A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care
Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2024-12-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1792096 |
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| author | Rodrigo Holanda Mendonça Juliane Suellen Arndt de Godoi Edmar Zanoteli |
| author_facet | Rodrigo Holanda Mendonça Juliane Suellen Arndt de Godoi Edmar Zanoteli |
| author_sort | Rodrigo Holanda Mendonça |
| collection | DOAJ |
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Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene. |
| format | Article |
| id | doaj-art-d6f90d7d2dd847eebacb73c2490b9da0 |
| institution | OA Journals |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-d6f90d7d2dd847eebacb73c2490b9da02025-08-20T02:04:01ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272024-12-01821200100910.1055/s-0044-1792096A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary careRodrigo Holanda Mendonça0https://orcid.org/0000-0001-7520-3353Juliane Suellen Arndt de Godoi1https://orcid.org/0009-0001-1817-8021Edmar Zanoteli2https://orcid.org/0000-0002-4991-6760Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.Instituto Nacional da Atrofia Muscular Espinhal, São Paulo SP, Brazil.Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil. Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1792096Muscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinNatural HistoryRegistriesAtrofia Muscular EspinalProteína 1 de Sobrevivência do Neurônio MotorHistória NaturalSistema de Registros |
| spellingShingle | Rodrigo Holanda Mendonça Juliane Suellen Arndt de Godoi Edmar Zanoteli A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care Arquivos de Neuro-Psiquiatria Muscular Atrophy, Spinal Survival of Motor Neuron 1 Protein Natural History Registries Atrofia Muscular Espinal Proteína 1 de Sobrevivência do Neurônio Motor História Natural Sistema de Registros |
| title | A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care |
| title_full | A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care |
| title_fullStr | A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care |
| title_full_unstemmed | A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care |
| title_short | A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care |
| title_sort | self reported brazilian registry of 5q spinal muscular atrophy data on natural history genetic characteristics and multidisciplinary care |
| topic | Muscular Atrophy, Spinal Survival of Motor Neuron 1 Protein Natural History Registries Atrofia Muscular Espinal Proteína 1 de Sobrevivência do Neurônio Motor História Natural Sistema de Registros |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1792096 |
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