Publications by authors named "Edmar Zanoteli"

97Publications

Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen.

J Neuromuscul Dis 2021 Jan 11. Epub 2021 Jan 11.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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January 2021

Child Neurology: A case of FHL1-related disease presenting as inflammatory myopathy.

Neurology 2020 Dec 23. Epub 2020 Dec 23.

Department of Neurology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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December 2020

Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.

Neuromuscul Disord 2020 11 14;30(11):897-903. Epub 2020 Oct 14.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Dr. Enéas Carvalho Aguiar 255, 05403-900 São Paulo SP, Brazil. Electronic address:

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November 2020

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.

Acta Neuropathol Commun 2020 Oct 19;8(1):167. Epub 2020 Oct 19.

Centre of Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK.

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October 2020

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.

Neurol Genet 2020 Oct 4;6(5):e513. Epub 2020 Sep 4.

Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.

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October 2020

Intragenic variants in the gene determine the clinical phenotype in 5q spinal muscular atrophy.

Neurol Genet 2020 Oct 1;6(5):e505. Epub 2020 Sep 1.

Department of Neurology (R.H.M., C.M., G.J.P., A.M.S.S., D.J.F.S., F.K., U.C.R., E.Z.); Department of Pathology (L.K., A.T.D., E.A.Z.), Faculdade de Medicina da Universidade de São Paulo (FMUSP); Departamento de Pediatria e Neuropediatria (J.G.-G., A.C.M.L.M., G.P.C.S.), Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte; Departamento de Neurologia - UNIFESP (A.S.B.O., P.V.S.S., W.B.V.R.P., E.A.G., I.B.F.), São Paulo; Departamento de Pediatria, Seção de Neurologia Infantil - UFRJ (F.N., A.P.Q.C.A.), Rio de Janeiro; Departamento de Neurologia (W.M., P.J.T.), FMUSP-RP, Ribeirao Preto; Mendelics Análise Genômica (M.D.O.R., J.P.K., F.P.M., F.K.), São Paulo; Serviço de Neurologia (J.A.M.S.), Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre; Unidade de Neurologia Infantil (M.M.B.), Hospital de Clinicas de Porto Alegre; Serviço de Genética Médica (J.A.M.S., M.L.S.-P., A.C.B.-F.), Hospital de Clinicas de Porto Alegre; UFRGS, Porto Alegre; Departamento de Bioquímica - UFRGS (M.L.S.-P.), Porto Alegre; Hospital Maria Lucinda (V.L., R.N.F.), Recife; Hospital Infantil Joao Paulo II (A.V.S.B.), Fundação Hospitalar de Minas Gerais, Belo Horizonte; Escola Bahiana de Medicina e Saúde Pública (M.C.M.-C.), Salvador; Hospital Infantil Albert Sabin (A.L.S.P.), Universidade Estadual do Ceará, Fortaleza; and Departamento de Neurologia (L.S.S., M.C.F.), Unicamp, Campinas, Brazil.

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October 2020

STIR and diffusion-weighted MRI in asymptomatic hyperCKemia caused by ANO5-related myopathy.

Arq Neuropsiquiatr 2020 09;78(9):596

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.

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September 2020

Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

Pract Neurol 2020 May 17;20(3):253-255. Epub 2020 Mar 17.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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May 2020

Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.

Neuromuscul Disord 2020 01 7;30(1):54-58. Epub 2019 Nov 7.

Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil. Electronic address:

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January 2020

Cognitive performance of children with spinal muscular atrophy: A systematic review.

Dement Neuropsychol 2019 Oct-Dec;13(4):436-443

Programa de Pós-Graduação em Ciências da Reabilitação, Faculdade de Medicina, Universidade de São Paulo, SP, Brasil.

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December 2019

The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention.

Neurourol Urodyn 2020 02 3;39(2):576-585. Epub 2019 Dec 3.

Department of Gynecology, Sector of Urogynecology and Vaginal Surgery, Universidade Federal de São Paulo, São Paulo, Brazil.

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February 2020

Severe brain involvement in 5q spinal muscular atrophy type 0.

Ann Neurol 2019 09 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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September 2019