Professor Mary M Reilly

Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J.,Houlden, H. (2013). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.. Brain. doi:10.1093/brain/awt315

Tucci, A., Liu, Y. T., Preza, E., Pitceathly, R. D., Chalasani, A., Plagnol, V., Houlden, H. (2013). Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp-2013-306387

Liu, Y. T., Hersheson, J., Plagnol, V., Fawcett, K., Duberley, K. E., Preza, E., Houlden, H. (2013). Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp-2013-306483

Mead, S., Gandhi, S., Beck, J., Caine, D., Gallujipali, D., Carswell, C., Collinge, J. (2013). A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy. New England Journal of Medicine.

Saifee, T. A., Schwingenschuh, P., Katschnig, P., Kassavetis, P., Pareés, I., Bhatia, K, Manji, H. (2013). Tremor in inflammatory neuropathies. Journal of Neurology, Neurosurgery and Psychiatry, 84(11), 1282-1287. doi:10.1136/jnnp-2012-303013
Rossor, A. M., Houlden, H., Reilly, M. M., & Polke, J. M. (2013). Clinical implications of genetic advances in charcot-marie-tooth disease. Nature Reviews Neurology, 9(10), 562-571. doi:10.1038/nrneurol.2013.179

Gonzalez, M., Speziani, F., Züchner, S., McLaughlin, H., Antonellis, A., Houlden, H.,Yang, X. -L. (2013). Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery and Psychiatry, 84(11), 1247-1249. doi:10.1136/jnnp-2013-305049

Keshavan, A., Gandhi, S., Lunn, M., & Reilly, M. (2013). Electrolyte imbalance triggering relapse of inflammatory neuropathy.. J Neurol Neurosurg Psychiatry, 84(11), e2. doi:10.1136/jnnp-2013-306573.206

McColgan, P., Viegas, S., Gandhi, S., Sheikh, F., Pinney, J., Fontana, M., Reilly, M. (2013). Weight loss, encephalopathy, urinary difficulties and numb feet in a nigerian man.. J Neurol Neurosurg Psychiatry, 84(11), e2. doi:10.1136/jnnp-2013-306573.139

Jaffer, F., Reilly, M. M., Quinlivan, R., Muntoni, F., Turner, C., Parton, M., Hanna, M. G. (2013). Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients 2009-2011: final results and recommendations.. J Neurol Neurosurg Psychiatry, 84(11), e2. doi:10.1136/jnnp-2013-306573.7

Scoto, M., Rossor, A., Harms, M. B., Calissano, M., Cirak, S., Foley, A. R., Muntoni, F. (2013). Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series. In NEUROMUSCULAR DISORDERS Vol. 23 (pp. 772). doi:10.1016/j.nmd.2013.06.478

Oates, E. C., Rosser, A. M., Hafezparast, M., Lek, M., Scoto, M., Greensmith, L., North, K. N. (2013). Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP). In NEUROMUSCULAR DISORDERS Vol. 23 (pp. 798). doi:10.1016/j.nmd.2013.06.560

Scoto, M., Cirak, S., Whyte, T., Foley, A. R., Pitt, M., Polke, J., Consortium, U. U. (2013). An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing. In NEUROMUSCULAR DISORDERS Vol. 23 (pp. 758). doi:10.1016/j.nmd.2013.06.435

Pitceathly, R. D., Taanman, J. W., Rahman, S., Meunier, B., Sadowski, M., Cirak, S.,Hanna, M. G. (2013). COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA Neurol.. doi:10.1001/jamaneurol.2013.3242

Fischmann, A., Morrow, J. M., Sinclair, C. D., Reilly, M. M., Hanna, M. G., Yousry, T., Thornton, J. S. (2013). Improved anatomical reproducibility in quantitative lower-limb muscle MRI.. J Magn Reson Imaging. doi:10.1002/jmri.24220

Rossor, A. M., Polke, J. M., Houlden, H., & Reilly, M. M. (2013). Clinical implications of genetic advances in Charcot-Marie-Tooth disease.. Nat Rev Neurol. doi:10.1038/nrneurol.2013.179

Murphy, S. M., Laurá, M., & Reilly, M. M. (2013). DNA testing in hereditary neuropathies.. Handb Clin Neurol, 115, 213-232. doi:10.1016/B978-0-444-52902-2.00012-6

Morrow, J. M., Matthews, E., Raja Rayan, D. L., Fischmann, A., Sinclair, C. D. J., Reilly, M. M., Yousry, T. A. (2013). Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscular Disorders, 23(8), 637-646. doi:10.1016/j.nmd.2013.05.001

Reilly, M. M. (2013). Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: Important associations. Journal of Neurology, Neurosurgery and Psychiatry. doi:10.1136/jnnp-2013-305491

Dastani, Z., Hivert, M. F., Timpson, N., Perry, J. R., Yuan, X., Scott, R. A.,Kathiresan, S. (2012). Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.. PLoS Genet, 8(3), e1002607. doi:10.1371/journal.pgen.1002607

Ramchandren, S., Finkel, R. S., Reilly, M. M., Burns, J., Shy, M. E., & Consortium, I. N. (2013). VALIDATION OF AN ACTIVITY SCALE IN PEDIATRIC CMT. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 92-93).

O'Brien, M., Kinsella, K., Reilly, M., Sweeney, B., Walsh, C., & Hutchinson, M. (2012). WILSON'S DISEASE IN IRELAND: INCREASING PREVALENCE OVER 40 YEARS. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2012-304200a.49

Ramchandren, S., Finkel, R. S., Reilly, M. M., Burns, J., Shy, M. E., & Consortium, I. N. (2013). VALIDATION OF THE PEDIATRIC CMT QUALITY OF LIFE (PCMT-QOL) OUTCOME MEASURE: PRELIMINARY RESULTS FROM THE INHERITED NEUROPATHY CONSORTIUM. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 93).

Sadjadi, R., Shy, M. E., Reilly, M. M., Pareyson, D., & Burns, T. (2013). PSYCHOMETRIC EVALUATION OF CHARCOT-MARIE-TOOTH DISEASE (CMT) NEUROPATHY SCORE (CMTNS) VERSION 2.0 USING RASCH ANALYSIS. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 99-100).

Arthur-Farraj, P., Murphy, S., Laura, M., Lunn, M. P., Manji, H., Blake, J., Reilly, M. (2012). HAND WEAKNESS IN CHARCOT-MARIE-TOOTH DISEASE 1X. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2012-304200a.116

Jaffer, F., Reilly, M. M., Quinlivan R., Muntoni, F., Orrell, R., Wraige, E., Hanna, M. G. (n.d.). Avoiding unplanned admissions in patients with  neuromuscular diseases: a regional collaborative audit of hospital admissions 2009-2011. In Association of British Neurologists. Brighton.

Rossor, A. M., Scoto, M., Harms, M., Baloh, R., Houlden, H., Sewry, C., Reilly, M. M. (2013). THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1). In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 97).

Rossor, A. M., Oates, E. C., Hafezparast, M., Cottenie, E., Houlden, H., Scoto, M., Reilly, M. M. (2013). A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA). In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 96-97).

Dudziec, M., Morrow, J. M., Tropman, D., Dewar, L., Wallace, A., Laura, A. M., Ramdharry, G. M. (2013). EXPLORING THE CAUSES OF FALLS AND BALANCE IMPAIRMENTS IN PEOPLE WITH NEUROMUSCULAR DISEASES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 34).

Burns, J., Menezes, M. P., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Consortium, I. N. (2013). TWO YEAR NATURAL HISTORY OF DISEASE PROGRESSION IN CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 15-16).

Sanmaneechai, O., Laubenthal, K., Shy, R., Finkel, R. S., Burns, J., Estilow, T.,  INC-RDCRN. (2013). THE CHARCOT-MARIE-TOOTH (CMT) DISEASE INFANT-TODDLER SCALE: DEVELOPING SCORING SYSTEM AND PILOT STUDY TESTING THE ABILITY OF THE SCALE TO ASSESS DISEASE SEVERITY IN INFANTS, TODDLERS AND SEVERELY AFFECTED CHILDREN WITH CMT. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 102).

Park, S. B., Davare, M., Falla, M., Reilly, M. M., Laura, M., Kennedy, W. R.,Koltzenburg, M. (2013). ASSESSMENT OF PRECISION GRIP AND HAND FUNCTION IN CMT1A: CONTRIBUTION OF SENSORY AND MOTOR DEFICITS. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 85-86).

Morrow, J. M., Sinclair, C. D. J., Fischmann, A., Hanna, M. G., Thornton, J. S., Yousry, T. A.,Reilly, M. M. (2013). MEASURING THE UNMEASURABLE: MRI QUANTIFICATION OF DISEASE PROGRESSION IN CMT1A OVER 12 MONTHS. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 75).

Laura, M., Murphy, S. M., Hornemann, T., Skorupinska, M., Bull, K., Phadke, R.,  Reilly, M. M. (2013). HEREDITARY SENSORY NEUROPATHY TYPE 1: A NATURAL HISTORY STUDY. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 62).

Sanmaneechai, O., Feely, S. M. E., Finkel, R. S., Burns, J., Muntoni, F., Scherer, S. S.,INC-RDCRN. (2013). NATURAL HISTORY BASELINE PHENOTYPE AND GENOTYPE OF HEREDITARY MOTOR SENSORY PERIPHERAL NEUROPATHIES CAUSED BY MUTATION IN THE MYELIN PROTEIN ZERO. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 101-102).

Wallace, A., Dewar, E., Skorupinska, M., Laura, M., Morrow, J. M., Sterr, A., Ramdharry, G. M. (2013). EVALUATING THE BENEFITS OF COMMUNITY BASED AEROBIC TRAINING ON THE PHYSICAL HEALTH AND WELL-BEING OF PEOPLE WITH NEUROMUSCULAR DISEASES: A PILOT STUDY. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 123).

Kalmar, B., Kolaszynska, A. K., Rossor, A. M., Houlden, H., Schiavo, G., Reilly, M. M. Greensmith, L. (2013). AXONAL TRANSPORT DEFICITS AND INCREASED VULNERABILITY TO OXIDATIVE STRESS IN MUTANT HSPB1 (HSP27)-INDUCED DISTAL HEREDITARY MOTOR NEUROPATHIES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 54).

Burns, J., Menezes, M. P., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Consortium, I. N. (2013). DETERMINANTS OF BALANCE DEFICIT IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 15).

Rossor, A. M., Laura, M., Bull, K., Morrow, J. M., Houlden, H., & Reilly, M. M. (2013). A CLINICAL AND GENETIC STUDY OF THE DISTAL HEREDITARY MOTOR NEUROPATHIES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 18 (pp. 96).

Burns, J., Menezes, M., Finkel, R. S., Estilow, T., Moroni, I., Pagliano, E.,  Shy, M. E. (2013). Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.. J Peripher Nerv Syst, 18(2), 177-180. doi:10.1111/jns5.12024

Dujmovic, I., Lunn, M. P., Reilly, M. M., & Petzold, A. (2013). Serial Cerebrospinal Fluid Neurofilament Heavy Chain Levels In Severe Guillain-Barré Syndrome. Muscle and Nerve, 48(1), 132-134.

Marquez-Infante, C., Murphy, S. M., Mathew, L., Alsanousi, A., Lunn, M. P., Brandner, S., Reilly, M. M. (2013). Asymmetric sensory ganglionopathy: A case series. Muscle and Nerve, 48(1), 145-150.

Gonzalez, M., McLaughlin, H., Houlden, H., Guo, M., Yo-Tsen, L., Hadjivassilious, M., Inherited Neuropathy Consortium (INC). (2013). Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp-2013-305049

Oates, E. C., Rossor, A. M., Hafezparast, M., Gonzalez, M., Speziani, F., Macarthur, D. G., Reilly, M. M. (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia.. Am J Hum Genet, 92(6), 965-973. doi:10.1016/j.ajhg.2013.04.018

Visioli, F., Reilly, M. M., Rimoldi, M., Solari, A., & Pareyson, D. (2013). Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations. PharmaNutrition, 1(1), 10-12.

Dujmovic, I., Lunn, M. P., Reilly, M. M., & Petzold, A. (2012). Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome.. Muscle Nerve. doi:10.1002/mus.23752

Marquez-Infante, C., Murphy, S. M., Mathew, L., Alsanousi, A., Lunn, M. P., Brandner, S.,Reilly, M. M. (2013). Asymmetric sensory ganglionopathy: A case series. Muscle and Nerve.

Murphy, S. M., Ernst, D., Wei, Y., Laurà, M., Liu, Y. T., Polke, J., Reilly, M. M. (2013). Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.. Neurology, 80(23), 2106-2111. doi:10.1212/WNL.0b013e318295d789

Cottenie, E., Menezes, M. P., Rossor, A. M., Morrow, J. M., Blake, J. C., Houlden, H., . . . Brandner, S. (2013). Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders, 23(5), 399-403. doi:10.1016/j.nmd.2013.01.010

Schwingenschuh, P., Saifee, T. A., Katschnig-Winter, P., Reilly, M. M., Lunn, M. P., Manji, H., Edwards, M. J. (2013). Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.. Neurology, 80(20), 1867-1873. doi:10.1212/WNL.0b013e318292a2b8

Koutsis, G., Pandraud, A., Reilly, M. M., Wood, N. W., Houlden, H., Karadima, G., Floroskufi, P. (2013). Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. Clinical Genetics, 83(4), 388-391. doi:10.1111/j.1399-0004.2012.01910.x

Cottenie, E., Menezes, M. P., Rossor, A. M., Morrow, J. M., Yousry, T. A., Dick, D. J., Reilly, M. M. (2013). Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.. Neuromuscul Disord, 23(5), 399-403. doi:10.1016/j.nmd.2013.01.010

Murphy, T. M., Mullins, N., Ryan, M., Foster, T., Kelly, C., McClelland, R., Malone, K. M. (2013). Genetic variation in DNMT3B and increased global DNA methylation is associated with suicide attempts in psychiatric patients. GENES BRAIN AND BEHAVIOR, 12(1), 125-132. doi:10.1111/j.1601-183X.2012.00865.x

Liu, Y. -T., Pittman, A., Hughes, D., Polke, J. M., Sweeney, M. G., Houlden, H.,  Reilly, M. M. (2012). Application of targeted resequencing panels in genetic diagnosis of Charcot-Marie-Tooth disease. In JOURNAL OF MEDICAL GENETICS Vol. 49 (pp. S119).

Pollard, A. J., Reilly, M. M., Ramdharry, G. M., & Marsden, J. F. (2012). Comparing Gait Performance of People with Charcot-Marie-Tooth Disease Who Do and Do Not Wear Ankle Foot Orthoses. Physiotherapy Research International, 17(4), 191-199. doi:10.1002/pri.531

Barwick, K. E. S., Nair, A., Chioza, B., Dick, K. J., Crosby, A. H., Wright, J.,  Reilly, M. M. (2012). Defective presynaptic choline transport underlies hereditary motor neuropathy. American Journal of Human Genetics, 91(6), 1103-1107. doi:10.1016/j.ajhg.2012.09.019

Stevens, J. C., Nethisinghe, S., Giunti, P., Reilly, M. M., Murphy, S. M., Davagnanam, I.,Bremner, F. (2013). The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits. Journal of Neurology, Neurosurgery and Psychiatry, 84(1), 114-116. doi:10.1136/jnnp-2012-303634

Ramdharry, G. M., Thornhill, A., Mein, G., Reilly, M. M., & Marsden, J. F. (2012). Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Neuromuscular Disorders, 22(SUPPL. 3). doi:10.1016/j.nmd.2012.10.016

Fawcett, K. A., Murphy, S. M., Polke, J. M., Manji, H., Quinlivan, R. M., Reilly, M. M.,Zdebik, A. A. (2012). Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. Journal of Neurology, Neurosurgery and Psychiatry, 83(12), 1204-1209. doi:10.1136/jnnp-2012-303055

Stevens, J. C., Murphy, S. M., Davagnanam, I., Phadke, R., Anderson, G., Nethisinghe, S.,Reilly, M. M. (2013). The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.. J Neurol Neurosurg Psychiatry, 84(1), 114-116. doi:10.1136/jnnp-2012-303634

Sitarz, K. S., Yu-Wai-Man, P., Pyle, A., Stewart, J. D., Rautenstrauss, B., Seeman, P., Chinnery, P. F. (2012). MFN2 mutations cause compensatory mitochondrial DNA proliferation. BRAIN, 135. doi:10.1093/brain/aws049

Pitceathly, R. D. S., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Hanna, M. G. (2012). Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY, 79(11), 1145-1154.
 
Pandraud, A., Clayton, P., Foley, A. R., Muntoni, F., Johnson, J. O., Singleton, A. B., Houlden, H. (2012). INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE, 35, S18.

Koutsis, G., Pandraud, A., Karadima, G., Panas, M., Reilly, M., Floroskufi, P., Houlden, H. (2012). Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. Clinical Genetics, 9999(9999).

Beetz, C., Varga, R. -E., Pieber, T. R., Schabhüttl, M., Auer-Grumbach, M., Hertel, N.,Reilly, M. M. (2012). Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type v. American Journal of Human Genetics, 91(1), 139-145. doi:10.1016/j.ajhg.2012.05.007

Michell, A. W., Gaitatzis, A., Burge, J., Reilly, M. M., Kapoor, R., & Koltzenburg, M. (2012). Isolated motor conduction block associated with infliximab.. J Neurol, 259(8), 1758-1760. doi:10.1007/s00415-012-6452-3

Burns, J., Ouvrier, R., Estilow, T., Finkel, R. S., Shy, R., Laurá, M.,Shy, M. E. (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clinical Biomechanics, 27(7), 744-747. doi:10.1016/j.clinbiomech.2012.02.006

Ramdharry, G. M., Reilly, M. M., Day, B. L., & Marsden, J. F. (2012). Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth Disease. Muscle and Nerve, 46(4), 512-519. doi:10.1002/mus.23348

Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R.,Singleton, A. B. (2012). Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.. Brain, 135(Pt 9), 2875-2882. doi:10.1093/brain/aws161

Fawcett, K. A., Murphy, S. M., Polke, J. M., Wray, S., Burchell, V. S., Manji, H.,Houlden, H. (2012). Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.. J Neurol Neurosurg Psychiatry, 83(12), 1204-1209. doi:10.1136/jnnp-2012-303055

Saifee, T. A., Schwingenschuh, P., Reilly, M. M., Lunn, M. P., Katschnig, P., Kassavetis, P., Edwards, M. J. (2013). Tremor in inflammatory neuropathies.. J Neurol Neurosurg Psychiatry, 84(11), 1282-1287. doi:10.1136/jnnp-2012-303013

Rossor, A. M., Davidson, G. L., Blake, J., Polke, J. M., Murphy, S. M., Houlden, H.,Reilly, M. M. (2012). A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.. J Peripher Nerv Syst, 17(2), 201-205. doi:10.1111/j.1529-8027.2012.00400.x

Voermans, N. C., Kleefstra, T., Gabreëls-Festen, A. A., Faas, B. H., Kamsteeg, E. J., Houlden, H., Reilly, M. M. (2012). Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.. J Peripher Nerv Syst, 17(2), 223-225. doi:10.1111/j.1529-8027.2012.00402.x

Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Reilly, M. M. (2012). BAG3 mutations: another cause of giant axonal neuropathy.. J Peripher Nerv Syst, 17(2), 210-216. doi:10.1111/j.1529-8027.2012.00409.x

Vostanis, P., O'Reilly, M., Taylor, H., Edwards, R., Day, C., Street, C., Wolpert, M. (2012). What can education teach child mental health services? Practitioners' perceptions of training and joint working. Emotional and Behavioural Difficulties, 17(2), 109-124. doi:10.1080/13632752.2012.672869

Murphy, S. M., Laura, M., Pandraud, A., Liu, Y. -T., Davidson, G. L., Rossor, A. M., Polke, J. M. (2012). Charcot-Marie-Tooth disease: Frequency of genetic subtypes and guidelines for genetic testing. Journal of Neurology, Neurosurgery and Psychiatry, 83(7), 706-710. doi:10.1136/jnnp-2012-302451

Rossor, A. M., Murphy, S., & Reilly, M. M. (2012). Knee bobbing in Charcot-Marie-Tooth disease.. Pract Neurol, 12(3), 182-183. doi:10.1136/practneurol-2011-000167

Zuchner, S., Gonzalez, M., Schuele, R., Siskind, C., Powell, E., Montenegro, G., Zuchner, S. (2012). Gene Identification in Axonopathies by Applying Massive Whole Exome Sequencing. In NEUROLOGY Vol. 78.

Shy, M., Ouvrier, R., Estilow, T., Laura, M., Pallant, J., Lek, M., Burns, J. (2012). Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability. In NEUROLOGY Vol. 78.

Murphy, T. M., Mullins, N., Foster, T., Kelly, C., McClelland, R., O'Grady, J.,Malone, K. (2012). A Functional Dnmt3b Polymorphism is Associated with Suicide Attempt in Psychiatric Patients. In BIOLOGICAL PSYCHIATRY Vol. 71 (pp. 157S-158S).

Siskind, C., Feely, S., Burns, J., Zuchner, S., Pareyson, D., Herrmann, D., Shy, M. (2012). Update - Inherited Neuropathies Consortium. In NEUROLOGY Vol. 78.

Murphy, S. M., Laura, M., Fawcett, K., Pandraud, A., Liu, Y. T., Davidson, G. L., Reilly, M. M. (2012). Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.. J Neurol Neurosurg Psychiatry, 83(7), 706-710. doi:10.1136/jnnp-2012-302451

Pareyson, D., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Grp, C. M. T. -T. R. I. A. A. L. C. M. T. -T. R. A. U. K. (2012). IS OVERWORK WEAKNESS RELEVANT IN CHARCOT-MARIE-TOOTH DISEASE?. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 17 (pp. S43).

Sinclair, C. D., Morrow, J. M., Fischmann, A., Hanna, M. G., Reilly, M. M., Yousry, T. A.,Thornton, J. S. (2012). Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S33).

Murphy, S. M., Laura, M., Ernst, D., Liu, Y. -T., Blake, J., Donaghy, M.,Reilly, M. M. (2012). Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S19).

Sitarz, K. S., Yu-Wai-Man, P., Pyle, A., Stewart, J. D., Rautenstrauss, B., Seeman, P., Chinnery, P. F. (2012). MFN2 mutations cause compensatory mitochondrial DNA proliferation. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S25-S26).

Pandraud, A., Johnson, J. O., Singleton, A. B., Clayton, P., Land, J., Hargreaves, I.Houlden, H. (2012). Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S19-S20).

Cottenie, E., Laura, M., Hanna, M., Dick, D., Blake, J., Houlden, H., Reilly, M. M. (2012). Genetic analysis of FIG4 in patients with CMT. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S18).

Ramdharry, G. M., Pollard, A. J., Anderson, C. A., Laura, M., Murphy, S. M., Hutton, E. J., Reilly, M. M. (2012). Strengthening hip flexors to improve walking distance in people with Charcot-Marie-Tooth disease. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S21).

Morrow, J. M., Sinclair, C. D. J., Fischmann, A., Thornton, J. S., Reilly, M. M., Hanna, M. G., Yousry, T. A. (2012). MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive biomarker. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S33).

Rossor, A. M., Davidson, G., Houlden, H. H., Kalmar, B., Greensmith, L., & Reilly, M. M. (2012). A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S21).

Menezes, M. P., & Reilly, M. M. (2012). Referral patterns to a specialised peripheral neuropathy clinic. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S19).

Liu, Y. -T., Laura, M., Wood, N., Reilly, M. M., & Houlden, H. (2012). Mutations of the kinesin family member 5A (KIF5A) gene in patients with pure or complex Charcot-Marie-Tooth type 2 (CMT2). In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S18).

Menezes, M. P., Laura, M., & Reilly, M. M. (2012). Variation in the disability in males of similar age with CMT1X. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S18-S19).

Laura, M., Murphy, S. M., Hornemann, T., Bode, H., Polke, J., Blake, J., Reilly, M. M. (2012). Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S18).

Pitceathly, R. D. S., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C.,Hanna, M. G. (2012). Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S20).

Foley, A. R., Broomfield, A. A., Pandraud, A., Johnson, J. O., Singleton, A. B., Hargreaves, I. P., . . . Muntoni, F. (2012). High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S4).

Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laurá, M., Pallant, J. F.,  Finkel, R. S. (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.. Ann Neurol, 71(5), 642-652. doi:10.1002/ana.23572

Phadke, R., Brady, S., & Reilly, M. M. (2012). Colchicine myopathy: Pathological analysis of a case with novel findings. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S30).

Healy, E. G., Phadke, R., Kidd, M., Reilly, M. M., & Lunn, M. (2012). Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S20).

Murphy, S. M., Ovens, R., Polke, J., Siskind, C. E., Laurà, M., Bull, K., Reilly, M. M. (2012). X inactivation in females with X-linked Charcot-Marie-Tooth disease.. Neuromuscul Disord, 22(7), 617-621. doi:10.1016/j.nmd.2012.02.009

Arthur-Farraj, P. J., Murphy, S. M., Laura, M., Lunn, M. P., Manji, H., Blake, J.,Reilly, M. M. (2012). Hand weakness in Charcot-Marie-Tooth disease 1X.. Neuromuscul Disord, 22(7), 622-626. doi:10.1016/j.nmd.2012.02.008

Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Baloh, R. H. (2012). Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.. Neurology, 78(22), 1714-1720. doi:10.1212/WNL.0b013e3182556c05

Morrow, J., Sinclair, C. D. J., Fischmann, A., Thornton, J. S., Yousry, T. A., Reilly, M. M., Hanna, M. G. (2012). MRI QUANTIFICATION OF LOWER LIMB MUSCLE FATTY ATROPHY: A POTENTIAL OUTCOME MEASURE IN CHRONIC NEUROMUSCULAR DISEASES. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2011-301993.32

Stevens, J., Murphy, S. M., Davagnanam, I., Phadke, R., Bremner, F., Anderson, G.,Reilly, M. M. (2012). ARSACS: A NOVEL PHENOTYPE CAUSING PERIPHERAL NEUROPATHY, ATAXIA AND SPASTICITY WITH SUPRANUCLEAR GAZE PALSY, MYOCLONUS AND EPILEPSY. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2011-301993.163

Giunti, P., Nethisinghe, S., Clayton, L. M., Vermeer, S., Chapple, J. P., Reilly, M. M., Bremner, F. (2012). DETECTING RETINAL CHANGES IN AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) USING OPTICAL COHERENCE TOMOGRAPHY (OCT). In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2011-301993.44

Rossor, A., Kalmar, B., Gray, A., Mustill, W., Schiavo, G., Cheetham, M. E., Novoselov, S. (2012). AN IN-VITRO STUDY OF DISTAL HEREDITARY MOTOR NEUROPATHY DUE TO HOMOZYGOUS HSJ1 MUTATIONS. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2011-301993.209

Matilde, L., Eichler, F., Hornemann, T., Murphy, S. M., Polke, J., Bull, K., Reilly, M. M. (2012). HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Vol. 83. doi:10.1136/jnnp-2011-301993.16

Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laurá, M., Eichinger, K., Finkel, R. S. (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.. Clin Biomech (Bristol, Avon), 27(7), 744-747. doi:10.1016/j.clinbiomech.2012.02.006

Davidson, G. L., Murphy, S. M., Polke, J. M., Laura, M., Salih, M. A. M., Muntoni, F., Reilly, M. M. (2012). Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Journal of Neurology, 1-13.

Murphy, S. M., Khan, U., Alifrangis, C., Hazell, S., Hrouda, D., Blake, J., Reilly, M. M. (2012). Optineurin mutations in Japanese amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 83(2), 233-235. doi:10.1136/jnnp.2010.234963

Murphy, S. M., Karim, A., Lunn, M. P., Khan, U., Rees, J., Alifrangis, C., Reilly, M. M. (2012). Anti Ma2-associated myeloradiculopathy: Expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes. Journal of Neurology, Neurosurgery and Psychiatry, 83(2), 232-233. doi:10.1136/jnnp.2010.223271

Davidson, G., Murphy, S., Polke, J., Laura, M., Salih, M., Muntoni, F., 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. doi:10.1007/s00415-011-6397-y

Sinclair, C. D. J., Morrow, J. M., Hanna, M. G., Koltzenburg, M., Yousry, T. A., Reilly, M. M., Mehta, H. (2012). Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. Journal of Neurology, Neurosurgery and Psychiatry, 83(1), 29-32. doi:10.1136/jnnp.2011.246116

Murphy, S. M., Davidson, G. L., Houlden, H., Reilly, M. M., & Brandner, S. (2012). Mutation in FAM134B causing severe hereditary sensory neuropathy. Journal of Neurology, Neurosurgery and Psychiatry, 83(1), 119-120. doi:10.1136/jnnp.2010.228965

Hutton, E. J., Carty, L., Laurá, M., Houlden, H., Lunn, M. P., Brandner, S., Reilly, M. M. (2011). c-Jun expression in human neuropathies: a pilot study.. J Peripher Nerv Syst, 16(4), 295-303. doi:10.1111/j.1529-8027.2011.00360.x

Fageiry, S., Manji, H., Reilly, M. P., & Lunn, M. P. (2008). Differential weakness of median and ulnar innervated flexor digitorum profundus is a useful indicator of inflammatory demyelinating neuropathies. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 13(2), 168.

Trip, S. A., Saifee, T., Honan, W., Chandrashekar, H., Lunn, M. P., Yousry, T., Reilly, M. M. (2011). Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement. Journal of Neurology, 1-3.

Morrow, J. M., D'Sa, S., Page, R. A., Hilali, M. A., Lunn, M. P., & Reilly, M. M. (2011). Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. Journal of Neurology, 1-3.

Trip, S. A., Saifee, T., Honan, W., Chandrashekar, H., Lunn, M. P., Yousry, T., Reilly, M. M. (2012). Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement.. J Neurol, 259(6), 1238-1240. doi:10.1007/s00415-011-6326-0

Morrow, J. M., & Reilly, M. M. (2011). The Babinski sign.. Br J Hosp Med (Lond), 72(10), M157-M159. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22041660

Rossor, A. M., Kalmar, B., Greensmith, L., & Reilly, M. M. (2012). The distal hereditary motor neuropathies.. J Neurol Neurosurg Psychiatry, 83(1), 6-14. doi:10.1136/jnnp-2011-300952

Murphy, S. M., Herrmann, D. N., McDermott, M. P., Scherer, S. S., Shy, M. E., Reilly, M. M., Pareyson, D. (2011). Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.. J Peripher Nerv Syst, 16(3), 191-198. doi:10.1111/j.1529-8027.2011.00350.x

Morrow, J. M., D'Sa, S., Page, R. A., Hilali, M. A., Lunn, M. P., & Reilly, M. M. (2012). Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia.. J Neurol, 259(3), 571-573. doi:10.1007/s00415-011-6217-4

Siskind, C. E., Neal, S., Pareyson, D., Finkel, R., Burns, J., Scherer, S. S., Shy, M. E. (2011). UPDATE - INHERITED NEUROPATHIES CONSORTIUM. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S128-S129). Potomac, MD: WILEY-BLACKWELL.

Rossor, A. M., Kalmar, B., Cheetham, M., Schiavo, G., Reilly, M. M., & Greensmith, L. (2011). AN IN-VITRO STUDY OF DISTAL HEREDITARY MOTOR NEUROPATHY DUE TO HOMOZYGOUS HSJ1 MUTATIONS. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S119-S120). Potomac, MD: WILEY-BLACKWELL.

Ramdharry, G. M., Pollard, A. J., Anderson, C. A., Laura, M., Murphy, S. M., Hutton, E. J., Reilly, M. M. (2011). STRENGTHENING HIPS FLEXORS TO IMPROVE WALKING DISTANCE IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S115-S116). Potomac, MD: WILEY-BLACKWELL.

Ramdharry, G. M., Entwistle, L., & Reilly, M. M. (2011). FALLS IN ADULTS WITH CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S115). Potomac, MD: WILEY-BLACKWELL.

Pareyson, D., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L.,  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. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S104-S105). Potomac, MD: WILEY-BLACKWELL.

Pareyson, D., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L.,CMT-TRIAAL & CMT-TRAUK Grp. (2011). HOW TO DETECT DISEASE PROGRESSION AND TREAMENT EFFECT IN CHARCOT-MARIE-TOOTH DISEASE? RESPONSIVENESS OF CLINICAL OUTCOME MEASURES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S103-S104). Potomac, MD: WILEY-BLACKWELL.

Murphy, S. M., Siskind, C. E., Ovens, R., Polke, J., Laura, M., Houlden, H., Reilly, M. M. (2011). X-INACTIVATION PATTERN IN FEMALES WITH CMTX1. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S94). Potomac, MD: WILEY-BLACKWELL.

Murphy, S. M., Herrmann, D. N., McDermott, M., Shy, M. E., Reilly, M. M., & Pareyson, D. (2011). RELIABILITY OF THE CMT NEUROPATHY SCORE (SECOND VERSION) IN CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S93-S94). Potomac, MD: WILEY-BLACKWELL.

Murphy, S. M., Davidson, G. L., Laura, M., Salih, M. A. M., Muntoni, F., Lunn, M. P.,Reilly, M. M. (2011). GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN). In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S93). Potomac, MD: WILEY-BLACKWELL.

Morrow, J. M., Sinclair, C. D. J., Fischmann, A., Thornton, J. S., Laura, M., Yousry, T. A.,Reilly, M. M. (2011). QUANTITATIVE MAGNETIC RESONANCE IMAGING OF MUSCLE IN CHARCOT-MARIE-TOOTH DISEASE 1A-A POTENTIAL OUTCOME MEASURE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S90). Potomac, MD: WILEY-BLACKWELL.

Morrow, J. M., Dewar, E. L., Ramdharry, G. M., Laura, M., Yousry, T. A., Hanna, M. G., Reilly, M. M. (2011). ISOMETRIC AND ISOKINETIC LOWER LIMB STRENGTH IN CHARCOT-MARIE-TOOTH DISEASE 1A. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S90). Potomac, MD: WILEY-BLACKWELL.

Laura, M., Eichler, F. S., Hornemann, T., Polke, J., Davis, M., Bull, K., . Reilly, M. M. (2011). HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S72-S73). Potomac, MD: WILEY-BLACKWELL.

Kalmar, B., Innes, A., Rossor, A. M., Houlden, H., Schiavo, G., Reilly, M. M., Greensmith, L. (2011). ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S62-S63). Potomac, MD: WILEY-BLACKWELL.

Fawcett, K., Murphy, S. M., Reilly, M. M., & Houlden, H. (2011). TRPV4 MUTATIONS AND FUNCTIONAL CHARACTERISATION IN A COHORT OF PATIENTS WITH HEREDITARY NEUROPATHY. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S36). Potomac, MD: WILEY-BLACKWELL.

Burns, J., Finkel, R., Estilow, T., Hiscock, A., Laura, M., Swingle, P., hy, M. E. (2011). FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S16). Potomac, MD: WILEY-BLACKWELL.

Burns, J., Finkel, R., Estilow, T., Hiscock, A., Laura, M., Swingle, P., . . . Shy, M. E. (2011). DEVELOPMENT, RELIABILITY AND VALIDITY OF THE CHARCOT-MARIE-TOOTH DISEASE PEDIATRIC SCALE (CMTPEDS). In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S15-S16). Potomac, MD: WILEY-BLACKWELL.

Nethisinghe, S., Clayton, L., Vermeer, S., Chapple, J. P., Reilly, M., Bremner, F.,  Giunti, P. (2011). Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. NEURO-OPHTHALMOLOGY, 35(4), 197-201. doi:10.3109/01658107.2011.595043
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Thornton, J. S. (2012). Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.. NMR Biomed, 25(2), 262-270. doi:10.1002/nbm.1744

Pareyson, D., Schenone, A., Reilly, M. M., Fabrizi, G. M., Cavallaro, T., Santoro, L., CMT-TRIAAL & CMT-TRAUK Grp. (2011). SENSITIVITY TO CHANGE OF CLINICAL OUTCOME MEASURES IN CHARCOT-MARIE-TOOTH DISEASE. In JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Vol. 16 (pp. S29-S30). Bologna, ITALY: WILEY-BLACKWELL.

Saporta, M. A., Katona, I., Zhang, X. B., Roper, H. P., McClelland, L., Macdonald, F.,  Li, J. (2011). Neuropathy in a Human Without the PMP22 Gene. ARCH NEUROL-CHICAGO, 68(6), 814-821.

Polke, J. M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Reilly, M. M. (2011). Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.. Neurology, 77(2), 168-173. doi:10.1212/WNL.0b013e3182242d4d
Siskind, C. E., Murphy, S. M., Ovens, R., Polke, J., Reilly, M. M., & Shy, M. E. (2011). Phenotype expression in women with CMT1X.. J Peripher Nerv Syst, 16(2), 102-107. doi:10.1111/j.1529-8027.2011.00332.x

Sinclair, C. D., Morrow, J. M., Miranda, M. A., Davagnanam, I., Cowley, P. C., Mehta, H., Thornton, J. S. (2012). Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies.. J Neurol Neurosurg Psychiatry, 83(1), 29-32. doi:10.1136/jnnp.2011.246116

Sinclair, C. D. J., Morrow, J. M., Hanna, M. G., Reilly, M. M., Yousry, T. A., Golay, X., Thornton, J. S. (2011). Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S29). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.

Sinclair, C. D. J., Morrow, J. M., Fischmann, A., Hanna, M. G., Reilly, M. M., Yousry, T. A., Thornton, J. S. (2011). MRI shows increased tibial nerve size in CMT1A. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S28). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.

Saifee, T. A., Parees, I., Kassavetis, R., Reilly, M. M., Kaski, D., Bronstein, A. M., Edwards, M. J. (2011). Tremor in Charcot-Marie-Tooth disease. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S19). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.
Rossor, A., Houlden, H., & Reilly, M. M. (2011). A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S18-S19). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.

Ramdharry, G. M., Entwistle, L., & Reilly, M. M. (2011). Frequency and circumstances of falls for adults with Charcot-Marie-Tooth disease. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S18). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.

Pandraud, A., Murphy, S. M., Laura, M., Reilly, M. M., & 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. In NEUROMUSCULAR DISORDERS Vol. 21 (pp. S18). London, ENGLAND: PERGAMON-ELSEVIER SCIENCE LTD.