Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
Polke, J M, Laurá, M, Pareyson, D, Taroni, F, Milani, M, Bergamin, G, Gibbons, V S, Houlden, H, Chamley, S C, Blake, J, Devile, C, Sandford, R, Sweeney, M G, Davis, M B, Reilly, M M
Published in Neurology (12.07.2011)
Published in Neurology (12.07.2011)
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Journal Article
Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation
Cortese, A, Laurá, M, Polke, J.M, Rossor, A.M, Tomaselli, P.J, Blake, J, Poh, R, Lunn, M.P, Houlden, H, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Functional validation of non-coding variants of GJB1 in patients with CMTX1
Cortese, A, Manole, A, Ashokkumar, B, Simone, R, Tomaselli, P.J, Rossor, A.M, Laurá, M, Skorupinska, M, Polke, J.M, Poh, R, Houlden, H, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation
Kugathasan, U, Laurá, M, Tomaselli, P.J, Evans, M.R.B, Pittmann, A, Sinclair, C.J.D, Hornemann, T, Suriyanarayanan, S, Phadke, R, Lauria, G, Lombardi, R, Polke, J.M, Bennett, D.L, Houlden, H, Blake, J, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Variable phenotypes are associated with PMP22 missense mutations
Russo, M, Laurá, M, Polke, J.M, Davis, M.B, Blake, J, Brandner, S, Hughes, R.A.C, Houlden, H, Bennett, D.L.H, Lunn, M.P.T, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.02.2011)
Published in Neuromuscular disorders : NMD (01.02.2011)
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P52 MFN2 deletion founder mutation in the UK population
Carr, A.S, Polke, J.M, Pelayo, A.L, Laurá, M, Lecky, B, Vaughan, J, Rankin, J, Sweeny, M.G, Houlden, H, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
G.P.22
Scalco, R.S, Pitceathly, R.D.S, Gardiner, A, Woodward, C, Polke, J.M, Sweeney, M.G, Olpin, S.E, Kirk, R, Murphy, E, Hilton-Jones, D, Jungbluth, H, Houlden, H, Hanna, M.G, Quinlivan, R
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P59 A novel mutation in the nerve-specific 5 UTR of the Cx32 gene causing CMTX1
Murphy, S.M, Polke, J.M, Manji, H, Brandner, S, Houlden, H, Reilly, M.M
Published in Neuromuscular disorders : NMD (2010)
Published in Neuromuscular disorders : NMD (2010)
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P64 Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations
Davidson, G, Murphy, S.M, Polke, J.M, Davis, M.B, Reilly, M, Houlden, H, collaborators of the MRC Centre for Neuromuscular Diseases
Published in Neuromuscular disorders : NMD (2010)
Published in Neuromuscular disorders : NMD (2010)
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P60 Variable severity of early onset CMT2 with compound heterozygous MFN2 mutations
Laurá, M, Polke, J.M, Pareyson, D, Milani, M, Blake, J, Taroni, F, Gibbons, V.S, Devile, C, Sweeney, M.G, Davis, M.B, Reilly, M.M
Published in Neuromuscular disorders : NMD (2010)
Published in Neuromuscular disorders : NMD (2010)
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Journal Article
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series
Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.
Published in Molecular psychiatry (01.12.2020)
Published in Molecular psychiatry (01.12.2020)
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PN05 - Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation
Cortese, A., Laurá, M., Polke, J.M., Rossor, A.M., Tomaselli, P.J., Blake, J., Poh, R., Lunn, M.P., Houlden, H., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
PN04 - Functional validation of non-coding variants of GJB1 in patients with CMTX1
Cortese, A., Manole, A., Ashokkumar, B., Simone, R., Tomaselli, P.J., Rossor, A.M., Laurá, M., Skorupinska, M., Polke, J.M., Poh, R., Houlden, H., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
PN09 - Hereditory Sensory Neuropathy Type 1 (SPTLC1): phenotypic variation in patients with the English founder mutation
Kugathasan, U., Laurá, M., Tomaselli, P.J., Evans, M.R.B., Pittmann, A., Sinclair, C.J.D., Hornemann, T., Suriyanarayanan, S., Phadke, R., Lauria, G., Lombardi, R., Polke, J.M., Bennett, D.L., Houlden, H., Blake, J., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
G.P.22: Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysis
Scalco, R.S., Pitceathly, R.D.S., Gardiner, A., Woodward, C., Polke, J.M., Sweeney, M.G., Olpin, S.E., Kirk, R., Murphy, E., Hilton-Jones, D., Jungbluth, H., Houlden, H., Hanna, M.G., Quinlivan, R.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
PA.3. Microarray analysis identifies salt sensitive candidate genes in the SHRSP
McBride, M.W, McClure, J.D, Polke, J.M, Graham, D, Dominiczak, A.F
Published in Journal of human hypertension (01.10.2007)
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Published in Journal of human hypertension (01.10.2007)
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PA.2. RNA-interference and adenovirus mediated selective modulation of cardiovascular candidate genes
Polke, J.M, Graham, L, Miller, W.H, Nicklin, S.A, McBride, M.W, Baker, A.H, Dominiczak, A.F
Published in Journal of human hypertension (01.10.2007)
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Published in Journal of human hypertension (01.10.2007)
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