Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies
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| Veröffentlicht in: | European journal of neurology 2012-08, Vol.19 (8), p.e77-e78 |
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| container_end_page | e78 |
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| container_issue | 8 |
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| container_title | European journal of neurology |
| container_volume | 19 |
| creator | Masciullo, M. Modoni, A. Tessa, A. Santorelli, F. M. Rizzo, V. D'Amico, G. Laschena, F. Tartaglione, T. Silvestri, G. |
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| doi_str_mv | 10.1111/j.1468-1331.2012.03752.x |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 1351-5101 |
| ispartof | European journal of neurology, 2012-08, Vol.19 (8), p.e77-e78 |
| issn | 1351-5101 1468-1331 |
| language | eng |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adult ARSACS Brain - pathology brain MRI Female Heat-Shock Proteins - genetics Humans Italy Magnetic Resonance Imaging Muscle Spasticity - genetics Muscle Spasticity - pathology Mutation sacsin spastic ataxia Spinocerebellar Ataxias - congenital Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology |
| title | Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies |
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