Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
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Elsevier España
2025-06-01
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| Series: | Neurología |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0213485325000131 |
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| author | R. Ghosh M. León-Ruiz A.S. Mondal S. Dubey J. Benito-León |
| author_facet | R. Ghosh M. León-Ruiz A.S. Mondal S. Dubey J. Benito-León |
| author_sort | R. Ghosh |
| collection | DOAJ |
| format | Article |
| id | doaj-art-ec4bb4ed3f214d3d8dcc47156e29f306 |
| institution | OA Journals |
| issn | 0213-4853 |
| language | Spanish |
| publishDate | 2025-06-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Neurología |
| spelling | doaj-art-ec4bb4ed3f214d3d8dcc47156e29f3062025-08-20T02:23:11ZspaElsevier EspañaNeurología0213-48532025-06-0140548448710.1016/j.nrl.2024.01.003Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variantR. Ghosh0M. León-Ruiz1A.S. Mondal2S. Dubey3J. Benito-León4Department of General Medicine, Burdwan Medical College and Hospital, Burdwan, West Bengal, IndiaSection of Clinical Neurophysiology, Department of Neurology, University Hospital “La Paz”, Madrid, SpainDepartment of Neuromedicine, Bankura Sammilani Medical College and Hospital, Bankura, West Bengal, IndiaDepartment of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, IndiaDepartment of Neurology, University Hospital “12 de Octubre”, Madrid, Spain; Research Institute (i+12), University Hospital “12 de Octubre”, Madrid, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain; Department of Medicine, Complutense University, Madrid, Spain; Corresponding author.http://www.sciencedirect.com/science/article/pii/S0213485325000131 |
| spellingShingle | R. Ghosh M. León-Ruiz A.S. Mondal S. Dubey J. Benito-León Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant Neurología |
| title | Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant |
| title_full | Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant |
| title_fullStr | Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant |
| title_full_unstemmed | Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant |
| title_short | Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant |
| title_sort | cockayne syndrome b with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ercc6 a novel phenotypic and genotypic variant |
| url | http://www.sciencedirect.com/science/article/pii/S0213485325000131 |
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