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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Gaviraghi T; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Cavalcanti EBU; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., Lorenzoni PJ; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Cotta A; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., de Souza PVS; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., de Oliveira AD; Neurology Division, Hospital Universitário Polydoro Ernani de São Thiago, Florianópolis, Brazil., de Moraes MT; Neurology and Neurophysiology Division, Instituto de Neurologia de Curitiba/Hospital-Ecoville, Curitiba, Brazil., Marques MVO; Neurology Division, Centro Integrado de Saúde, São Paulo, Brazil., Donis KC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Winckler PB; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Costa E Silva C; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., Pinto WBVR; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., Kay CSK; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Ducci RD; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Rodrigues PRVP; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Fustes OJH; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., da Silva AMS; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., França MC Jr; Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Graduate Program in Medical Physiopathology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Sobreira CFR; Department of Neurosciences, Ribeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, Brazil., Oliveira ASB; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., Carvalho EHT; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., Scola RH; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Carvalho AAS; Centro Universitário Saúde ABC, Santo André, Brazil., Saute JAM; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 644-649. Date of Electronic Publication: 2024 Jul 17.
Autor:
Lorenzoni PJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br., Filla L; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Dal-Prá Ducci R; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Fustes OJH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Raquel do Vale Pascoal Rodrigues P; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Arndt RC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Suemi Kamoi Kay C; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Werneck LC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil., Scola RH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Oct 31. Date of Electronic Publication: 2024 Oct 31.
Autor:
Lorenzoni PJ; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Kay CSK; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Ducci RD; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Fustes OJH; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Rodrigues PRDVP; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Arndt RC; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Scola RH; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil., Werneck LC; Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.
Publikováno v:
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2024 Feb; Vol. 82 (2), pp. 1-4. Date of Electronic Publication: 2024 Feb 23.
Autor:
Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Sunitha B; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge CB2 0SP, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, Neurofoundation, Salem, Tamil Nadu 636009, India., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Bardhan M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Sanka SB; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Huddar A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, St Johns Medical College Hospital, Bangalore 560034, India., Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.; Department of Neurology, Amruta Institute of Medical Sciences, Kochi 682041, India., Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, India., Girija MS; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Porter A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Azuma Y; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Lorenzoni PJ; Neuromuscular Disorders Division, Service of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná, Rua General Carneiro, Curitiba - PR 80060-900, Brazil., Baskar D; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Anjanappa RM; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Keertipriya M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Padmanabh H; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Harikrishna GV; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Laurie S; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain., Matalonga L; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain., Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge CB2 0SP, UK., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia 08028, Spain.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8M5, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jan 04; Vol. 147 (1), pp. 281-296.