The Children's Hospital at Westmead
Cnr Hawkesbury Road and Hainsworth Street
Westmead NSW NSW 2145
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
KMD Cornett, MP Menezes, P Bray, RR Shy, I Moroni, E Pagliano, D Pareyson, T Estilow, SW Yum, T Bhandari, F Muntoni, M Laura, MM Reilly, RS Finkel, KJ Eichinger, DN Herrmann, ME Shy, J Burns; CMTPedS Study Group.
Ann Clin Transl Neurol. 2020 August 6.
Surgical outcomes of cavovarus foot deformity in children with Charcot-Marie-Tooth disease.
T Lin, P Gibbons, AJ Mudge, KMD Cornett, MP Menezes, J Burns.
Neuromuscul Disord. 2019 June.
Balance impairment in pediatric Charcot-Marie-Tooth disease.
T Estilow, AM Glanzman, J Burns, A Harrington, K Cornett, MP Menezes, R Shy, I Moroni, E Pagliano, D Pareyson, T Bhandari, F Muntoni, M Laurá, MM Reilly, RS Finkel, KJ Eichinger, DN Herrmann, G Troutman, P Bray, M Halaki, ME Shy, SW Yum; CMTPedS STUDY GROUP.
Muscle Nerve. 2019 Sep.
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
MR Mandarakas, MP Menezes, KJ Rose, R Shy, K Eichinger, M Foscan, T Estilow, R Kennedy, K Herbert, P Bray, K Refshauge, MM Ryan, EM Yiu, M Farrar, H Sampaio, I Moroni, E Pagliano, D Pareyson, SW Yum, DN Herrmann, G Acsadi, ME Shy, J Burns, O Sanmaneechai.
Brain. 2018 Dec 1.
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease.
KMD Cornett, E Wojciechowski, AD Sman, T Walker, MP Menezes, P Bray, M Halaki, J Burns; FAST Study Group.
Muscle Nerve. 2019 Feb.
Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial.
J Burns, AD Sman, KMD Cornett, E Wojciechowski, T Walker, MP Menezes, MR Mandarakas, KJ Rose, P Bray, H Sampaio, M Farrar, KM Refshauge, J Raymond; FAST Study Group.
Lancet Child Adolesc Health. 2017 Oct.
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
M Kanhangad, K Cornett, MH Brewer, GA Nicholson, MM Ryan, RL Smith, GM Subramanian, HK Young, S Züchner, ML Kennerson, J Burns, MP Menezes.
Neurology. 2018 May 8.
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.
KMD Cornett, MP Menezes, P Bray, M Halaki, J Burns.
J Peripher Nerv Syst. 2018 Mar.
Natural history of Charcot-Marie-Tooth disease during childhood.
KMD Cornett, MP Menezes, RR Shy, I Moroni, E Pagliano, D Pareyson, T Estilow, SW Yum, T Bhandari, F Muntoni, M Laura, MM Reilly, RS Finkel, KJ Eichinger, DN Herrmann, P Bray, M Halaki, ME Shy, J Burns; CMTPedS Study Group.
Ann Neurol. 2017 Sep.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
GL O'Grady, C Verschuuren, M Yuen, R Webster, M Menezes, JM Fock, N Pride, HA Best, T Benavides Damm, C Turner, M Lek, AG Engel, KN North, NF Clarke, DG MacArthur, EJ Kamsteeg, ST Cooper.
Neurology. 2016 Oct 4.
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
MP Menezes, S Rahman, K Bhattacharya, D Clark, J Christodoulou, C Ellaway, M Farrar, M Pitt, H Sampaio, TL Ware, Y Wedatilake, DR Thorburn, MM Ryan, R Ouvrier.
Mitochondrion. 2016 Sep.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
MH Brewer, R Chaudhry, J Qi, A Kidambi, AP Drew, MP Menezes, MM Ryan, MA Farrar, D Mowat, GM Subramanian, HK Young, S Zuchner, SW Reddel, GA Nicholson, ML Kennerson.
PLoS Genet. 2016 Jul 20.
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
KM Cornett, MP Menezes, P Bray, M Halaki, RR Shy, SW Yum, T Estilow, I Moroni, M Foscan, E Pagliano, D Pareyson, M Laurá, T Bhandari, F Muntoni, MM Reilly, RS Finkel, J Sowden, KJ Eichinger, DN Herrmann, ME Shy, J Burns; Inherited Neuropathies Consortium.
JAMA Neurol. 2016 Jun 1.
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
MP Menezes, K O'Brien, M Hill, R Webster, J Antony, R Ouvrier, C Birman, Gardner-Berry K.
Dev Med Child Neurol. 2016 Aug.
Systematic review of exercise for Charcot-Marie-Tooth disease.
AD Sman, D Hackett, M Fiatarone Singh, C Fornusek, MP Menezes, J Burns.
J Peripher Nerv Syst. 2015 Dec.
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.
MP Menezes, L Waddell, GM Lenk, S Kaur, DG MacArthur, MH Meisler, NF Clarke.
Neuromuscular Disorders. 2014 Aug.
Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease.
AD Sman, J Raymond, KM Refshauge, MP Menezes, T Walker, RA Ouvrier, J Burns.
J Physiother. 2014 Mar.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
GI Rice, Y Del Toro Duany, EM Jenkinson, GM Forte, BH Anderson, G Ariaudo, B Bader-Meunier, EM Baildam, R Battini, MW Beresford, M Casarano, M Chouchane, R Cimaz, AE Collins, NJ Cordeiro, RC Dale, JE Davidson, L De Waele, I Desguerre, L Faivre, E Fazzi, B Isidor, L Lagae, AR Latchman, P Lebon, C Li, JH Livingston, CM Lourenço, MM Mancardi, A Masurel-Paulet, IB McInnes, MP Menezes, C Mignot, J O'Sullivan, S Orcesi, PP Picco, E Riva, RA Robinson, D Rodriguez, E Salvatici, C Scott, M Szybowska, JL Tolmie, A Vanderver, C Vanhulle, JP Vieira, K Webb, RN Whitney, SG Williams, LA Wolfe, SM Zuberi, S Hur, YJ Crow.
Nature Genetics. 2014 May.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, AJ Abrams, K Sugano, A Yonezawa, AY Manzur, J Burns, I Hughes, BG McCullagh, H Jungbluth, MJ Lim, JP Lin, A Megarbane, JA Urtizberea, AH Shah, J Antony, R Webster, A Broomfield, J Ng, AA Mathew, .JJ O'Byrne, E Forman, M Scoto, M Prasad, K O'Brien, S Olpin, M Oppenheim, I Hargreaves, JM Land, MX Wang, K Carpenter, R Horvath, V Straub, M Lek, W Gold, MO Farrell, S Brandner, R Phadke, K Matsubara, ML McGarvey, SS Scherer, PS Baxter, MD King, P Clayton, S Rahman, MM Reilly, RA Ouvrier, J Christodoulou, S Züchner, F Muntoni, H Houlden.
Brain. 2014 Jan.
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
J Burns, M Menezes, RS Finkel, T Estilow, I Moroni, E Pagliano, M Laurá, F Muntoni, DN Herrmann, K Eichinger, R Shy, D Pareyson, MM Reilly, ME Shy.
J Peripher Nerv Syst. 2013 Jun.
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
E Cottenie, MP Menezes, AM Rossor, JM Morrow, TA Yousry, DJ Dick, JR Anderson, Z Jaunmuktane, S Brandner, JC Blake, H Houlden, MM Reilly.
Neuromuscular Disorders. 2013 May.
Peripheral neuropathy associated with mitochondrial disease in children.
MP Menezes, RA Ouvrier.
Dev Med Child Neurol. 2012 May.