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ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
BACKGROUND: In the isolated population of Sardinia, a Mediterranean island, ~25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene. OBJECTIVE: To describe the co-presence of two genetic mutations in two...
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| Udgivet i: | J Neurol Neurosurg Psychiatry |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2012
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4568835/ https://ncbi.nlm.nih.gov/pubmed/22550220 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-302219 |
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