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ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860906/ https://www.ncbi.nlm.nih.gov/pubmed/29564393 http://dx.doi.org/10.1212/NXG.0000000000000225 |
| _version_ | 1783308010309812224 |
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| author | Marelli, Cecilia Hamel, Christian Quiles, Melanie Carlander, Bertrand Larrieu, Lise Delettre, Cecile Sarzi, Emmanuelle Chretien, Dominique Rustin, Pierre Koenig, Michel Guissart, Claire |
| author_facet | Marelli, Cecilia Hamel, Christian Quiles, Melanie Carlander, Bertrand Larrieu, Lise Delettre, Cecile Sarzi, Emmanuelle Chretien, Dominique Rustin, Pierre Koenig, Michel Guissart, Claire |
| author_sort | Marelli, Cecilia |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5860906 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-58609062018-03-21 ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia Marelli, Cecilia Hamel, Christian Quiles, Melanie Carlander, Bertrand Larrieu, Lise Delettre, Cecile Sarzi, Emmanuelle Chretien, Dominique Rustin, Pierre Koenig, Michel Guissart, Claire Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-03-20 /pmc/articles/PMC5860906/ /pubmed/29564393 http://dx.doi.org/10.1212/NXG.0000000000000225 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Marelli, Cecilia Hamel, Christian Quiles, Melanie Carlander, Bertrand Larrieu, Lise Delettre, Cecile Sarzi, Emmanuelle Chretien, Dominique Rustin, Pierre Koenig, Michel Guissart, Claire ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title | ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title_full | ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title_fullStr | ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title_full_unstemmed | ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title_short | ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia |
| title_sort | aco2 mutations: a novel phenotype associating severe optic atrophy and spastic paraplegia |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860906/ https://www.ncbi.nlm.nih.gov/pubmed/29564393 http://dx.doi.org/10.1212/NXG.0000000000000225 |
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