Browsing by Author Menezes, Manoj

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Issue DateTitleAuthor(s)Citation
2016Auditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiencyMenezes, Manoj; Ouvrier, Robert; Antony, Jayne; Birman, Catherine; Gardner-Berry, Kirsty; Hill, Mandy; O'Brien, Katherine; Webster, Richard; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthAuditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiency, Developmental Medicine and Child Neurology, vol.58, 8, 2016,pp 848-854
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2018Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyArdern-Holmes, Simone; Bennetts, Bruce; Dale, Russell; Gill, Deepak; Ho, Gladys; Kothur, Kavitha; Lorentzos, Michelle; Menezes, Manoj; Procopis, Peter; Webster, Richard; Anthony, Jayne; Christodoulou, John; Farnsworth, Elizabeth; Gupta, Sachin; Holman, katherine; Troedson, Chris; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthDiagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy, Seizure, vol.59, N/A, 2018,pp 132-140
2014Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingDale, Russell; Menezes, Manoj; Anderson, Beverley; Ariaudo, Giada; Bader-Meunier, Brigitte; Baildam, Eileen; Battini, Roberta; Beresford, Michael W; del Toro Duany, Yoandris; et al, Various; Forte, Gabriella M A; Jenkinson, Emma; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation SciencesGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, Nature Genetics, vol.46, 5, 2014,pp 503-509
2017Gait patterns of children and adolescents with Charcot-Marie-Tooth diseaseBurns, Joshua; Cornett, Kayla; Menezes, Manoj; Raymond, Jacqueline; Refshauge, Kathryn; Sman, Amy; Wojciechowski, Elizabeth; Clinical and Rehabilitation Sciences; Physiotherapy; Clinical and Rehabilitation Sciences; Exercise Health and Performance; Clinical and Rehabilitation Sciences; Clinical and Rehabilitation Sciences; Health SciencesGait patterns of children and adolescents with Charcot-Marie-Tooth disease, Gait and Posture, vol.56, N/A, 2017,pp 89-94
2014Giant axonal neuropathyMenezes, Manoj; Ouvrier, Robert; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthGiant axonal neuropathy in Peripheral nerve disorders: pathology and genetics, Wiley-Blackwell Publishing, 2014, pp. 142-145
2012Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyClarke, Nigel; Cooper, Sandra; Evesson, Frances; Jones, Kristi; Menezes, Manoj; North, Kathryn; Waddell, Leigh; Corbett, Alastair; Harbord, M; Johnston, H; Kiernan, Matthew; Mowat, D; Webster, Richard; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthImportance and challenge of making an early diagnosis in LMNA-related muscular dystrophy, Neurology, vol.78, 16, 2012,pp 1258-1263
2015Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term OutcomeBarnes, Elizabeth; Brilot-Turville, Fabienne; Dale, Russell; Merheb, V.; Pillai, Sekhar; Tantsis, Esther; Ardern-Holmes, Simone; et al, Various; Gill, Deepak S; Gupta, Sachin; Hacohen, Yael; Kesson, Alison; Menezes, Manoj; Prelog, Kristina; Procopis, Peter; Troedson, Chris; Webster, Richard; NH&MRC Clinical Trials Centre; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsInfectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome, Pediatrics, vol.135, 4, 2015,pp e974-e984
2012An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGomes, Lavier; Jamieson, Robyn; Menezes, Manoj; Andrews, Caroline; Cederquist, Gustav; Chan, Wai-Man; Chew, Sheena; Engle, Elizabeth C.; Flaherty, Maree; Grant, Patricia Ellen; Gupta, Mohan; Luchniak, Anna; Peeva, Maya; Song, Yuyu; Tischfield, Max A.; Western Clinical School: Imaging; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation, Human Molecular Genetics, vol.21, 26, 2012,pp 5484-5499
2012Motor and coordination problemsJohnson, Sandra Lucille; Menezes, Manoj; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation SciencesMotor and coordination problems in A Clinical Handbook on Child Development Paediatrics, Churchill Livingstone, 2012, pp. 40-49
2013Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaClarke, Nigel; Menezes, Manoj; Oates, Emily; Auer-Grumbach, Michaela; Cottenie, Ellen; et al, Various; Foley, A Reghan; Gonzalez, Michael; Greensmith, Linda; Hafezparast, Majid; Houlden, Henry; Hurles, Matthew; Lek, Monkol; MacArthur, Daniel; Pieber, Thomas R; Rossor, Alexander; Scoto, Mariacristina; Speziani, Fiorella; Strom, Tim M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia, American Journal of Human Genetics, vol.92, 6, 2013,pp 965-973
2017Natural history of Charcot-Marie-Tooth disease during childhoodBray, Paula; Burns, Joshua; Cornett, Kayla; Halaki, Mark; Menezes, Manoj; Bhandari, Trupti; Eichinger, Kate; Estilow, Tim; Finkel, Richard S.; Herrmann, David; Laura, Matilde; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pareyson, Davide; Reilly, Mary M.; Shy, Michael; Shy, Rosemary; Yum, Sabrina; School of Medical Sciences: School of Medical Sciences; Clinical and Rehabilitation Sciences; Physiotherapy; Exercise Health and Performance; Clinical and Rehabilitation SciencesNatural history of Charcot-Marie-Tooth disease during childhood, Annals of Neurology, vol.82, 3, 2017,pp 353-359
2014Neuroaxonal dystrophyMenezes, Manoj; Ouvrier, Robert; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthNeuroaxonal dystrophy in Peripheral nerve disorders: pathology and genetics, Wiley-Blackwell Publishing, 2014, pp. 146-148
2016Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseBhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Menezes, Manoj; Ouvrier, Robert; Clark, Damian; Farrar, Michelle; Pitt, Matthew; Rahman, Shamima; Ryan, Monique; Sampaio, Hugo; Thorburn, David; Ware, Tyson L; Wedatilake, Yehani; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthNeurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease, Mitochondrion, vol.30, N/A, 2016,pp 162-167
2016Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporterBurns, Joshua; Kiernan, Matthew; Menezes, Manoj; Ouvrier, Robert; Vucic, Steve; Antony, Jayne; Farrar, Michelle; O'Brien, Katie; Webster, Richard; Clinical and Rehabilitation Sciences; Central Clinical School: Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter, Clinical Neurophysiology, vol.127, 1, 2016,pp 911-918
2014Peripheral nerve involvement in neurolipidosesMenezes, Manoj; Ouvrier, Robert; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthPeripheral nerve involvement in neurolipidoses in Peripheral nerve disorders: pathology and genetics, Wiley-Blackwell Publishing, 2014, pp. 149-157
2012Peripheral neuropathy associated with mitochondrial disease in children.Menezes, Manoj; Ouvrier, RobertPeripheral neuropathy associated with mitochondrial disease in children., Developmental Medicine and Child Neurology, vol.54, 4, 2012,pp 407-414
2015Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Clarke, Nigel; Menezes, Manoj; North, Kathryn; Oates, Emily; Rodriguez, Michael; et al, Various; Gonzalez, Michael; Houlden, Henry; Liu, Yang; Murphy, Sinead; Phadke, Rahul; Rossor, Alexander; Salter, Hannah; Schule, Rebecca; Scoto, Mariacristina; Sewry, Caroline A; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; AnaesthesiaPhenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2, Brain, vol.138, 2, 2015,pp 293-310
2016Phenotypic variability of childhood Charcot-Marie-Tooth diseaseBray, Paula; Burns, Joshua; Cornett, Kayla; Halaki, Mark; Menezes, Manoj; Bhandari, Trupti; Eichinger, Kate; Estilow, Tim; Finkel, Richard; Herrmann, David; Laura, Matilde; Maria Foscan, Maria Foscan; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pareyson, Davide; Reilly, M; Shy, Michael; Shy, Rosemary; Sowden, Janet; Yum, Sabrina W; School of Medical Sciences: School of Medical Sciences; Clinical and Rehabilitation Sciences; Physiotherapy; Exercise Health and Performance; Clinical and Rehabilitation SciencesPhenotypic variability of childhood Charcot-Marie-Tooth disease, JAMA Neurology, vol.73, 6, 2016,pp 645-651
2016Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseClarke, Nigel; Ghaoui, Roula; Lek, Monkol; Ma, Alan; Menezes, Manoj; O'Grady, Gina Louise; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N; Peduto, Anthony J.; Sival, Deborah; van Ravenswaaij-Arts, Conny MA; Waddell, Leigh; Wong, Monica TY; Young, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthProminent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease, European Journal of Human Genetics, vol.24, 8, 2016,pp 1216-1219