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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665968/ https://www.ncbi.nlm.nih.gov/pubmed/33015733 http://dx.doi.org/10.1007/s00401-020-02223-w |
| _version_ | 1783610061868761088 |
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| author | García-Cazorla, Àngels Verdura, Edgard Juliá-Palacios, Natalia Anderson, Eric N. Goicoechea, Leire Planas-Serra, Laura Tsogtbaatar, Enkhtuul Dsouza, Nikita R. Schlüter, Agatha Urreizti, Roser Tarnowski, Jessica M. Gavrilova, Ralitza H. Ruiz, Montserrat Rodríguez-Palmero, Agustí Fourcade, Stéphane Cogné, Benjamin Besnard, Thomas Vincent, Marie Bézieau, Stéphane Folmes, Clifford D. Zimmermann, Michael T. Klee, Eric W. Pandey, Udai Bhan Artuch, Rafael Cousin, Margot A. Pujol, Aurora |
| author_facet | García-Cazorla, Àngels Verdura, Edgard Juliá-Palacios, Natalia Anderson, Eric N. Goicoechea, Leire Planas-Serra, Laura Tsogtbaatar, Enkhtuul Dsouza, Nikita R. Schlüter, Agatha Urreizti, Roser Tarnowski, Jessica M. Gavrilova, Ralitza H. Ruiz, Montserrat Rodríguez-Palmero, Agustí Fourcade, Stéphane Cogné, Benjamin Besnard, Thomas Vincent, Marie Bézieau, Stéphane Folmes, Clifford D. Zimmermann, Michael T. Klee, Eric W. Pandey, Udai Bhan Artuch, Rafael Cousin, Margot A. Pujol, Aurora |
| author_sort | García-Cazorla, Àngels |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7665968 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Springer Berlin Heidelberg |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-76659682020-11-17 Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome García-Cazorla, Àngels Verdura, Edgard Juliá-Palacios, Natalia Anderson, Eric N. Goicoechea, Leire Planas-Serra, Laura Tsogtbaatar, Enkhtuul Dsouza, Nikita R. Schlüter, Agatha Urreizti, Roser Tarnowski, Jessica M. Gavrilova, Ralitza H. Ruiz, Montserrat Rodríguez-Palmero, Agustí Fourcade, Stéphane Cogné, Benjamin Besnard, Thomas Vincent, Marie Bézieau, Stéphane Folmes, Clifford D. Zimmermann, Michael T. Klee, Eric W. Pandey, Udai Bhan Artuch, Rafael Cousin, Margot A. Pujol, Aurora Acta Neuropathol Correspondence Springer Berlin Heidelberg 2020-10-05 2020 /pmc/articles/PMC7665968/ /pubmed/33015733 http://dx.doi.org/10.1007/s00401-020-02223-w Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Correspondence García-Cazorla, Àngels Verdura, Edgard Juliá-Palacios, Natalia Anderson, Eric N. Goicoechea, Leire Planas-Serra, Laura Tsogtbaatar, Enkhtuul Dsouza, Nikita R. Schlüter, Agatha Urreizti, Roser Tarnowski, Jessica M. Gavrilova, Ralitza H. Ruiz, Montserrat Rodríguez-Palmero, Agustí Fourcade, Stéphane Cogné, Benjamin Besnard, Thomas Vincent, Marie Bézieau, Stéphane Folmes, Clifford D. Zimmermann, Michael T. Klee, Eric W. Pandey, Udai Bhan Artuch, Rafael Cousin, Margot A. Pujol, Aurora Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title_full | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title_fullStr | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title_full_unstemmed | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title_short | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
| title_sort | impairment of the mitochondrial one-carbon metabolism enzyme shmt2 causes a novel brain and heart developmental syndrome |
| topic | Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665968/ https://www.ncbi.nlm.nih.gov/pubmed/33015733 http://dx.doi.org/10.1007/s00401-020-02223-w |
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