Spinocerebellar ataxia type 48: last but not least
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| Published in | Neurological sciences Vol. 42; no. 4; p. 1577 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
Cham
Springer International Publishing
01.04.2021
Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1590-1874 1590-3478 1590-3478 |
| DOI | 10.1007/s10072-020-04812-9 |
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| Author | Santorelli, Filippo De Michele, Giuseppe |
|---|---|
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33048271$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/gim.2015.30 10.1007/s10072-020-04408-3 10.1007/s10072-018-3545-5 |
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| Copyright | Fondazione Società Italiana di Neurologia 2020 Fondazione Società Italiana di Neurologia 2020. |
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| References | Richards, Aziz, Bale, Bick, Das, Gastier-Foster, Grody, Hegde, Lyon, Spector, Voelkerding, Rehm (CR2) 2015; 17 Gazulla, Izquierdo-Alvarez, Sierra-Martínez, Marta-Moreno, Alvarez (CR1) 2018; 39 De Michele, Galatolo, Barghigiani, Dello Iacovo, Trovato, Tessa, Salvatore, Filla, De Michele, Santorelli (CR3) 2020; 41 J Gazulla (4812_CR1) 2018; 39 G De Michele (4812_CR3) 2020; 41 S Richards (4812_CR2) 2015; 17 30206723 - Neurol Sci. 2018 Dec;39(12):2231-2233 |
| References_xml | – volume: 17 start-page: 405 year: 2015 end-page: 424 ident: CR2 article-title: Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med doi: 10.1038/gim.2015.30 – volume: 41 start-page: 2423 issue: Apr 27 year: 2020 end-page: 2432 ident: CR3 article-title: Spinocerebellar ataxia type 48: last but not least publication-title: Neurol Sci doi: 10.1007/s10072-020-04408-3 – volume: 39 start-page: 2231 year: 2018 end-page: 2233 ident: CR1 article-title: Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16 publication-title: Neurol Sci doi: 10.1007/s10072-018-3545-5 – volume: 39 start-page: 2231 year: 2018 ident: 4812_CR1 publication-title: Neurol Sci doi: 10.1007/s10072-018-3545-5 – volume: 41 start-page: 2423 issue: Apr 27 year: 2020 ident: 4812_CR3 publication-title: Neurol Sci doi: 10.1007/s10072-020-04408-3 – volume: 17 start-page: 405 year: 2015 ident: 4812_CR2 publication-title: Genet Med doi: 10.1038/gim.2015.30 – reference: 30206723 - Neurol Sci. 2018 Dec;39(12):2231-2233 |
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| SubjectTerms | Ataxia Cognitive Dysfunction Humans Late Onset Disorders Letter to the Editor Medicine Medicine & Public Health Neurology Neuroradiology Neurosurgery Psychiatry Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics Ubiquitin-Protein Ligases |
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| Title | Spinocerebellar ataxia type 48: last but not least |
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