Researcher profile · Semantic Scholar

E. P. Estephan

h-index: 9
Works: 35
Citations: 280

Most-cited papers

Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes
A. E. Camelo-filho, A. M. Serafim da Silva, E. P. Estephan, A. Zambon +8 more
2020Frontiers in Neurology84 citations Open access
Semantic Scholar
Clinical and molecular findings in a cohort of ANO5‐related myopathy
A. M. Serafim da Silva, A. R. Coimbra-Neto, P. Souza, P. B. Winckler +26 more
2019Annals of Clinical and Translational Neurology38 citations Open access
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Myasthenia gravis in clinical practice
E. P. Estephan, J. P. Baima, A. Zambon
2022Arquivos de Neuro-Psiquiatria36 citations Open access
Semantic Scholar
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis
E. P. Estephan, A. Zambon, R. Thompson, K. Polavarapu +11 more
2021European Journal of Neurology24 citations
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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
E. P. Estephan, Cláudia Ferreira da Rosa Sobreira, A. C. Santos, P. Tomaselli +15 more
2018Journal of Neurology17 citations Open access
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Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.
V. Caldas, C. Heise, J. Kouyoumdjian, A. Zambon +3 more
2020Neuromuscular Disorders16 citations
Semantic Scholar
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
E. P. Estephan, A. Zambon, P. Marchiori, A. M. Serafim da Silva +7 more
2018Neuromuscular Disorders15 citations Open access
Semantic Scholar
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy.
A. M. Serafim da Silva, Rodrigo de Holanda Mendonça, C. Moreno, E. P. Estephan +3 more
2017Neuromuscular Disorders11 citations
Semantic Scholar
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
O. Abath, C. Heise, Cristiane de Araújo Martins Moreno, E. P. Estephan +9 more
2016Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques11 citations Open access
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Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
C. Moreno, E. P. Estephan, Alan Fappi, S. Monges +7 more
2019Neuromuscular Disorders8 citations
Semantic Scholar
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
A. M. Serafim da Silva, Patricia Rodrigo, C. Moreno, Rodrigo de Holanda Mendonça +11 more
2022Journal of Neuropathology and Experimental Neurology7 citations
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Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis
Ronnyson Susano Grativvol, A. M. Serafim da Silva, B. Guedes, E. P. Estephan +4 more
2016Arquivos de Neuro-Psiquiatria4 citations Open access
Semantic Scholar
Myasthenia Gravis Related to Thymic Carcinoma: A Case Study
Daniel Thomas Pereira Lopes, S. P. Gomes, S. A. Siqueira, F. Frassetto +4 more
2020The Thoracic & Cardiovascular Surgeon Reports3 citations Open access
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Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders
C. Moreno, C. Camelo, Pedro Henrique Marte de Arruda Sampaio, Alulin Tácio Quadros Santos Monteiro Fonseca +17 more
2021Arquivos de Neuro-Psiquiatria2 citations Open access
Semantic Scholar
Teaching Video NeuroImage: Reflex Facilitation in Lambert-Eaton Myasthenic Syndrome
A. E. Camelo-filho, E. P. Estephan, C. Heise, E. Zanoteli
2021Neurology2 citations Open access
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Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
E. P. Estephan, C. Moreno, A. M. Serafim da Silva, Rodrigo de Holanda Mendonça +4 more
2016Arquivos de Neuro-Psiquiatria1 citations Open access
Semantic Scholar
Surgical treatment of myasthenia gravis: 10 years of single center experience
José de Sá Moraes Neto, J. Fonini, Francisco De Assis Cavalcanti Neto, Fernanda Aquino de Oliveira +6 more
2025Frontiers in Neurology0 citations Open access
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Refractory myasthenic crisis successfully treated with rituximab followed by cyclophosphamide: a case report
Gabriel Keller, Eduardo Macedo de Souza Tieppo, A. Zambon, Beatriz C Silva +1 more
2025São Paulo Medical Journal0 citations
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Case report: bilateral cerebellar infarction secondary to calcium pyrophosphate arthropathy of the atlantoaxial joint
Lucas Henrique de Moura Rogerio Garcia, Rodrigo Junqueira Rochinha, José Eduardo Mourão Morais, E. P. Estephan +3 more
2025São Paulo Medical Journal0 citations
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Different types of myasthenic syndromes in a tertiary neuromuscular center
E. P. Estephan, Beatriz C Silva, M. Costa, R. Paolilo +2 more
2025São Paulo Medical Journal0 citations
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Clinical and epidemiological aspects of patients with myasthenia gravis in a tertiary center
Beatriz C Silva, E. P. Estephan, A. Pouza, A. M. Serafim da Silva +3 more
2024Arquivos de Neuro-Psiquiatria0 citations Open access
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Atypical presentations of MUSK-congenital myasthenia syndrome
Henrique Alves Bezerra, Nicole Lopes Cavalcante Machado, E. P. Estephan, Maria Sheila Guimarães Rocha +5 more
2024Arquivos de Neuro-Psiquiatria0 citations Open access
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Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort
C. Moreno, M. Artilheiro, A. M. Serafim da Silva, Alulin Tácio Quadros Santos Monteiro Fonseca +6 more
2024Arquivos de Neuro-Psiquiatria0 citations Open access
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534P Clinical and genetic characterization of Brazilian patients with TK2 deficiency
C. Moreno, A. Fonseca, M. Artilheiro, A. M. Serafim da Silva +16 more
2024Neuromuscular Disorders0 citations Open access
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Rapsyn-associated congenital myasthenic syndrome: distinctive phenotype mimicking limb-girdle dystrophy
Gabriella Corrêa Dousseau, Mariana Hiromi Manoel Oku, Gabriel Saboia Araújo Torres, Filipe Tupinambá Di Pace +5 more
2024Arquivos de Neuro-Psiquiatria0 citations Open access
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Poorer prognosis and higher chance of death in Guillain-Barré syndrome associated to COVID-19: a cohort study
Gabriella Corrêa Dousseau, Isabel de Oliveira Santos, Caroline Suemi Ogusuku, Lorrane Campidelli Arthuzo +4 more
2023São Paulo Medical Journal0 citations Open access
Semantic Scholar
Charcot-Marie-Tooth type 1F with bi-allelic NEFL mutation
Elaine Calumby Teixeira, Camila Rodrigues Nepomuceno, M. S. Rocha, E. P. Estephan
2023São Paulo Medical Journal0 citations Open access
Semantic Scholar
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
P. Rodríguez-Cruz, J. Cossins, E. P. Estephan, F. Munell +29 more
20190 citations
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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
E. P. Estephan, A. Zambon, P. Marchiori, A. Silva +5 more
2018Neuromuscular Disorders0 citations
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CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
C. Moreno, E. P. Estephan, O. Neto, C. Camelo +4 more
2018Neuromuscular Disorders0 citations
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CMT AND NEUROGENIC DISEASE
E. P. Estephan, P. Sampaio, F. Souza, M. Rocha +2 more
2018Neuromuscular Disorders0 citations
Semantic Scholar
A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndrome
E. P. Estephan, A. M. Serafim da Silva, Rodrigo de Holanda Mendonça, V. Caldas +5 more
20170 citations
Semantic Scholar
Pseudotumorcerebri in systemic lupus erythematous activity (P1.189)
H. Yacoub, E. P. Estephan, Ida Fortini, Ricardo Nitrini
2017Neurology0 citations
Semantic Scholar
Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy
A. M. Serafim da Silva, E. P. Estephan, C. Moreno, R. Mendonça +5 more
20160 citations
Semantic Scholar
Nemaline myopathy related to HIV infection with a good response to immunosuppression
A. M. Serafim da Silva, R. Mendonça, E. P. Estephan, C. Moreno +2 more
20160 citations
Semantic Scholar

U. Reed

×10

Rodrigo de Holanda Mendonça×9

C. Heise×6

E. Zanoteli×6

A. Töpf×5

C. Camelo×4

V. Caldas×4

P. Marchiori×4