Elyshia L., Vilmen, Christophe, Ogier, Augustin C., Hahne, Dorothee, Bendahan, David, Laing, Nigel G., Bryson-Richardson, Robert J., Gondin, Julien, Nowak, Kristen J.
Publicado 2018

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

por 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.
Publicado 2017

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

por Dashnow, Harriet, Pedersen, Brent S., Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J., Ravenscroft, Gianina, LaCroix, Amy J., Lamont, Phillipa, Roxburgh, Richard H., Rodrigues, Miriam J., Davis, Mark, Mefford, Heather C., Laing, Nigel G., Quinlan, Aaron R.
Publicado 2022

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

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

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

por Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W, Davis, Mark R, Ravenscroft, Gianina
Publicado 2023

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

por Sztal, Tamar E., Zhao, Mo, Williams, Caitlin, Oorschot, Viola, Parslow, Adam C., Giousoh, Aminah, Yuen, Michaela, Hall, Thomas E., Costin, Adam, Ramm, Georg, Bird, Phillip I., Busch-Nentwich, Elisabeth M., Stemple, Derek L., Currie, Peter D., Cooper, Sandra T., Laing, Nigel G., Nowak, Kristen J., Bryson-Richardson, Robert J.
Publicado 2015

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

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

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

por Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L., Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M., Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B., Machado-Costa, Marcela C., Wallgren-Pettersson, Carina, Laing, Nigel G., Nigro, Vincenzo, Vainzof, Mariz
Publicado 2022

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

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

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

por Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Ferguson, James M., Pineda, Sandy S., Scriba, Carolin K., Tchan, Michel, Fung, Victor, Ng, Karl, Cortese, Andrea, Houlden, Henry, Dobson-Stone, Carol, Fitzpatrick, Lauren, Halliday, Glenda, Ravenscroft, Gianina, Davis, Mark R., Laing, Nigel G., Fellner, Avi, Kennerson, Marina, Kumar, Kishore R., Deveson, Ira W.
Publicado 2022