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  • Gina Ravenscroft

A CMT family with AD and AR inheritance of a MME variant

Ravenscroft, G., Ong, R., Laing, N. & Lamont, P., Oct 2019, In : Neuromuscular Disorders. 29, p. S201-S201 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Beecroft, S. J., Cortese, A., Sullivan, R., Yau, W. Y., Dyer, Z., Wu, T. Y., Mulroy, E., Pelosi, L., Rodrigues, M., Taylor, R., Mossman, S., Leadbetter, R., Cleland, J., Anderson, T., Ravenscroft, G., Laing, N. G., Houlden, H., Reilly, M. M. & Roxburgh, R. H., 1 Sep 2020, In : Brain : a journal of neurology. 143, 9, p. 2673-2680 8 p.

Research output: Contribution to journalArticle

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In : Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
368 Downloads (Pure)

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Bonnin, E., Cabochette, P., Filosa, A., Jühlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., Ravenscroft, G., Lombard, M., Port, S., Spillner, C., Janssens, S., Roets, E., Van Dorpe, J., Lammens, M. & 6 others, Kehlenbach, R. H., Ficner, R., Laing, N. G., Hoffmann, K., Vanhollebeke, B. & Fahrenkrog, B., 1 Dec 2018, In : PLoS Genetics. 14, 12, e1007845.

Research output: Contribution to journalArticle

Open Access
9 Citations (Scopus)

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, A., Gordon, C. T., Godard, F., Ravenscroft, G., Oufadem, M., Vasnier, C., Rambaud, C., Nitschke, P., Bole-Feysot, C., Masson, C., Dauger, S., Longman, C., Laing, N. G., Kugener, B., Bonnet, D., Bouvagnet, P., Di Filippo, S., Probst, V., Redon, R., Charron, P. & 7 others, Rötig, A., Lyonnet, S., Dautant, A., De Pontual, L., Di Rago, J-P., Delahodde, A. & Amiel, J., 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 666-673

Research output: Contribution to journalArticle

Open Access
14 Citations (Scopus)

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

Siciliani Scalco, R., Gardiner, A. R., Pitceathly, R. D. S., Hilton-Jones, D., Schapira, A. H., Turner, C., Parton, M., Desikan, M., Barresi, R., Marsh, J., Manzur, A. Y., Childs, A-M., Feng, L., Murphy, E., Lamont, P. J., Ravenscroft, G., Wallefeld, W., Davis, M. R., Laing, N. G., Holton, J. L. & 7 others, Fiahlo, D., Bushby, K., Hanna, M. G., Phadke, R., Jungbluth, H., Houlden, H. & Quinlivan, R., Aug 2016, In : Neuromuscular Disorders. 26, 8, p. 504-510

Research output: Contribution to journalArticle

Open Access
File
19 Citations (Scopus)
366 Downloads (Pure)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Toepf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H-M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E-J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Boennemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Open Access
29 Citations (Scopus)

Cylindrical spirals in two families: Clinical and genetic investigations

Beecroft, S. J., Olive, M., Quereda, L. G., Gallano, P., Ojanguren, I., McLean, C., McCombe, P., Laing, N. G. & Ravenscroft, G., Feb 2020, In : Neuromuscular Disorders. 30, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics

Ravenscroft, G., Clayton, J., Faiz, F., Milnes, D., Cincotta, R., Moon, P., McGrath, P., Colley, A., Chao, K., Laing, N. & Davis, M., Oct 2019, In : Neuromuscular Disorders. 29, p. S119-S119 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Genetics of neuromuscular fetal akinesia in the genomics era

Beecroft, S. J., Lombard, M., Mowat, D., McLean, C., Cairns, A., Davis, M., Laing, N. G. & Ravenscroft, G., 1 Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 505-514 10 p.

Research output: Contribution to journalReview article

12 Citations (Scopus)

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

González-Mera, L., Ravenscroft, G., Cabrera-Serrano, M., Ermolova, N., Domínguez-González, C., Arteche-López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián-Morilla, E., Cooper, S. T., Waddell, L., Reardon, K., Corbett, A., Hernandez-Laín, A., Sanchez, A., Esteban Perez, J. & 5 others, Paradas-Lopez, C., Rivas-Infante, E., Spencer, M., Laing, N. & Olivé, M., 2020, (Accepted/In press) In : Neuropathology and Applied Neurobiology.

Research output: Contribution to journalArticle

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

Zaharieva, I. T., Thor, M. G., Oates, E. C., Van Karnebeek, C., Hendson, G., Blom, E., Witting, N., Rasmussen, M., Gabbett, M. T., Ravenscroft, G., Sframeli, M., Suetterlin, K., Sarkozy, A., D'Argenzio, L., Hartley, L., Matthews, E., Pitt, M., Vissing, J., Ballegaard, M., Krarup, C. & 20 others, Slørdahl, A., Halvorsen, H., Ye, X. C., Zhang, L. H., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M. R., Feng, L., Phadke, R., Sewry, C. A., Morgan, J. E., Laing, N., Vallance, H., Ruben, P., Hanna, M. G., Lewis, S., Kamsteeg, E. J., Männikkö, R. & Muntoni, F., Mar 2016, In : Brain. 139, 3, p. 674-691 18 p.

Research output: Contribution to journalArticle

Open Access
62 Citations (Scopus)
9 Citations (Scopus)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brožková, D. Š., Haberlova, J., Mazanec, R., Tao, F., Saghira, C., Abreu, L., Courel, S., Powell, E., Buglo, E., Bis, D. M., Baxter, M. F., Ong, R. W. & 14 others, Marns, L., Lee, Y. C., Bai, Y., Isom, D. G., Barro-Soria, R., Chung, K. W., Scherer, S. S., Larsson, H. P., Laing, N. G., Choi, B. O., Seeman, P., Shy, M. E., Santoro, L. & Zuchner, S., 1 Mar 2018, In : American Journal of Human Genetics. 102, 3, p. 505-514 10 p.

Research output: Contribution to journalArticle

Open Access
File
15 Citations (Scopus)
390 Downloads (Pure)

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

Olivé, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hool, L. C., Cladera, J. & 24 others, Lagerstedt-Robinson, K., Xiang, F., Wredenberg, A., Miralles, F., Baiges, J. J., Malfatti, E., Romero, N. B., Streichenberger, N., Vial, C., Claeys, K. G., Straathof, C. S. M., Goris, A., Freyer, C., Lammens, M., Bassez, G., Kere, J., Clemente, P., Sejersen, T., Udd, B., Vidal, N., Ferrer, I., Edström, L., Wedell, A. & Laing, N. G., 1 Dec 2019, In : Nature Communications. 10, 1, 1396.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

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

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta Neuropathologica Communications. 8, 1, p. 18

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

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

Martin, P. B., Kigoshi-Tansho, Y., Sher, R. B., Ravenscroft, G., Stauffer, J. E., Kumar, R., Yonashiro, R., Müller, T., Griffith, C., Allen, W., Pehlivan, D., Haral, T., Zenker, M., Howting, D., Schanze, D., Faqeih, E. A., Almontashiri, N. A. M., Maroofian, R., Houlden, H., Mazaheri, N. & 8 others, Galehdari, H., Douglas, G., Posey, J. E., Ryan, M., Lupski, J. R., Laing, N. G., Joazeiro, C. A. P. & Cox, G. A., 1 Dec 2020, In : Nature Communications. 11, 1, 4625.

Research output: Contribution to journalArticle

Open Access

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

Clayton, J. S., McNamara, E. L., Goullee, H., Conijn, S., Muthsam, K., Musk, G. C., Coote, D., Kijas, J., Testa, A. C., Taylor, R. L., O'Hara, A. J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 20 Aug 2020, In : Acta Neuropathologica Communications. 8, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

Recessive MYH7-related myopathy in two families

Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A. & Jungbluth, H., Jun 2019, In : Neuromuscular Disorders. 29, 6, p. 456-467 12 p.

Research output: Contribution to journalArticle

Open Access
File
1 Citation (Scopus)
52 Downloads (Pure)

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Ravenscroft, G., Di Donato, N., Hahn, G., Davis, M. R., Craven, P. D., Poke, G., Neas, K. R., Neuhann, T. M., Dobyns, W. B. & Laing, N. G., Nov 2016, In : Neuromuscular Disorders. 26, 11, p. 744-748

Research output: Contribution to journalArticle

27 Citations (Scopus)

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G. & Tajsharghi, H., 1 Jun 2018, In : European Journal of Neurology. 25, 6, p. 841-847 7 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)
Open Access

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm ) ameliorates disease in a murine model of McArdle disease

McNamara, E. L., Taylor, R. L., Clayton, J. S., Goullee, H., Dilworth, K. L., Pinós, T., Brull, A., Alexander, I. E., Lisowski, L., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 1 Jan 2020, In : Human Molecular Genetics. 29, 1, p. 20-30 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., Kresoje, N., Ong, R., Duff, R. M., Cabrera-Serrano, M., Nowak, K. J., Pachter, N., Ravenscroft, G., Lamont, P. J., Davis, M. R. & Laing, N. G., 9 Mar 2020, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

Kariminejad, A., Dahl-Halvarsson, M., Ravenscroft, G., Afroozan, F., Keshavarz, E., Zonooz, M. F., Najmabadi, H., Goullee, H., Davis, M., Laing, N. & Tajsharghi, H., Jul 2019, In : European Journal of Human Genetics. 27, p. 314-314 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

Ravenscroft, G., Pannell, S., O'Grady, G., Ong, R., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., Magoffin, A., Nightingale, S., Freckmann, M. L., Kirk, E. P., Sachdev, R., Lemberg, D. A., Delatycki, M. B., Kamm, M. A. & 7 others, Basnayake, C., Lamont, P. J., Amor, D. J., Jones, K., Schilperoort, J., Davis, M. R. & Laing, N. G., 1 Sep 2018, In : Neurogastroenterology and Motility. 30, 9, e13371.

Research output: Contribution to journalArticle

6 Citations (Scopus)