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Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01017-1
By:
- 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.
Publication type:
Article
Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients.
Published in:
Journal of NeuroVirology, 2016, v. 22, n. 4, p. 508, doi. 10.1007/s13365-015-0421-4
By:
- Goullee, Hayley;
- Wadley, Antonia;
- Cherry, Catherine;
- Allcock, Richard;
- Black, Michael;
- Kamerman, Peter;
- Price, Patricia
Publication type:
Article
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Published in:
2017
By:
- Kariminejad, Ariana;
- Dahl-Halvarsson, Martin;
- Ravenscroft, Gianina;
- Afroozan, Fariba;
- Keshavarz, Elham;
- Goullée, Hayley;
- Davis, Mark R.;
- Zonooz, Mehrshid Faraji;
- Najmabadi, Hossein;
- Laing, Nigel G.;
- Tajsharghi, Homa;
- Faraji Zonooz, Mehrshid
Publication type:
journal article
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.
Published in:
Skeletal Muscle, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13395-021-00278-1
By:
- Goullée, Hayley;
- Taylor, Rhonda L.;
- Forrest, Alistair R. R.;
- Laing, Nigel G.;
- Ravenscroft, Gianina;
- Clayton, Joshua S.
Publication type:
Article
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
By:
- 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.
Publication type:
Article
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.
Published in:
Molecular Diagnosis & Therapy, 2020, v. 24, n. 6, p. 641, doi. 10.1007/s40291-020-00495-2
By:
- Beecroft, Sarah J.;
- Lamont, Phillipa J.;
- Edwards, Samantha;
- Goullée, Hayley;
- Davis, Mark R.;
- Laing, Nigel G.;
- Ravenscroft, Gianina
Publication type:
Article
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 1, p. 20, doi. 10.1093/hmg/ddz214
By:
- McNamara, Elyshia L;
- Taylor, Rhonda L;
- Clayton, Joshua S;
- Goullee, Hayley;
- Dilworth, Kimberley L;
- Pinós, Tomàs;
- Brull, Astrid;
- Alexander, Ian E;
- Lisowski, Leszek;
- Ravenscroft, Gianina;
- Laing, Nigel G;
- Nowak, Kristen J
Publication type:
Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Published in:
Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
By:
- Weihl, Conrad C.;
- Töpf, Ana;
- Bengoechea, Rocio;
- Duff, Jennifer;
- Charlton, Richard;
- Garcia, Solange Kapetanovic;
- Domínguez-González, Cristina;
- Alsaman, Abdulaziz;
- Hernández-Laín, Aurelio;
- Franco, Luis Varona;
- Sanchez, Monica Elizabeth Ponce;
- Beecroft, Sarah J.;
- Goullee, Hayley;
- Daw, Jil;
- Bhadra, Ankan;
- True, Heather;
- Inoue, Michio;
- Findlay, Andrew R.;
- Laing, Nigel;
- Olivé, Montse
Publication type:
Article
A haplotype spanning P2X7R, P2X4R and CAMKK2 may mark susceptibility to pulmonary non-tuberculous mycobacterial disease.
Published in:
Immunogenetics, 2017, v. 69, n. 5, p. 287, doi. 10.1007/s00251-017-0972-z
By:
- Halstrom, Samuel;
- Cherry, Catherine;
- Black, Michael;
- Thomson, Rachel;
- Goullee, Hayley;
- Baltic, Svetlana;
- Allcock, Richard;
- Temple, Suzanna;
- Price, Patricia
Publication type:
Article

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