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
Published in Acta neuropathologica communications (01.03.2019)
Published in Acta neuropathologica communications (01.03.2019)
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Journal Article
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy
Lamont, P J, Udd, B, Mastaglia, F L, de Visser, M, Hedera, P, Voit, T, Bridges, L R, Fabian, V, Rozemuller, A, Laing, N G
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2006)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2006)
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Journal Article
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2
Cabrera-Serrano, M., Fabian, V.A., Boutilier, J., Wise, C., Faiz, F., Lamont, P.J., Laing, N.G.
Published in Clinical genetics (01.12.2015)
Published in Clinical genetics (01.12.2015)
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Journal Article
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., Basnayake, C., Lamont, P. J., Amor, D. J., Jones, K., Schilperoort, J., Davis, M. R., Laing, N. G.
Published in Neurogastroenterology and motility (01.09.2018)
Published in Neurogastroenterology and motility (01.09.2018)
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Journal Article
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
Cullup, T, Lamont, P.J, Cirak, S, Damian, M.S, Wallefeld, W, Gooding, R, Tan, S.V, Sheehan, J, Muntoni, F, Abbs, S, Sewry, C.A, Dubowitz, V, Laing, N.G, Jungbluth, H
Published in Neuromuscular disorders : NMD (01.12.2012)
Published in Neuromuscular disorders : NMD (01.12.2012)
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Journal Article
An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy
Clark, Kim M., Taylor, Robert W., Johnson, Margaret A., Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Andrews, Richard M., Nelson, Isobel P., Wood, Nicholas W., Lamont, Phillipa J., Hanna, Michael G., Lightowlers, Robert N., Turnbull, Douglass M.
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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Journal Article
Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive
Lamont, P J, Thorburn, D R, Fabian, V, Vajsar, J, Hawkins, C, Saada Reisch, A, Durling, H, Laing, N G, Nevo, Y
Published in Neuropediatrics (01.10.2004)
Published in Neuropediatrics (01.10.2004)
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Journal Article
Clinical and laboratory findings in referrals for mitochondrial DNA analysis
Lamont, P J, Surtees, R, Woodward, C E, Leonard, J V, Wood, N W, Harding, A E
Published in Archives of disease in childhood (01.07.1998)
Published in Archives of disease in childhood (01.07.1998)
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Journal Article
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome
Chalmers, R M, Lamont, P J, Nelson, I, Ellison, D W, Thomas, N H, Harding, A E, Hammans, S R
Published in Neurology (01.08.1997)
Published in Neurology (01.08.1997)
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Journal Article
Fifty year follow-up of a patient with central core disease shows slow but definite progression
Lamont, P.J, Dubowitz, V, Landon, D.N, Davis, M, Morgan-Hughes, J.A
Published in Neuromuscular disorders : NMD (01.08.1998)
Published in Neuromuscular disorders : NMD (01.08.1998)
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Journal Article
A prospective phase II trial of ONYX-015 adenovirus and chemotherapy in recurrent squamous cell carcinoma of the head and neck (the Baylor experience)
Lamont, J P, Nemunaitis, J, Kuhn, J A, Landers, S A, McCarty, T M
Published in Annals of surgical oncology (01.09.2000)
Published in Annals of surgical oncology (01.09.2000)
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Journal Article
Alzheimer’s disease with spastic paraparesis and ‘cotton wool’ plaques: two pedigrees with PS‐1 exon 9 deletions
Brooks, William S., Kwok, John B. J., Kril, Jillian J., Broe, G. Anthony, Blumbergs, Peter C., Tannenberg, Anthony E., Lamont, Phillipa J., Hedges, Philippa, Schofield, Peter R.
Published in Brain (London, England : 1878) (01.04.2003)
Published in Brain (London, England : 1878) (01.04.2003)
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Journal Article
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Pellerin, David, Danzi, Matt C., Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K., Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A., Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J., Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H., Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M., Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G., Lamont, Phillipa J., Saporta, Mario A., Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard
Published in The New England journal of medicine (12.01.2023)
Published in The New England journal of medicine (12.01.2023)
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Journal Article
Should locally excised T1 rectal cancer receive adjuvant chemoradiation?
Lamont, Jeffrey P, McCarty, Todd M, Digan, Rick D, Jacobson, Robert, Tulanon, Paitoon, Lichliter, Warren E
Published in The American journal of surgery (01.12.2000)
Published in The American journal of surgery (01.12.2000)
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