Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Tomaselli PJ"'
Autor:
Cortese, A, Simone, R, Sullivan, R, Vandrovcova, J, Tariq, H, Yau, Wy, Humphrey, J, Jaunmuktane, Z, Sivakumar, P, Polke, J, Ilyas, M, Tribollet, E, Tomaselli, Pj, Devigili, G, Callegari, I, Versino, M, Salpietro, V, Efthymiou, S, Kaski, D, Wood, Nw, Andrade, Ns, Buglo, E, Rebelo, A, Rossor, Am, Bronstein, A, Fratta, P, Marques, Wj, Zuchner, S, Reilly, Mm, Houlden, H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3660::3a3536b61f099f8199f5b809ccf285da
http://hdl.handle.net/11383/2103480
http://hdl.handle.net/11383/2103480
Autor:
Frezatti RSS; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil., Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil., Record CJ; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Wilson LA; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Alves GM; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil., Dominik N; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Patel K; Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Vandrovcova J; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Männikkö R; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pitceathly RDS; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Sobreira CFDR; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil., McFarland R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Translational and Clinical Research Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Houlden H; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Reilly MM; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Marques W; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; National Institute of Sciences and Technology (INCT)-Translational Medicine Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) e Fundo de Amparo à Pesquisa do Estado de São Paulo (FAPESP), Ribeirao Preto, São Paulo 14040-900, Brazil.
Publikováno v:
Brain communications [Brain Commun] 2024 Nov 14; Vol. 6 (6), pp. fcae342. Date of Electronic Publication: 2024 Nov 14 (Print Publication: 2024).
Autor:
Senem I; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil., Foss MP; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil., Lavigne-Moreira C; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil., Dos Santos AC; Department of Medical Imaging, Hematology and Clinical Oncology, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14040-900, SP, Brazil., de França Nunes RF; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., França Júnior MC; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Tomaselli PJ; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil., Axelsson J; Department of Diagnostics and Interventions, Radiation Physics, Umeå University, Umeå, Sweden., Wixner J; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Marques W Jr; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil. wmjunior@fmrp.usp.br.; 7. National Institute of Sciences and Technology (INCT) -Translational Medicine , Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) e Fundo de Amparo à Pesquisa do Estado de São Paulo (FAPESP), , Ribeirao Preto, Brazil. wmjunior@fmrp.usp.br.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Nov 05. Date of Electronic Publication: 2024 Nov 05.
Autor:
Machado DS; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., Viana CF; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Pedroso JL; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Barsottini OGP; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Tomaselli PJ; Department of Neuroscience and Behavioural Sciences, School of Medicine - University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, SP, Brazil., Marques W Jr; Department of Neuroscience and Behavioural Sciences, School of Medicine - University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, SP, Brazil., Rezende TJR; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., França MC Jr; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil. mcfrancajr@uol.com.br.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 1916-1922. Date of Electronic Publication: 2024 Mar 23.
Autor:
Daccach V; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Algemiro JS; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Toscano P; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Dos Santos ACJ; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Frade MAC; Dermatology, Clinical Medicine Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Marques W Jr; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; National Institute of Sciences and Technology-INCT-Translational Medicine-CNPq/FAPESP, São Paulo, Brazil.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Sep; Vol. 29 (3), pp. 356-362. Date of Electronic Publication: 2024 Aug 20.
Autor:
Gonçalves TAP; Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências Comportamentais, Ribeirão Preto SP, Brazil., Tomaselli PJ; Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências Comportamentais, Ribeirão Preto SP, Brazil.
Publikováno v:
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2024 Aug; Vol. 82 (8), pp. 1-2. Date of Electronic Publication: 2024 Jul 08.
Autor:
Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Biomedicine & Prevention, Tor Vergata University of Rome, Rome, Italy., Camaño P; Molecular Diagnostics Platform, Biogipuzkoa Health Research Institute, Hospital Universitario Donostia, San Sebastián, Spain.; CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain., Burton-Jones S; South West Genomics Laboratory Hub, Southmead Hospital, Bristol, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., Magdinier F; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France., van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, The Netherlands., van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, The Netherlands., Bernard R; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Universitaire Timone Adultes, Biogénopôle, Service de Génétique Médicale, Marseille, France., Tomaselli PJ; Department of Neurosciences, Division of Neurology, Ribeirao Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.; Department of Genome Medicine Development, Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan., Oflazer P; Department of Neurology, Koç University Hospital Muscle Center, Koç University Medical Faculty, Istanbul, Turkey., Race V; Clinical Laboratory Geneticist, Human Genetics, UZ Leuven, Leuven, Belgium., Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Williams V; EMQN CIC, Manchester, UK., Sobreira CFR; Department of Neurosciences, Division of Neurology, Ribeirao Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, The Netherlands., Moore SA; Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Roy J. And Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA., Voermans NC; Department of Neurology, Radboud university medical center, Nijmegen, The Netherlands., Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, The Netherlands.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 13-26. Date of Electronic Publication: 2024 Apr 29.
Autor:
Gonçalves TAP; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Donadel CD; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Frezatti RSS; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Garibaldi PMM; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Calado RT; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Marques Junior W; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 161-172. Date of Electronic Publication: 2024 Jun 14.
Autor:
Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil., Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK., Polke JM; UCLH Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, UK., do Nascimento OJM; Neurology Department of Fluminense Federal University (UFF), Rio de Janeiro, Brazil., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Marques Júnior W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil., Laurá M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 May; Vol. 31 (5), pp. e16199. Date of Electronic Publication: 2024 Feb 26.
Autor:
Figueiredo FB; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Hallak J; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; National Institute of Sciences and Technology-INCT-Translational Medicine-CNPq/FAPESP, Ribeirao Preto, Brazil., Mattiello-Sverzut AC; Health Science Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Covaleski APPM; Neurology Department, Federal University of Pernambuco, Recife, Brazil., Sobreira CFDR; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., de Paula Gouvêa S; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Marques W Jr; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; National Institute of Sciences and Technology-INCT-Translational Medicine-CNPq/FAPESP, Ribeirao Preto, Brazil.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Mar; Vol. 29 (1), pp. 97-106. Date of Electronic Publication: 2024 Feb 20.