Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
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...
मुख्य लेखकों: | 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 |
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स्वरूप: | Journal article |
भाषा: | English |
प्रकाशित: |
2012
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समान संसाधन
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
द्वारा: Majounie, E, और अन्य
प्रकाशित: (2012) -
Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia
द्वारा: Ranjan Batra, और अन्य
प्रकाशित: (2017-07-01) -
Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72
द्वारा: Mary Kay Floeter, और अन्य
प्रकाशित: (2018-12-01) -
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
द्वारा: Yevgeniya A. Abramzon, और अन्य
प्रकाशित: (2020-02-01) -
Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat
द्वारा: Robert eFriedland, और अन्य
प्रकाशित: (2012-10-01)