Search Results - "Rossor, A.M."

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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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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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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P54 A dominant negative mutation in FBXO38 is a cause of distal hereditary motor neuropathy (dHMN) by Rossor, A.M, d'Ydewalle, C, Wooley, J, Harms, M, Reilly, M.M, Greensmith, L, Sumner, C, Houlden, H

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P56 Whole-exome sequencing in patients with sensory and motor inherited neuropathies by 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

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P52 A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2 by Rossor, A.M, Davidson, G, Houlden, H.H, Kalmar, B, Greensmith, L, Reilly, M.M

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Are we prepared for clinical trials in Charcot-Marie-Tooth disease? by Rossor, A.M., Shy, M.E., Reilly, M.M.

“…•Advances Charcot-Marie-Tooth (CMT) disease are leading to new therapies.•CMT is a challenging disease for designing clinical trials.•There are a range of…”
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Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many? by Pipis, M., Rossor, A.M., Polke, J., Cortese, A., Reilly, M.M.

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PN08 - Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many? by Pipis, M., Rossor, A.M., Polke, J., Cortese, A., Reilly, M.M.

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Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity by Rossor, A.M., Sandelius, A., Adiutori, R., Malaspina, A., Blennow, K., Zetterberg, H., Reilly, M.M.

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PN09 - Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity by Rossor, A.M., Sandelius, A., Adiutori, R., Malaspina, A., Blennow, K., Zetterberg, H., Reilly, M.M.

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PN02 - 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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Corrigendum to Routine blood monitoring in maintenance Immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? [Journal of the Neurological Sciences 408 (2020) 116527] by 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.

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Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? by 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.

“…Pre-treatment screening for IgA deficiency and close monitoring of full blood count(FBC) and renal function is recommended with intravenous…”
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PN01 - 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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PN05 - 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.

Get full text

S03 - 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.

Get full text

PN04 - 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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