Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.

Autor: Serrano PL; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil.; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Rodrigues TPV; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Pinto LD; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Pereira IC; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Farias IB; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Cavalheiro RBR; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Mendes PM; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Peixoto KO; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Barile JP; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Seneor DD; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Correa Silva EG; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Oliveira ASB; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Pinto WBVR; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Sgobbi P; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil.; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil.

Publikováno v: Current issues in molecular biology [Curr Issues Mol Biol] 2024 May 05; Vol. 46 (5), pp. 4309-4323. Date of Electronic Publication: 2024 May 05.

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing.

Autor: Souza PVS; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: paulo.sgobbi@unifesp.br., Bortholin T; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Teixeira CAC; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Seneor DD; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Marin VDGB; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Dias RB; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Farias IB; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Badia BML; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Silva LHL; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Pinto WBVR; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Oliveira ASB; Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., DiMauro S; Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Publikováno v: Mitochondrion [Mitochondrion] 2019 Nov; Vol. 49, pp. 25-34. Date of Electronic Publication: 2019 Jul 02.

Perforating palmar disease in TTR-related familial amyloid polyneuropathy.

Autor: Souza PVS; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Bortholin T; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Teixeira CAC; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Seneor DD; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Marin VDGB; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Naylor FGM; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Pinto WBVR; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil., Oliveira ASB; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.

Publikováno v: Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2018 Aug; Vol. 76 (8), pp. 569.