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Works (12)

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates

Journal of Neuropathology & Experimental Neurology
2022-08-16 | Journal article
Contributors: André Macedo Serafim Silva; Patricia Rodrigo; Cristiane Araújo Martins Moreno; Rodrigo de Holanda Mendonça; Eduardo de Paula Estephan; Clara Gontijo Camelo; Eliene Dutra Campos; Alexandre Torchio Dias; Amom Mendes Nascimento; Leslie Domenici Kulikowski et al.
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Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders

Arquivos de Neuro-Psiquiatria
2022-06 | Journal article
Contributors: Cristiane Araujo Martins Moreno; Clara Gontijo Camelo; Pedro Henrique Marte de Arruda Sampaio; Alulin Tácio Quadros Santos Monteiro Fonseca; Eduardo de Paula Estephan; André Macedo Serafim Silva; Renann Nunes Pirola; Luiz Henrique Libardi Silva; Karlla Danielle Ferreira Lima; Marco Antônio Veloso de Albuquerque et al.
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Inflammatory myopathies: an update for neurologists

Arquivos de Neuro-Psiquiatria
2022-05 | Journal article
Contributors: André Macedo Serafim Silva; Eliene Dutra Campos; Edmar Zanoteli
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Brachio-cervical inflammatory myopathy associated with systemic sclerosis. Case series and review of literature

Reumatismo
2021-08-03 | Journal article
Contributors: C.S.R. Araujo; R. Miossi; F.H.C. De Souza; M.D. Costa; A.M.S. Da Silva; E.D. Campos; E. Zanoteli; S.K. Shinjo
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Severe progressive brain involvement in a patient with TRMT10C mutation

Arquivos de Neuro-Psiquiatria
2021-03 | Journal article
Contributors: Clara Gontijo CAMELO; André Macedo Serafim SILVA; Antônio José ROCHA; Vinicius SCARAMUZZI; Cristiane de Araújo Martins MORENO; Umbertina Conti REED; Edmar ZANOTELI
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Child Neurology: A Case of FHL1 -Related Disease Presenting as Inflammatory Myopathy

Neurology
2021-03-02 | Journal article
Contributors: André Macedo Serafim Silva; Clara Gontijo Camelo; Ciro Matsui-Júnior; Rodrigo de Holanda Mendonça; Lúcia Maria Campos; Adriana Maluf Elias; Clovis Artur Silva; Umbertina Conti Reed; Edmar Zanoteli
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Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery

Arquivos de Neuro-Psiquiatria
2021-02 | Journal article
Contributors: Rodrigo de Holanda Mendonça; Hermann dos Santos Fernandes; Rafael Barbéro Schimmelpfeng Pinto; Ciro Matsui Júnior; Graziela Jorge Polido; André Macedo Serafim da Silva; Luis Fernando Grossklauss; Umbertina Conti Reed; Edmar Zanoteli
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STIR and diffusion-weighted MRI in asymptomatic hyperCKemia caused by ANO5-related myopathy

Arquivos de Neuro-Psiquiatria
2020-09-29 | Journal article
Contributors: André Macedo Serafim SILVA; Júlio Brandão GUIMARÃES; Flávia Costa Nunes MACHADO; Edmar ZANOTELI
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Reply to “Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0”

Annals of Neurology
2019-11 | Journal article
Contributors: Rodrigo H. Mendonça; Antônio J. Rocha; Andres Lozano‐Arango; Astry B. Diaz; Claudia Castiglioni; André M. S. Silva; Umbertina C. Reed; Leslie Kulikowski; Ida Paramonov; Ivon Cuscó et al.
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Severe brain involvement in 5q spinal muscular atrophy type 0

Annals of Neurology
2019-09 | Journal article
Contributors: Rodrigo H. Mendonça; Antônio J. Rocha; Andres Lozano‐Arango; Astry B. Diaz; Claudia Castiglioni; André M. S. Silva; Umbertina C. Reed; Leslie Kulikowski; Ida Paramonov; Ivon Cuscó et al.
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Clinical and molecular findings in a cohort of ANO5‐related myopathy

Annals of Clinical and Translational Neurology
2019-07 | Journal article
Contributors: André M. S. Silva; Antônio R. Coimbra-Neto; Paulo Victor S. Souza; Pablo B. Winckler; Marcus V. M. Gonçalves; Eduardo B. U. Cavalcanti; Alzira A. D. S. Carvalho; Cláudia F. D. R. Sobreira; Clara G. Camelo; Rodrigo D. H. Mendonça et al.
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Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy

Arquivos de Neuro-Psiquiatria
2019-02 | Journal article
Contributors: André Macedo Serafim da Silva; Wagner Cid Palmeira Cavalcante; Clara Gontijo Camelo; Rodrigo de Holanda Mendonça; Ida Fortini; Mary Souza de Carvalho; Edmar Zanoteli
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