Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Εμφάνιση άλλων εκδόσεων (1)

BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). METHODS: We screened 4448 patients diagnosed with ALS (El Esco...

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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Majounie, E, Renton, A, Mok, K, Dopper, E, Waite, A, Rollinson, S, Chiò, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J, Abramzon, Y, Johnson, J, Sendtner, M, Pamphlett, R, Orrell, R, Mead, S, Sidle, K, Houlden, H, Rohrer, J, Morrison, K, Pall, H, Talbot, K, Ansorge, O, Hernandez, D
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2012

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ανά: Karri Kaivola, κ.ά.
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