Advances in the understanding of hereditary ataxia – implications for future patients
| Autor: | Suran Nethisinghe, Anna Zeitlberger, Paola Giunti, Heather Ging |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Congenital cerebellar ataxia business.industry Health Policy Computational biology medicine.disease humanities Novel gene 03 medical and health sciences Hereditary Ataxias 030104 developmental biology 0302 clinical medicine Hereditary ataxia Gene panel Anticipation (genetics) medicine Spinocerebellar ataxia Pharmacology (medical) business Pharmacology Toxicology and Pharmaceutics (miscellaneous) Machado–Joseph disease 030217 neurology & neurosurgery |
| Zdroj: | Expert Opinion on Orphan Drugs. 6:203-217 |
| ISSN: | 2167-8707 |
| DOI: | 10.1080/21678707.2018.1444477 |
| Popis: | Introduction: Hereditary ataxias are caused by mutations in a plethora of different genes. Advances in sequencing technologies have led to an exponential increase in novel gene discoveries,... |
| Databáze: | OpenAIRE |
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