Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Menezes, Mp"'
Publikováno v:
In Neuromuscular Disorders June 2023 33(6):531-538
Publikováno v:
Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
To describe the clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f18795111e93f6276dd4582061b3b2ae
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13275
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13275
Autor:
Rice, Gi, Del Toro Duany, Y, Jenkinson, Em, Forte, Gm, Anderson, Bh, Ariaudo, G, Bader-Meunier, B, Baildm, Em, Battini, R, Beresford, Mw, Casarano, M, Chouchane, M, Cimaz, R, Collins, Ae, Cordeiro, Nj, Dale, Rc, Davidson, Je, Waelel, De, Desguerre, I, Faivre, L, Fazzi, E, Isidor, B, Lagae, L, Larchman, Ar, Lebon, P, Li, C, Livingston, Jh, Lourenço, Cm, Mancardi, Mm, Masurel-Paulet, A, Mcinnes, Ib, Menezes, Mp, Mignot, C, O'Sullivan, J, Orcesi, S, Picco, Pp, Riva, E, Robinson, Ra, Rodriguez, D, Salvatici, E, Scott, C, Szybowska, M, Tolmie, Jl, Vanderver, A, Vanhulle, C, Vieira, Jp, Webb, K, Whitney, Rn, Williams, Sg, Wolfe, La, Zuberi, Sm, Hur, S, Crow, Yj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3728::6511a69cdd6ee2ca56e9c531cb27d106
http://hdl.handle.net/11568/951205
http://hdl.handle.net/11568/951205
Autor:
Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, Houlden, H
Publikováno v:
Brain : a journal of neurology. 137(Pt 1)
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progress
Autor:
Fennessy JR; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia., Cornett KMD; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., Donlevy GA; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., Mckay MJ; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia., Burns J; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., Menezes MP; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Sep 09. Date of Electronic Publication: 2024 Sep 09.
Autor:
Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au.; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au., Sabui S; Department of Physiology/Biophysics, University of California, Irvine, CA, USA.; Department of Research, Veterans Affairs Medical Center, Long Beach, CA, USA., Said HM; Department of Physiology/Biophysics, University of California, Irvine, CA, USA.; Department of Research, Veterans Affairs Medical Center, Long Beach, CA, USA.; Department of Medicine, University of California, Irvine, CA, USA., Niaz A; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Division of Reproductive Genetics, Department of Reproductive Science, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Kilo T; Haematology Department, Children's Hospital at Westmead, Westmead, NSW, Australia., Smith J; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia., Wong RSH; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Menezes MP; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, NSW, Australia., Gupta S; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Cooper ST; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia., Balasubramaniam S; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 947-953. Date of Electronic Publication: 2024 May 30.
Autor:
Fennessy JR; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia., Donlevy GA; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., McKay MJ; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia., Burns J; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., Cornett KMD; Faculty of Medicine and Health, University of Sydney School of Health Sciences, Sydney, New South Wales, Australia.; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia., Menezes MP; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 185-192. Date of Electronic Publication: 2024 Mar 06.
Autor:
Li L; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia; Division of Paediatric Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Menezes MP; T.Y. Nelson Department of Neurology and Neurosurgery and Kids Neuroscience Centre, The Children's Hospital Westmead, Sydney, New South Wales, Australia; Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Smith M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia., Forbes R; Neuroscience Research Group, Murdoch Children's Research Institute, Victoria, Australia., Züchner S; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, United States of America., Burgess A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia., Woodcock IR; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia; Neuroscience Research Group, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia., Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Australia., Yiu EM; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia; Neuroscience Research Group, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia. Electronic address: Eppie.Yiu@rch.org.au.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Apr; Vol. 37, pp. 29-35. Date of Electronic Publication: 2024 Mar 12.
Autor:
Billich N; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Australia., Bray P; Children's Hospital, Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia., Truby H; School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Australia.; School of Primary and Allied Health Care Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia., Evans M; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Australia., Ryan MM; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, Melbourne University, Melbourne, Australia., Carroll K; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Physiotherapy, School of Primary and Allied Health Care, Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia., de Valle K; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia., Villano D; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia., Kornberg A; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia., Sowerby B; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia., Farrar MA; Department of Neurology, Sydney Children's Hospital, Sydney, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, Australia., Menezes MP; Children's Hospital, Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia., Holland S; Department of Neurology, Sydney Children's Hospital, Sydney, Australia., Lindeback R; Department of Neurology, Sydney Children's Hospital, Sydney, Australia., Cairns A; Department of Neurology, Queensland Children's Hospital, Brisbane, Australia., Davidson ZE; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Apr; Vol. 69 (4), pp. 448-458. Date of Electronic Publication: 2024 Feb 14.
Autor:
Wittmaack MCN; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Conceição MEBAM; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Vera MCM; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Faccini RI; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Sembenelli G; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Montanhim GL; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Menezes MP; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Rocha FDL; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Aires LPN; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil., Moraes PC; Universidade Estadual Paulista 'Júlio de Mesquita Filho' - School of Agrarian Sciences and Veterinary - Department of Veterinary Surgery - Jaboticabal (São Paulo) - Brazil.
Publikováno v:
Acta cirurgica brasileira [Acta Cir Bras] 2023 Dec 01; Vol. 38, pp. e383523. Date of Electronic Publication: 2023 Dec 01 (Print Publication: 2023).