• The University of Western Australia (M519), 35 Stirling Highway,

    6009 Perth

    Australia

  • The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

  • 210 Citations
  • 7 h-Index
20082019
If you made any changes in Pure these will be visible here soon.

Personal profile

Keywords

  • Neuromuscular and neurogenetic disorders

Fingerprint Dive into the research topics where Phillipa Lamont is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Rhabdomyolysis Medicine & Life Sciences
Distal Myopathies Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Cystinosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Limb-Girdle Muscular Dystrophies Medicine & Life Sciences
Intestinal Pseudo-Obstruction Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2008 2019

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
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation

Balance and falls in people with Charcot-Marie-Tooth disease: A cohort survey

Williams, S., Singer, B. & Lamont, P., 1 Jan 2018, In : International Journal of Therapy and Rehabilitation. 25, 1, p. 6-12 7 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Physical Therapists
Activities of Daily Living
Age of Onset
Ankle
14 Citations (Scopus)

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 othersRyan, 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
7 Citations (Scopus)
119 Downloads (Pure)

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 othersMarns, 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
Axons
Tooth
Mutation
Information Dissemination
Genetic Association Studies
5 Citations (Scopus)

STRetch: Detecting and discovering pathogenic short tandem repeat expansions

Dashnow, H., Lek, M., Phipson, B., Halman, A., Sadedin, S., Lonsdale, A., Davis, M., Lamont, P., Clayton, J. S., Laing, N. G., MacArthur, D. G. & Oshlack, A., 21 Aug 2018, In : Genome Biology. 19, 1, 121.

Research output: Contribution to journalArticle

Open Access
Microsatellite Repeats
genome
microsatellite repeats
loci
Genome