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Prof Mary Reilly

Research Summary

My research focusses on peripheral nerve disease. Our group has a longstanding interest in inherited neuropathies which is the main area of interest. We particularly work on Charcot-Marie-Tooth disease (CMT), the hereditary sensory and autonomic neuropathies (HSAN) and the distal hereditary motor neuropathies (HMN). Up until recently we have concentrated on identifying causative genes / mutations for these neuropathies and in performing large scale genotype / phenotype studies. More recently we have become interested in the functional consequences of mutated neuropathy genes and currently have a number of projects exporing specific genes for CMT1, CMT2, HSAN1 and HMN. We also in recent years have being involved in developing clinical scales for drug trials in inherited neuropathies and are currently conducting a drug trial in CMT1A. Our other area of interest is the inflammatory neuropathies particularly chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy with conduction block (MMN), particularly the treatment of these conditions. Our research includes imaging nerves with MRI and conducting drug trials in the inflammatory neuropathies.

Research Activities

  • Glial development in the PNS
  • Paediatric Neurology
  • peripheral nerve disease especially inherited neuropathies but also inflammatory neuropathies

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Murphy SM,Khan U,Alifrangis C,Hazell S,Hrouda D,Blake J,Ball J,Gabriel C,Markarian P,Rees J,Karim A,Seckl MJ,Lunn MP,Reilly MM (2012) Optineurin mutations in Japanese amyotrophic lateral sclerosis JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 83(2), 233 - 235. 10.1136/jnnp.2010.234963.
  2. Murphy SM,Khan U,Alifrangis C,Hazell S,Hrouda D,Blake J,Ball J,Gabriel C,Markarian P,Rees J,Karim A,Seckl MJ,Lunn MP,Reilly MM (2012) Anti Ma2-associated myeloradiculopathy: Expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes Journal of Neurology, Neurosurgery and Psychiatry, 83(2), 232 - 233.
  3. Davidson G,Murphy S,Polke J,Laura M,Salih M,Muntoni F,Blake J,Brandner S,Davies N,Horvath R,Price S,Donaghy M,Roberts M,Foulds N,Ramdharry G,Soler D,Lunn M,Manji H,Davis M,Houlden H,Reilly M (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol, 259(8), 1673 - 1685. 10.1007/s00415-011-6397-y.
  4. Sinclair CDJ,Morrow JM,Miranda MA,Davagnanam I,Cowley PC,Mehta H,Hanna MG,Koltzenburg M,Yousry TA,Reilly MM,Thornton JS (2012) Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies Journal of Neurology, Neurosurgery and Psychiatry, 83(1), 29 - 32.
  5. Murphy SM,Davidson GL,Brandner S,Houlden H,Reilly MM (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy Journal of Neurology, Neurosurgery and Psychiatry, 83(1), 119 - 120.
  6. Murphy SM,Davidson GL,Brandner S,Houlden H,Reilly MM (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry, 83(1), 119 - 120. 10.1136/jnnp.2010.228965.
  7. Rossor AM,Kalmar B,Greensmith L,Reilly MM (2012) The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry, 83(1), 6 - 14. 10.1136/jnnp-2011-300952.
  8. Morrow JM,D'Sa S,Page RA,Hilali MA,Lunn MP,Reilly MM (2012) Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. J Neurol, 259(3), 571 - 573. 10.1007/s00415-011-6217-4.
  9. Sinclair CD,Morrow JM,Hanna MG,Reilly MM,Yousry TA,Golay X,Thornton JS (2012) Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR Biomed, 25(2), 262 - 270. 10.1002/nbm.1744.
  10. Sinclair CD,Morrow JM,Miranda MA,Davagnanam I,Cowley PC,Mehta H,Hanna MG,Koltzenburg M,Yousry TA,Reilly MM,Thornton JS (2012) Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatry, 83(1), 29 - 32. 10.1136/jnnp.2011.246116.
  11. Murphy SM,Khan U,Alifrangis C,Hazell S,Hrouda D,Blake J,Ball J,Gabriel C,Markarian P,Rees J,Karim A,Seckl MJ,Lunn MP,Reilly MM (2012) Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes. J Neurol Neurosurg Psychiatry, 83(2), 232 - 233. 10.1136/jnnp.2010.223271.
  12. Trip SA,Saifee T,Honan W,Chandrashekar H,Lunn MP,Yousry T,Koltzenburg M,Reilly MM (2012) Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement. J Neurol, 259(6), 1238 - 1240. 10.1007/s00415-011-6326-0.
  13. Hutton EJ,Carty L,Laurá M,Houlden H,Lunn MP,Brandner S,Mirsky R,Jessen K,Reilly MM (2011) c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst, 16(4), 295 - 303. 10.1111/j.1529-8027.2011.00360.x.
  14. Sadnicka A,Reilly MM,Mummery C,Brandner S,Hirsch N,Lunn MP (2011) Rituximab in the treatment of three coexistent neurological autoimmune diseases: chronic inflammatory demyelinating polyradiculoneuropathy, Morvan syndrome and myasthenia gravis. J Neurol Neurosurg Psychiatry, 82(2), 230 - 232. 10.1136/jnnp.2009.174888.
  15. Morrow JM,D'Sa S,Page RA,Hilali MA,Lunn MP,Reilly MM (2011) Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia Journal of Neurology, 1 - 3.
  16. Morrow JM,Reilly MM (2011) The Babinski sign. Br J Hosp Med (Lond), 72(10), M157 - M159.
  17. Murphy SM,Herrmann DN,McDermott MP,Scherer SS,Shy ME,Reilly MM,Pareyson D (2011) Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst, 16(3), 191 - 198. 10.1111/j.1529-8027.2011.00350.x.
  18. Siskind CE,Neal S,Pareyson D,Finkel R,Burns J,Scherer SS,Herrmann DN,Reilly MM,Shy ME (2011) UPDATE - INHERITED NEUROPATHIES CONSORTIUM JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S128 - S129.
  19. Rossor AM,Kalmar B,Cheetham M,Schiavo G,Reilly MM,Greensmith L (2011) AN IN-VITRO STUDY OF DISTAL HEREDITARY MOTOR NEUROPATHY DUE TO HOMOZYGOUS HSJ1 MUTATIONS JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S119 - S120.
  20. Ramdharry GM,Pollard AJ,Anderson CA,Laura M,Murphy SM,Hutton EJ,Marsden JF,Reilly MM (2011) STRENGTHENING HIPS FLEXORS TO IMPROVE WALKING DISTANCE IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S115 - S116.
  21. Ramdharry GM,Entwistle L,Reilly MM (2011) FALLS IN ADULTS WITH CHARCOT-MARIE-TOOTH DISEASE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S115 - S115.
  22. Pareyson D,Reilly MM,Schenone A,Fabrizi GM,Cavallaro T,Santoro L,Vita G,Quattrone A,Padua L,Gemignani F,Visioli F,Laura M,Calabrese D,Hughes RAC,Radice D,Solari A,CMT-TRIAAL CMT-TRAUK Grp (2011) RANDOMISED CONTROLLED TRIAL WITH ASCORBIC ACID IN CHARCOT-MARIE-TOOTH TYPE 1A: RESULTS OF THE CMT-TRIAAL/CMT-TRAUK JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S104 - S105.
  23. Pareyson D,Reilly MM,Schenone A,Fabrizi GM,Cavallaro T,Santoro L,Vita G,Quattrone A,Padua L,Gemignani F,Visioli F,Laura M,Calabrese D,Hughes RAC,Radice D,Marchesi C,Solari S,CMT-TRIAAL & CMT-TRAUK Grp (2011) HOW TO DETECT DISEASE PROGRESSION AND TREAMENT EFFECT IN CHARCOT-MARIE-TOOTH DISEASE? RESPONSIVENESS OF CLINICAL OUTCOME MEASURES JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S103 - S104.
  24. Murphy SM,Siskind CE,Ovens R,Polke J,Laura M,Houlden H,Murphy RPJ,Shy ME,Reilly MM (2011) X-INACTIVATION PATTERN IN FEMALES WITH CMTX1 JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S94 - S94.
  25. Murphy SM,Herrmann DN,McDermott M,Shy ME,Reilly MM,Pareyson D (2011) RELIABILITY OF THE CMT NEUROPATHY SCORE (SECOND VERSION) IN CHARCOT-MARIE-TOOTH DISEASE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S93 - S94.
  26. Murphy SM,Davidson GL,Laura M,Salih MAM,Muntoni F,Lunn MP,Blake J,Bull K,Brandner S,Polke J,Davis M,Houlden H,Reilly MM (2011) GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN) JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S93 - S93.
  27. Morrow JM,Sinclair CDJ,Fischmann A,Thornton JS,Laura M,Yousry TA,Hanna MG,Reilly MM (2011) QUANTITATIVE MAGNETIC RESONANCE IMAGING OF MUSCLE IN CHARCOT-MARIE-TOOTH DISEASE 1A-A POTENTIAL OUTCOME MEASURE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S90 - S90.
  28. Morrow JM,Dewar EL,Ramdharry GM,Laura M,Yousry TA,Hanna MG,Reilly MM (2011) ISOMETRIC AND ISOKINETIC LOWER LIMB STRENGTH IN CHARCOT-MARIE-TOOTH DISEASE 1A JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S90 - S90.
  29. Laura M,Eichler FS,Hornemann T,Polke J,Davis M,Bull K,Houlden H,Reilly MM (2011) HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S72 - S73.
  30. Kalmar B,Innes A,Rossor AM,Houlden H,Schiavo G,Reilly MM,Greensmith L (2011) ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S62 - S63.
  31. Fawcett K,Murphy SM,Reilly MM,Houlden H (2011) TRPV4 MUTATIONS AND FUNCTIONAL CHARACTERISATION IN A COHORT OF PATIENTS WITH HEREDITARY NEUROPATHY JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S36 - S36.
  32. Burns J,Finkel R,Estilow T,Hiscock A,Laura M,Swingle P,Patzko A,Glanzman A,Acsadi G,Muntoni F,Reilly MM,Pareyson D,Moroni I,Pagliano E,Ramchandren S,Eichinger K,Ryan M,Ouvrier RA,Shy R,Shy ME (2011) FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S16 - S16.
  33. Burns J,Finkel R,Estilow T,Hiscock A,Laura M,Swingle P,Patzko A,Glanzman A,Acsadi G,Muntoni F,Reilly MM,Pareyson D,Moroni I,Pagliano E,Ramchandren S,Eichinger K,Ryan M,Ouvrier RA,Shy R,Shy ME (2011) DEVELOPMENT, RELIABILITY AND VALIDITY OF THE CHARCOT-MARIE-TOOTH DISEASE PEDIATRIC SCALE (CMTPEDS) JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S15 - S16.
  34. Pandraud A,Murphy SM,Laura M,Reilly MM,Houlden H (2011) Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients NEUROMUSCULAR DISORDERS, 21, S18 - S18.
  35. Murphy SM,Siskind C,Ovens R,Polke J,Laura M,Houlden H,Murphy RPJ,Shy ME,Reilly MM (2011) X-inactivation pattern in females with CMTX1 NEUROMUSCULAR DISORDERS, 21, S18 - S18.
  36. Murphy SM,Davidson GL,Laura M,Salih M,Muntoni F,Lunn M,Blake J,Brandner S,Polke J,Davies M,Houlden H,Reilly MM (2011) Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN) NEUROMUSCULAR DISORDERS, 21, S17 - S18.
  37. Liu YT,Murphy SM,Houlden H,Reilly MM (2011) Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease NEUROMUSCULAR DISORDERS, 21, S17 - S17.
  38. Nethisinghe S,Clayton L,Vermeer S,Chapple JP,Reilly M,Bremner F,Giunti P (2011) Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay NEURO-OPHTHALMOLOGY, 35(4), 197 - 201. 10.3109/01658107.2011.595043.
  39. Pareyson D,Schenone A,Reilly MM,Fabrizi GM,Cavallaro T,Santoro L,Vita G,Quattrone A,Padua L,Gemignani F,Visioli F,Laura M,Calabrese D,Hughes RAC,Radice D,Solari A,CMT-TRIAAL & CMT-TRAUK Grp (2011) SENSITIVITY TO CHANGE OF CLINICAL OUTCOME MEASURES IN CHARCOT-MARIE-TOOTH DISEASE JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 16, S29 - S30.
  40. Saporta MA,Katona I,Zhang XB,Roper HP,McClelland L,Macdonald F,Brueton L,Blake J,Suter U,Reilly MM,Shy ME,Li J (2011) Neuropathy in a Human Without the PMP22 Gene ARCH NEUROL-CHICAGO, 68(6), 814 - 821.
  41. Polke JM,Laurá M,Pareyson D,Taroni F,Milani M,Bergamin G,Gibbons VS,Houlden H,Chamley SC,Blake J,Devile C,Sandford R,Sweeney MG,Davis MB,Reilly MM (2011) Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology, 77(2), 168 - 173. 10.1212/WNL.0b013e3182242d4d.
  42. Siskind CE,Murphy SM,Ovens R,Polke J,Reilly MM,Shy ME (2011) Phenotype expression in women with CMT1X. J Peripher Nerv Syst, 16(2), 102 - 107. 10.1111/j.1529-8027.2011.00332.x.
  43. Sinclair CDJ,Morrow JM,Hanna MG,Reilly MM,Yousry TA,Golay X,Thornton JS (2011) Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy NEUROMUSCULAR DISORDERS, 21, S29 - S29.
  44. Sinclair CDJ,Morrow JM,Fischmann A,Hanna MG,Reilly MM,Yousry TA,Golay X,Thornton JS (2011) MRI shows increased tibial nerve size in CMT1A NEUROMUSCULAR DISORDERS, 21, S28 - S28.
  45. Saifee TA,Parees I,Kassavetis R,Reilly MM,Kaski D,Bronstein AM,Rothwell JC,Edwards MJ (2011) Tremor in Charcot-Marie-Tooth disease NEUROMUSCULAR DISORDERS, 21, S19 - S19.
  46. Rossor A,Houlden H,Reilly MM (2011) A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins NEUROMUSCULAR DISORDERS, 21, S18 - S19.
  47. Ramdharry GM,Entwistle L,Reilly MM (2011) Frequency and circumstances of falls for adults with Charcot-Marie-Tooth disease NEUROMUSCULAR DISORDERS, 21, S18 - S18.
  48. Laura M,Murphy SM,Rossor A,Hiscock A,Main M,Shy ME,Muntoni F,Reilly MM (2011) Charcot-Marie-Tooth disease and related disorders: a natural history study NEUROMUSCULAR DISORDERS, 21, S17 - S17.
  49. Fawcett K,Murphy SM,Polke J,Reilly MM,Houlden H (2011) TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy NEUROMUSCULAR DISORDERS, 21, S16 - S16.
  50. Morrow JM,Matthews E,Rayan DLR,Amer I,Fischmann A,Sinclair CDJ,Thornton JS,Reilly MM,Yousry TA,Hanna MG (2011) Magnetic resonance imaging in the non-dystrophic myotonias NEUROMUSCULAR DISORDERS, 21, S5 - S5.

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Keywords

  • Axon degeneration
  • Axonal transport
  • Charcot-Marie-Tooth disease
  • Chronic inflammatory demyelinating polyneuropathy
  • Clinical trials
  • Electromyography
  • Electron Microscopy
  • Electrophysiology
  • Epidemiology
  • Genetic screens
  • Genetics
  • Genomic analyses
  • Guillain-Barré syndrome
  • Histology
  • Immunohistochemistry
  • Inflammation
  • Magnetic resonance imaging (MRI)
  • Myelin
  • Neuroimaging
  • Neuron
  • Neuropathy
  • Neuroscience
  • Proteomics
  • Transgenic mice
  • Vasculitis
  • peripheral nerve disease, inherited neuropathies,inflammatory neuropathies