Dr Manoj Menezes

Clinical Senior Lecturer
Children's Hospital at Westmead Clinical School

Telephone +61 2 9845 2551
Fax +61 2 9845 3905

Website Arthritis and Musculoskeletal Research Group

Map

Current research students

Project title Research student
Development and validation of the Charcot-Marie-Tooth disease Infant Scale as an outcome measure for disease severity Melissa MANDARAKAS
Personalised orthotic therapy using 3D printing technologies Liz WOJCIECHOWSKI

Selected publications

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Book Chapters

  • Ouvrier, R., Menezes, M. (2014). Giant axonal neuropathy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 142-145). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Neuroaxonal dystrophy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 146-148). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Peripheral nerve involvement in neurolipidoses. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 149-157). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Johnson, S., Menezes, M. (2012). Motor and coordination problems. In Sandra Johnson (Eds.), A Clinical Handbook on Child Development Paediatrics, (pp. 40-49). Sydney: Churchill Livingstone.
  • Nagesh, K., Menezes, M. (2009). Birth Trauma. In Unknown (Eds.), Achar’s Textbook of Pediatrics (Fourth Edition), (pp. 172-177). India: Universities Press (India) Private Limited.

Journals

  • Cornett, K., Menezes, M., Bray, P., Halaki, M., Burns, J. (2017). Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency type 2. Journal of the Peripheral Nervous System, Article in press. [More Information]
  • Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture, 56, 89-94. [More Information]
  • Cornett, K., Menezes, M., Shy, R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S., Bhandari, T., Muntoni, F., Bray, P., Halaki, M., Burns, J., et al (2017). Natural history of Charcot-Marie-Tooth disease during childhood. Annals of Neurology, 82(3), 353-359. [More Information]
  • Burns, J., Sman, A., Cornett, K., Wojciechowski, E., Walker, T., Menezes, M., Mandarakas, M., Rose, K., Bray, P., Sampaio, H., Refshauge, K., Raymond, J., et al (2017). Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial. The Lancet Child & Adolescent Health, 1(2), 106-113. [More Information]
  • Menezes, M., O'Brien, K., Hill, M., Webster, R., Antony, J., Ouvrier, R., Birman, C., Gardner-Berry, K. (2016). Auditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiency. Developmental Medicine and Child Neurology, 58(8), 848-854. [More Information]
  • Tantsis, E., Gill, D., Griffiths, L., Gupta, S., Lawson, J., Maksemous, N., Ouvrier, R., Riant, F., Smith, R., Troedson, C., et al (2016). Eye movement disorders are an early manifestation of CACNA1A mutations in children. Developmental Medicine and Child Neurology, 58(6), 639-644. [More Information]
  • Menezes, M., Rahman, S., Bhattacharya, K., Clark, D., Christodoulou, J., Ellaway, C., Farrar, M., Pitt, M., Sampaio, H., Ware, T., Ouvrier, R., et al (2016). Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion, 30, 162-167. [More Information]
  • Menezes, M., Farrar, M., Webster, R., Antony, J., O'Brien, K., Ouvrier, R., Kiernan, M., Burns, J., Vucic, S. (2016). Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. Clinical Neurophysiology, 127(1), 911-918. [More Information]
  • Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Burns, J., et al (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645-651. [More Information]
  • O'Grady, G., Ma, A., Sival, D., Wong, M., Peduto, A., Menezes, M., Young, H., Waddell, L., Ghaoui, R., Needham, M., Lek, M., Clarke, N., et al (2016). Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics, 24(8), 1216-1219. [More Information]
  • O'Grady, G., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J., Pride, N., Best, H., Benavides Damm, T., Turner, C., North, K., Clarke, N., Cooper, S., et al (2016). Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology, 87(14), 1442-1448. [More Information]
  • Brewer, M., Chaudhry, R., Qi, J., Kidambi, A., Drew, A., Menezes, M., Ryan, M., Farrar, M., Mowat, D., Subramanian, G., Young, H., Nicholson, G., Kennerson, M., et al (2016). Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genetics, 12(7), Article number e1006177. [More Information]
  • Guo, Y., Menezes, M., Menezes, M., Liang, J., Li, D., Riley, L., Clarke, N., Andrews, P., Tian, L., Webster, R., Christodoulou, J., et al (2015). Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscular Disorders, 25, 257-261. [More Information]
  • Pillai, S., Hacohen, Y., Tantsis, E., Prelog, K., Merheb, V., Kesson, A., Barnes, E., Gill, D., Webster, R., Menezes, M., Brilot-Turville, F., Dale, R., et al (2015). Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome. Pediatrics, 135(4), e974-e984. [More Information]
  • Rossor, A., Oates, E., Salter, H., Liu, Y., Murphy, S., Schule, R., Gonzalez, M., Scoto, M., Phadke, R., Sewry, C., Rodriguez, M., Menezes, M., Clarke, N., North, K., et al (2015). Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain, 138(2), 293-310. [More Information]
  • Rossor, A., Oates, E., Slater, H., Liu, Y., Murphy, S., Schule, R., Gonzales, M., Scoto, M., Phadke, R., Sewry, C., Rodriguez, M., Menezes, M., Clarke, N., North, K., et al (2015). Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain, 138(11), 1-2. [More Information]
  • Menezes, M., Waddell, L., Lenk, G., Kaur, S., Macarthur, D., Meisler, M., Clarke, N. (2015). Response. Neuromuscular Disorders, 25(4), 360-360. [More Information]
  • Sman, A., Hackett, D., Fiatarone Singh, M., Fornusek, C., Menezes, M., Burns, J. (2015). Systematic review of exercise for Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System, 20(4), 347-362. [More Information]
  • Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E., Battini, R., Beresford, M., Dale, R., Menezes, M., et al (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature Genetics, 46(5), 503-509. [More Information]
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2014). Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease. Journal of Physiotherapy, 60(1), 55-55. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Menezes, M., Waddell, L., Lenk, G., Kaur, S., MacArthur, D., Meisler, M., Clarke, N. (2014). Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders, 24(8), 666-670. [More Information]
  • Menezes, M., Nowland, T., Onikul, E. (2013). Diffusion-Weighted Imaging Changes Caused by Acute Hypoglycemia and Prolonged Febrile Convulsion in Childhood. American Journal Of Neuroradiology, 34(4), E43-E44. [More Information]
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. The American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Cottenie, E., Menezes, M., Rossor, A., Morrow, J., Yousry, T., Dick, D., Anderson, J., Jaunmuktane, Z., Brandner, S., Blake, J., et al (2013). Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders, 23(5), 399-403. [More Information]
  • Burns, J., Menezes, M., Finkel, R., Estilow, T., Moroni, I., Pagliano, E., Laura, M., Muntoni, F., Herrmann, D., Eichinger, K., et al (2013). Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System, 18(2), 177-180. [More Information]
  • Cederquist, G., Luchniak, A., Tischfield, M., Peeva, M., Song, Y., Menezes, M., Chan, W., Andrews, C., Chew, S., Jamieson, R., Gomes, L., et al (2012). An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics, 21(26), 5484-5499. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Menezes, M., North, K. (2012). Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health, 48(6), 458-465. [More Information]
  • Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schöneborn, S., Menezes, M., Hong, J., Leong, D., Senderek, J., Salman, M., Chitayat, D., et al (2012). Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nature Genetics, 44(6), 704-708. [More Information]
  • Menezes, M., Ouvrier, R. (2012). Peripheral neuropathy associated with mitochondrial disease in children. Developmental Medicine and Child Neurology, 54(5), 407-414. [More Information]

Conferences

  • Yiu, E., Burns, J., Menezes, M., Ryan, M. (2017). Development of best practice guidelines for paediatric Charcot-Marie-Tooth disease. 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting, Minneapolis, MN, USA: Peripheral Nerve Society.
  • Burns, J., Menezes, M., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Estilow, T., Yum, S., Finkel, R., Herrmann, D., et al (2013). Determinants of balance deficit in children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Menezes, M., Farrar, M., Burns, J., Menon, P., Webster, R., Antony, J., Kiernan, M., Vucic, S. (2013). Peripheral motor contributions to the pathophysiology of BVVL-related mutations in riboflavin transporter 3: Pathophysiological insights from nerve excitability testing. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2013). Randomised controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Burns, J., Menezes, M., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Estilow, T., Yum, S., Finkel, R., Herrmann, D., et al (2013). Two year natural history of disease progression in childhood Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.

2017

  • Yiu, E., Burns, J., Menezes, M., Ryan, M. (2017). Development of best practice guidelines for paediatric Charcot-Marie-Tooth disease. 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting, Minneapolis, MN, USA: Peripheral Nerve Society.
  • Cornett, K., Menezes, M., Bray, P., Halaki, M., Burns, J. (2017). Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency type 2. Journal of the Peripheral Nervous System, Article in press. [More Information]
  • Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture, 56, 89-94. [More Information]
  • Cornett, K., Menezes, M., Shy, R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S., Bhandari, T., Muntoni, F., Bray, P., Halaki, M., Burns, J., et al (2017). Natural history of Charcot-Marie-Tooth disease during childhood. Annals of Neurology, 82(3), 353-359. [More Information]
  • Burns, J., Sman, A., Cornett, K., Wojciechowski, E., Walker, T., Menezes, M., Mandarakas, M., Rose, K., Bray, P., Sampaio, H., Refshauge, K., Raymond, J., et al (2017). Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial. The Lancet Child & Adolescent Health, 1(2), 106-113. [More Information]

2016

  • Menezes, M., O'Brien, K., Hill, M., Webster, R., Antony, J., Ouvrier, R., Birman, C., Gardner-Berry, K. (2016). Auditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiency. Developmental Medicine and Child Neurology, 58(8), 848-854. [More Information]
  • Tantsis, E., Gill, D., Griffiths, L., Gupta, S., Lawson, J., Maksemous, N., Ouvrier, R., Riant, F., Smith, R., Troedson, C., et al (2016). Eye movement disorders are an early manifestation of CACNA1A mutations in children. Developmental Medicine and Child Neurology, 58(6), 639-644. [More Information]
  • Menezes, M., Rahman, S., Bhattacharya, K., Clark, D., Christodoulou, J., Ellaway, C., Farrar, M., Pitt, M., Sampaio, H., Ware, T., Ouvrier, R., et al (2016). Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion, 30, 162-167. [More Information]
  • Menezes, M., Farrar, M., Webster, R., Antony, J., O'Brien, K., Ouvrier, R., Kiernan, M., Burns, J., Vucic, S. (2016). Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. Clinical Neurophysiology, 127(1), 911-918. [More Information]
  • Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Burns, J., et al (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645-651. [More Information]
  • O'Grady, G., Ma, A., Sival, D., Wong, M., Peduto, A., Menezes, M., Young, H., Waddell, L., Ghaoui, R., Needham, M., Lek, M., Clarke, N., et al (2016). Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics, 24(8), 1216-1219. [More Information]
  • O'Grady, G., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J., Pride, N., Best, H., Benavides Damm, T., Turner, C., North, K., Clarke, N., Cooper, S., et al (2016). Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology, 87(14), 1442-1448. [More Information]
  • Brewer, M., Chaudhry, R., Qi, J., Kidambi, A., Drew, A., Menezes, M., Ryan, M., Farrar, M., Mowat, D., Subramanian, G., Young, H., Nicholson, G., Kennerson, M., et al (2016). Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genetics, 12(7), Article number e1006177. [More Information]

2015

  • Guo, Y., Menezes, M., Menezes, M., Liang, J., Li, D., Riley, L., Clarke, N., Andrews, P., Tian, L., Webster, R., Christodoulou, J., et al (2015). Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscular Disorders, 25, 257-261. [More Information]
  • Pillai, S., Hacohen, Y., Tantsis, E., Prelog, K., Merheb, V., Kesson, A., Barnes, E., Gill, D., Webster, R., Menezes, M., Brilot-Turville, F., Dale, R., et al (2015). Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome. Pediatrics, 135(4), e974-e984. [More Information]
  • Rossor, A., Oates, E., Salter, H., Liu, Y., Murphy, S., Schule, R., Gonzalez, M., Scoto, M., Phadke, R., Sewry, C., Rodriguez, M., Menezes, M., Clarke, N., North, K., et al (2015). Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain, 138(2), 293-310. [More Information]
  • Rossor, A., Oates, E., Slater, H., Liu, Y., Murphy, S., Schule, R., Gonzales, M., Scoto, M., Phadke, R., Sewry, C., Rodriguez, M., Menezes, M., Clarke, N., North, K., et al (2015). Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain, 138(11), 1-2. [More Information]
  • Menezes, M., Waddell, L., Lenk, G., Kaur, S., Macarthur, D., Meisler, M., Clarke, N. (2015). Response. Neuromuscular Disorders, 25(4), 360-360. [More Information]
  • Sman, A., Hackett, D., Fiatarone Singh, M., Fornusek, C., Menezes, M., Burns, J. (2015). Systematic review of exercise for Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System, 20(4), 347-362. [More Information]

2014

  • Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E., Battini, R., Beresford, M., Dale, R., Menezes, M., et al (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature Genetics, 46(5), 503-509. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Giant axonal neuropathy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 142-145). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Neuroaxonal dystrophy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 146-148). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Peripheral nerve involvement in neurolipidoses. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral nerve disorders: pathology and genetics, (pp. 149-157). Oxford, UK: Wiley-Blackwell Publishing. [More Information]
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2014). Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease. Journal of Physiotherapy, 60(1), 55-55. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Menezes, M., Waddell, L., Lenk, G., Kaur, S., MacArthur, D., Meisler, M., Clarke, N. (2014). Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders, 24(8), 666-670. [More Information]

2013

  • Burns, J., Menezes, M., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Estilow, T., Yum, S., Finkel, R., Herrmann, D., et al (2013). Determinants of balance deficit in children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Menezes, M., Nowland, T., Onikul, E. (2013). Diffusion-Weighted Imaging Changes Caused by Acute Hypoglycemia and Prolonged Febrile Convulsion in Childhood. American Journal Of Neuroradiology, 34(4), E43-E44. [More Information]
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. The American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Menezes, M., Farrar, M., Burns, J., Menon, P., Webster, R., Antony, J., Kiernan, M., Vucic, S. (2013). Peripheral motor contributions to the pathophysiology of BVVL-related mutations in riboflavin transporter 3: Pathophysiological insights from nerve excitability testing. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2013). Randomised controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Cottenie, E., Menezes, M., Rossor, A., Morrow, J., Yousry, T., Dick, D., Anderson, J., Jaunmuktane, Z., Brandner, S., Blake, J., et al (2013). Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders, 23(5), 399-403. [More Information]
  • Burns, J., Menezes, M., Finkel, R., Estilow, T., Moroni, I., Pagliano, E., Laura, M., Muntoni, F., Herrmann, D., Eichinger, K., et al (2013). Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System, 18(2), 177-180. [More Information]
  • Burns, J., Menezes, M., Shy, R., Sanmaneechai, O., Laura, M., Muntoni, F., Estilow, T., Yum, S., Finkel, R., Herrmann, D., et al (2013). Two year natural history of disease progression in childhood Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.

2012

  • Cederquist, G., Luchniak, A., Tischfield, M., Peeva, M., Song, Y., Menezes, M., Chan, W., Andrews, C., Chew, S., Jamieson, R., Gomes, L., et al (2012). An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics, 21(26), 5484-5499. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Menezes, M., North, K. (2012). Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health, 48(6), 458-465. [More Information]
  • Johnson, S., Menezes, M. (2012). Motor and coordination problems. In Sandra Johnson (Eds.), A Clinical Handbook on Child Development Paediatrics, (pp. 40-49). Sydney: Churchill Livingstone.
  • Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schöneborn, S., Menezes, M., Hong, J., Leong, D., Senderek, J., Salman, M., Chitayat, D., et al (2012). Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nature Genetics, 44(6), 704-708. [More Information]
  • Menezes, M., Ouvrier, R. (2012). Peripheral neuropathy associated with mitochondrial disease in children. Developmental Medicine and Child Neurology, 54(5), 407-414. [More Information]

2009

  • Nagesh, K., Menezes, M. (2009). Birth Trauma. In Unknown (Eds.), Achar’s Textbook of Pediatrics (Fourth Edition), (pp. 172-177). India: Universities Press (India) Private Limited.

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