Search Results - "Reilly, M.M"

Genetic testing in inherited neuropathies: what and when to test by Reilly, M.M

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In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms by Sarajarvi, V, Kalmar, B, Reilly, M.M, Greensmith, L

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Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey by Skorupinska, M, Laurá, M, Bull, K, Byrne, B, Reilly, M.M

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A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs by Rossor, A.M, Rebelo, A, Horga, A, Tomaselli, P.J, Gonzalez, M, Zuchner, S, Reilly, M.M

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Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I by Wilson, E, Kalmar, B, Kugathasan, M, Abramov, A, Reilly, M.M, Greensmith, L

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Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations by POLKE, J. M, LAURA, M, DEVILE, C, SANDFORD, R, SWEENEY, M. G, DAVIS, M. B, REILLY, M. M, PAREYSON, D, TARONI, F, MILANI, M, BERGAMIN, G, GIBBONS, V. S, HOULDEN, H, CHAMLEY, S. C, BLAKE, J

“…Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing…”
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168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) by Reilly, M.M, Shy, M.E, Muntoni, F, Pareyson, D

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Mitochondrial dysfunction in a treatable childhood neuronopathy by Manole, A, Jaunmuktane, Z, Pandraud, A, Hanna, M.G, Reilly, M.M, Kullmann, D.M, Jepson, J.E.C, Houlden, H

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Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation by 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

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Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg by Spillane, J, Englezou, C, Sarri-Gonzales, S, Rossor, A.M, Lunn, M.P, Manji, J, Reilly, M.M, Carr, A.S

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P45 Referral patterns to a specialised peripheral neuropathy clinic by Menezes, M.P, Reilly, M.M

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Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy by Carr, A.S, Pelayo-Negro, A.L, Jaunmuktane, Z, Scalco, R.S, Hutt, D, Evans, M.R.B, Heally, E, Brandner, S, Holton, J, Blake, J, Whelan, C.J, Wechalekar, A.D, Gillmore, J.D, Hawkins, P.N, Reilly, M.M

“…Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this…”
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Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy by Healy, E.G, Phadke, R, Kidd, M, Reilly, M.M, Lunn, M.P

“…Highlights • Anti CD 20 therapy may result in unusual infections. • We report enterovirus myofasciitis with documented pathology for the first time. •…”
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P51 Neuropathy phenotype in hereditary transthyretin amyloidosis by Carr, A.S, Pelayo, A.L, Gilmore, J, Hawkins, P, Reilly, M.M

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Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy by Silwal, Arpana, Manzur, A.Y, Muntoni, F, Munot, P, Reilly, M.M, Rossor, A, Pitt, M, DeVile, C, Mankad, K, Phadke, R

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Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED by Green, R.L, Simoes, F.A, Reyes-Aldasoro, C.C, Rossor, A.M, Scoto, M, Barri, M, Sedlakova, Z, Greensmith, L, Muntoni, F, Reilly, M.M, Hafezparast, M

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Functional validation of non-coding variants of GJB1 in patients with CMTX1 by 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

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Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation by 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

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Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study by Morrow, J.M, Evans, M.R.B, Grider, T, Sinclair, C.J.D, Thedens, D, Shah, S, Hanna, M.G, Yousry, T.A, Thornton, J.S, Nopoulos, P, Shy, M.E, Reilly, M.M

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Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease by Wallace, A, Pietrusz, A, Dewar, E, Dudziec, M, Jones, K, Hennis, P, Sterr, A, Baio, G, Butcher, K, Machado, P, Laurá, M, Skorupinska, I, Skorupinska, M, Trenell, M.I, Hanna, M.G, Reilly, M.M, Ramdharry, G.M

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