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Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136213/ https://www.ncbi.nlm.nih.gov/pubmed/30208948 http://dx.doi.org/10.1186/s40478-018-0595-0 |
| _version_ | 1783354954460692480 |
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| author | Garibaldi, Matteo Fattori, Fabiana Bortolotti, Carlo Augusto Brochier, Guy Labasse, Clemence Verardo, Margherita Servian-Morilla, Emilia Gibellini, Lara Pinti, Marcello Di Rocco, Giulia Raffa, Salvatore Pennisi, Elena Maria Bertini, Enrico Silvio Paradas, Carmen Romero, Norma Beatriz Antonini, Giovanni |
| author_facet | Garibaldi, Matteo Fattori, Fabiana Bortolotti, Carlo Augusto Brochier, Guy Labasse, Clemence Verardo, Margherita Servian-Morilla, Emilia Gibellini, Lara Pinti, Marcello Di Rocco, Giulia Raffa, Salvatore Pennisi, Elena Maria Bertini, Enrico Silvio Paradas, Carmen Romero, Norma Beatriz Antonini, Giovanni |
| author_sort | Garibaldi, Matteo |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6136213 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61362132018-09-15 Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD Garibaldi, Matteo Fattori, Fabiana Bortolotti, Carlo Augusto Brochier, Guy Labasse, Clemence Verardo, Margherita Servian-Morilla, Emilia Gibellini, Lara Pinti, Marcello Di Rocco, Giulia Raffa, Salvatore Pennisi, Elena Maria Bertini, Enrico Silvio Paradas, Carmen Romero, Norma Beatriz Antonini, Giovanni Acta Neuropathol Commun Letter to the Editor BioMed Central 2018-09-13 /pmc/articles/PMC6136213/ /pubmed/30208948 http://dx.doi.org/10.1186/s40478-018-0595-0 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| spellingShingle | Letter to the Editor Garibaldi, Matteo Fattori, Fabiana Bortolotti, Carlo Augusto Brochier, Guy Labasse, Clemence Verardo, Margherita Servian-Morilla, Emilia Gibellini, Lara Pinti, Marcello Di Rocco, Giulia Raffa, Salvatore Pennisi, Elena Maria Bertini, Enrico Silvio Paradas, Carmen Romero, Norma Beatriz Antonini, Giovanni Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title_full | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title_fullStr | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title_full_unstemmed | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title_short | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
| title_sort | core-rod myopathy due to a novel mutation in btb/poz domain of kbtbd13 manifesting as late onset lgmd |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136213/ https://www.ncbi.nlm.nih.gov/pubmed/30208948 http://dx.doi.org/10.1186/s40478-018-0595-0 |
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