Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.

Autor: Fussiger H; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Lima PLGSB; Faculty of Medicine, Federal University of Ceara, Fortaleza, Brazil., Souza PVS; Neurometabolic Unit, Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Freua F; Clinics Hospital, Faculty of Medicine, University of Sao Paulo, São Paulo, Brazil.; Neurology Department, Beneficência Portuguesa Hospital, São Paulo, Brazil., Husny ASE; Hospital Universitário Bettina Ferro de Souza, Universidade Federal do Pará, Belém, Brazil., Leão EKEA; University Hospital Complex Prof. Edgard Santos, Universidade Federal da Bahia, Salvador, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil.; Center of Health Sciences, State University of Ceara, Fortaleza, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, School of Medicine of Universidade de São Paulo, São Paulo, Brazil., Lynch DS; Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK.; The Leonard Wolfson Experimental Neurology Centre, National Hospital for Neurology & Neurosurgery, London, UK., Saute JAM; 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.; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Nóbrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil.; Campus Parque Ecológico, Centro Universitário Christus, Fortaleza, Brazil.

Publikováno v: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 721-732. Date of Electronic Publication: 2024 Aug 05.

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.

Autor: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil., Bernardes AM; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Ribeiro RM; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Vasconcelos SC; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Araújo DABS; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Gama VCV; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Fussiger H; School of Medicine, Universidade Federação de Estabelecimentos de Ensino Superior em Novo Hamburgo, Novo Hamburgo, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Santos CF; Pediatric Neurology, Universidade de Fortaleza, Fortaleza, Brazil.; Hospital Infantil Albert Sabin, Fortaleza, Brazil., Dias DA; Division of Radiology, Federal University of Ceará, Fortaleza, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Center of Health Science, Universidade Estadual do Ceará, Fortaleza, Brazil., Pinto WBVR; Neurometabolic Unit, Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Saute JAM; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service and Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., de Souza PVS; Neurometabolic Unit, Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Braga-Neto P; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Center of Health Science, Universidade Estadual do Ceará, Fortaleza, Brazil.

Publikováno v: Frontiers in neurology [Front Neurol] 2022 Dec 23; Vol. 13, pp. 1049850. Date of Electronic Publication: 2022 Dec 23 (Print Publication: 2022).

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Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Autor: Giordani GM; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Neurogenetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Diniz F; Graduate Program in Medical Physiopathology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Fussiger H; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Neurogenetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Gonzalez-Salazar C; Graduate Program in Medical Physiopathology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Donis KC; Neurogenetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil., Freua F; Departamento de Neurologia, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, Brazil., Ortega RPM; Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil., de Freitas JL; Department of Neurology, Ataxia Unit Universidade Federal de São Paulo, São Paulo, Brazil., Barsottini OGP; Department of Neurology, Ataxia Unit Universidade Federal de São Paulo, São Paulo, Brazil., Rosemberg S; Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil.; Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil., Kok F; Departamento de Neurologia, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, Brazil., Pedroso JL; Department of Neurology, Ataxia Unit Universidade Federal de São Paulo, São Paulo, Brazil., França MC Jr; Graduate Program in Medical Physiopathology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Saute JAM; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. jsaute@hcpa.edu.br.; Neurogenetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. jsaute@hcpa.edu.br.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil. jsaute@hcpa.edu.br.; Neurology Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. jsaute@hcpa.edu.br.; Internal Medicine Department, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. jsaute@hcpa.edu.br.

Publikováno v: Scientific reports [Sci Rep] 2021 Nov 15; Vol. 11 (1), pp. 22248. Date of Electronic Publication: 2021 Nov 15.

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.

Autor: Fussiger H; Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400, sala 220, Porto Alegre, 90035-003, Brazil., Saraiva-Pereira ML; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Prédio Anexo, Porto Alegre, 90035-003, Brazil.; Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil., Leistner-Segal S; Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400, sala 220, Porto Alegre, 90035-003, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil., Jardim LB; Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400, sala 220, Porto Alegre, 90035-003, Brazil. ljardim@hcpa.edu.br.; Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil. ljardim@hcpa.edu.br.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil. ljardim@hcpa.edu.br.; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil. ljardim@hcpa.edu.br.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2019 Feb; Vol. 18 (1), pp. 147-151.