Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.
Autorzy:
LorenzoniPJ; 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. Bayer DL; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil. Ducci RD; 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. do Vale Pascoal Rodrigues PR; 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. Kay CSK; 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.
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
Autorzy:
LorenzoniPJ; 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. Kay CSK; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil. Ducci RD; 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. 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.
Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil.
Autorzy:
Trilico MLC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil, and. LorenzoniPJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Kay CSK; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Ducci RDP; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Fustes OJH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Werneck LC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Scola RH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil.
Shen XM; Department of Neurology and Muscle Research Laboratory Mayo Clinic Rochester Minnesota 55905. Scola RH; Service of Neuromuscular Disorders Division of Neurology of Hospital de Clínicas (UFPR) Curitiba 80060-900 Brazil. LorenzoniPJ; Service of Neuromuscular Disorders Division of Neurology of Hospital de Clínicas (UFPR) Curitiba 80060-900 Brazil. Kay CS; Service of Neuromuscular Disorders Division of Neurology of Hospital de Clínicas (UFPR) Curitiba 80060-900 Brazil. Werneck LC; Service of Neuromuscular Disorders Division of Neurology of Hospital de Clínicas (UFPR) Curitiba 80060-900 Brazil. Brengman J; Department of Neurology and Muscle Research Laboratory Mayo Clinic Rochester Minnesota 55905. Selcen D; Department of Neurology and Muscle Research Laboratory Mayo Clinic Rochester Minnesota 55905. Engel AG; Department of Neurology and Muscle Research Laboratory Mayo Clinic Rochester Minnesota 55905.
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Autorzy:
Scalco RS; MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom.; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul (PUCRS), Porto Alegre, Brazil.; Capes Foundation, Ministry of Education, Brasilia, Brazil. LorenzoniPJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Universidade Federal do Paraná (UFPR), Curitiba, Brazil. Lynch DS; MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom. Martins WA; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul (PUCRS), Porto Alegre, Brazil. Jungbluth H; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London (KCL), London, United Kingdom.; Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom.; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, United Kingdom. Quinlivan R; MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom. Becker J; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul (PUCRS), Porto Alegre, Brazil. Houlden H; MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom.
Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil.
Autorzy:
LorenzoniPJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil. Kay CS; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil. Cavalet C; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil. Arndt RC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil. Werneck LC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil. Scola RH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR) , Curitiba, Brazil.
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Źródło:
Neurology international [Neurol Int] 2016 Sep 30; Vol. 8 (3), pp. 6677. Date of Electronic Publication: 2016 Sep 30 (Print Publication: 2016).
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