A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs
Rossor, A.M, Rebelo, A, Horga, A, Tomaselli, P.J, Gonzalez, M, Zuchner, S, 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
Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg
Spillane, J, Englezou, C, Sarri-Gonzales, S, Rossor, A.M, Lunn, M.P, Manji, J, Reilly, M.M, Carr, A.S
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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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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Journal Article
Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED
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
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
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
P54 A dominant negative mutation in FBXO38 is a cause of distal hereditary motor neuropathy (dHMN)
Rossor, A.M, d'Ydewalle, C, Wooley, J, Harms, M, Reilly, M.M, Greensmith, L, Sumner, C, Houlden, H
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
P56 Whole-exome sequencing in patients with sensory and motor inherited neuropathies
Horga, A, Cottenie, E, Liu, Y-T, Pandraud, A, Rossor, A.M, Pitceathly, R.D.S, Laurá, M, Hanna, 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
P52 A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
Rossor, A.M, Davidson, G, Houlden, H.H, Kalmar, B, Greensmith, L, Reilly, M.M
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many?
Pipis, M., Rossor, A.M., Polke, J., Cortese, A., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
PN08 - Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many?
Pipis, M., Rossor, A.M., Polke, J., Cortese, A., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity
Rossor, A.M., Sandelius, A., Adiutori, R., Malaspina, A., Blennow, K., Zetterberg, H., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
PN09 - Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity
Rossor, A.M., Sandelius, A., Adiutori, R., Malaspina, A., Blennow, K., Zetterberg, H., Reilly, M.M.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
PN02 - A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs
Rossor, A.M., Rebelo, A., Horga, A., Tomaselli, P.J., Gonzalez, M., Zuchner, S., 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
Corrigendum to Routine blood monitoring in maintenance Immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? [Journal of the Neurological Sciences 408 (2020) 116527]
Keh, R., Khalil, A., Nihoyannopoulos, L., Compton, L., Kapoor, M., Gosal, D., Manji, H., Rossor, A.M., Reilly, M.M., Lunn, M.P., Lavin, T.M., Carr, A.S.
Published in Journal of the neurological sciences (15.10.2020)
Published in Journal of the neurological sciences (15.10.2020)
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Journal Article
Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant?
Keh, R., Kahlil, A., Nihoyannopoulos, L., Compton, L., Kapoor, M., Gosal, D., Manji, H., Rossor, A.M., Reilly, M.M., Lunn, M.P., Lavin, T.M., Carr, A.S.
Published in Journal of the neurological sciences (15.01.2020)
Published in Journal of the neurological sciences (15.01.2020)
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Journal Article
PN01 - Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg
Spillane, J., Englezou, C., Sarri-Gonzales, S., Rossor, A.M., Lunn, M.P., Manji, J., Reilly, M.M., Carr, A.S.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
Journal Article
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)
Get full text
Journal Article
S03 - Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED
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.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
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)
Get full text
Journal Article