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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571496/ https://www.ncbi.nlm.nih.gov/pubmed/32428197 http://dx.doi.org/10.1093/brain/awaa122 |
| _version_ | 1783597181317414912 |
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| author | Eidhof, Ilse Baets, Jonathan Kamsteeg, Erik-Jan Schenck, Annette van de Warrenburg, Bart P |
| author_facet | Eidhof, Ilse Baets, Jonathan Kamsteeg, Erik-Jan Schenck, Annette van de Warrenburg, Bart P |
| author_sort | Eidhof, Ilse |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7571496 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-75714962020-10-28 Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family Eidhof, Ilse Baets, Jonathan Kamsteeg, Erik-Jan Schenck, Annette van de Warrenburg, Bart P Brain Letters to the Editor Oxford University Press 2020-06 2020-05-18 /pmc/articles/PMC7571496/ /pubmed/32428197 http://dx.doi.org/10.1093/brain/awaa122 Text en © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
| spellingShingle | Letters to the Editor Eidhof, Ilse Baets, Jonathan Kamsteeg, Erik-Jan Schenck, Annette van de Warrenburg, Bart P Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title | Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title_full | Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title_fullStr | Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title_full_unstemmed | Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title_short | Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family |
| title_sort | reply: a homozygous gdap2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and novel gdap2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (scar27) in a chinese family |
| topic | Letters to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571496/ https://www.ncbi.nlm.nih.gov/pubmed/32428197 http://dx.doi.org/10.1093/brain/awaa122 |
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