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.