Publications by authors named "Manoj P Menezes"

41Publications

Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.

Neurology 2020 Oct 16. Epub 2020 Oct 16.

From the T.Y. Nelson Department of Neurology and Neurosurgery (M.P.M.), The Children's Hospital at Westmead, NSW, Australia; University of Sydney School of Health Sciences & Children's Hospital at Westmead (J.B., G.D., K.C., M.P.M.), Sydney, Australia; Health Research Institute Hospital La Fe (H.A.E., M.F.) and the Department of Neurology (H.A.E, M.F., T.S.), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Centre for Biomedical Network Research on Rare Diseases-CIBERER (H.A.E., T.S.), Spain; and Department of Medicine (T.S.), University of Valencia, Valencia, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000011054DOI Listing
October 2020

Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy.

Neurology 2020 07 8;95(1):e1-e10. Epub 2020 Jun 8.

From the National Perinatal Epidemiology and Statistics Unit (G.M.C., S.N.S.), School of Women's and Children's Health and the Centre for Big Data Research in Health, University of New South Wales (UNSW) Sydney; Discipline of Paediatrics (K.A.C., M.A.F.), School of Women's and Children's Health, UNSW Medicine, UNSW Sydney; Department of Neurology (M.A.F.), Sydney Children's Hospital Randwick; Neurosciences Department (A.C.), Queensland Children's Hospital; Department of Neurology (M.P.M.), Children's Hospital at Westmead; University of Sydney (M.P.M.), New South Wales; Neurosciences Research (M.R.), Murdoch Children's Research Institute, Melbourne, Victoria; and Department of Paediatrics (M.R.), University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000009715DOI Listing
July 2020

Surgical outcomes of cavovarus foot deformity in children with Charcot-Marie-Tooth disease.

Neuromuscul Disord 2019 06 26;29(6):427-436. Epub 2019 Apr 26.

The University of Sydney, Faculty of Health Sciences, Sydney, New South Wales, Australia; Paediatric Gait Analysis Service of New South Wales, Orthopaedic Department, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.nmd.2019.04.004DOI Listing
June 2019

Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 09 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

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.

Muscle Nerve 2019 02 19;59(2):213-217. Epub 2018 Dec 19.

Sydney Children's Hospitals Network (Randwick and Westmead), The University of Sydney, Locked Bag 4001, Westmead, Sydney, New South Wales, 2145, Australia.

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http://dx.doi.org/10.1002/mus.26352DOI Listing
February 2019

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Seizure 2018 Jul 28;59:132-140. Epub 2018 May 28.

Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.05.005DOI Listing
July 2018

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Neurology 2018 05 6;90(19):e1706-e1710. Epub 2018 Apr 6.

From the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.

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http://dx.doi.org/10.1212/WNL.0000000000005479DOI Listing
May 2018

Nusinersen for SMA: expanded access programme.

J Neurol Neurosurg Psychiatry 2018 09 16;89(9):937-942. Epub 2018 Mar 16.

Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1136/jnnp-2017-317412DOI Listing
September 2018

Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review.

J Peripher Nerv Syst 2018 06 23;23(2):99-107. Epub 2018 Mar 23.

Faculty of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jns.12258DOI Listing
June 2018

Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.

J Peripher Nerv Syst 2018 Mar 11;23(1):29-35. Epub 2017 Dec 11.

Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jns.12245DOI Listing
March 2018

Gait patterns of children and adolescents with Charcot-Marie-Tooth disease.

Gait Posture 2017 07 8;56:89-94. Epub 2017 May 8.

The University of Sydney, Faculty of Health Science, Sydney, New South Wales, Australia; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.gaitpost.2017.05.005DOI Listing
July 2017

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.

Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.mito.2016.07.014DOI Listing
September 2016

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Dev Med Child Neurol 2016 06 27;58(6):639-44. Epub 2016 Jan 27.

TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1111/dmcn.13033DOI Listing
June 2016

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Clin Neurophysiol 2016 Jan 3;127(1):911-918. Epub 2015 Jun 3.

Department of Neurology, Westmead Hospital and Western Clinical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.clinph.2015.05.012DOI Listing
January 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Systematic review of exercise for Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2015 Dec;20(4):347-62

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia.

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http://doi.wiley.com/10.1111/jns.12116
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http://dx.doi.org/10.1111/jns.12116DOI Listing
December 2015

Response.

Neuromuscul Disord 2015 Apr 29;25(4):360. Epub 2014 Dec 29.

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http://dx.doi.org/10.1016/j.nmd.2014.12.008DOI Listing
April 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscul Disord 2014 Aug 4;24(8):666-70. Epub 2014 May 4.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096049PMC
August 2014

Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease.

J Physiother 2014 Mar 9;60(1):55; discussion 55. Epub 2014 May 9.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead - The University of Sydney; Faculty of Health Sciences, The University of Sydney.

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http://dx.doi.org/10.1016/j.jphys.2013.12.015DOI Listing
March 2014

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

Neuromuscul Disord 2013 May 13;23(5):399-403. Epub 2013 Mar 13.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.01.010DOI Listing
May 2013

Peripheral neuropathy associated with mitochondrial disease in children.

Dev Med Child Neurol 2012 May 21;54(5):407-14. Epub 2012 Mar 21.

The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04271.xDOI Listing
May 2012

Inherited neuromuscular disorders: pathway to diagnosis.

J Paediatr Child Health 2012 Jun 3;48(6):458-65. Epub 2011 Nov 3.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02210.xDOI Listing
June 2012