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

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

por Sedghi, Maryam, Salari, Mehri, Moslemi, Ali-Reza, Kariminejad, Ariana, Davis, Mark, Goullée, Hayley, Olsson, Björn, Laing, Nigel, Tajsharghi, Homa
Publicado 2018

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

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

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

por Osborn, Daniel Peter Sayer, Emrahi, Leila, Clayton, Joshua, Tabrizi, Mehrnoush Toufan, Wan, Alex Yui Bong, Maroofian, Reza, Yazdchi, Mohammad, Garcia, Michael Leon Enrique, Galehdari, Hamid, Hesse, Camila, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Goullée, Hayley, Laing, Nigel, Jamshidi, Yalda, Tajsharghi, Homa
Publicado 2020

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

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