Found: 14
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Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208383
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- Publication type:
- Article
The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
- Published in:
- Alzheimer's Research & Therapy, 2017, v. 9, p. 1, doi. 10.1186/s13195-017-0234-1
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- Publication type:
- Article
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1260, doi. 10.1038/ejhg.2013.37
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- Article
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
- Published in:
- Acta Neuropathologica, 2016, v. 132, n. 2, p. 213, doi. 10.1007/s00401-016-1566-9
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- Publication type:
- Article
Transposable element insertions in 1000 Swedish individuals.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289346
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- Publication type:
- Article
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0441-9
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- Publication type:
- Article
A systematic analysis of the silencing effects of an active siRNA at all single-nucleotide mismatched target sites.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 11, p. 3698
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- Publication type:
- Article
A systematic analysis of the silencing effects of an active siRNA at all single-nucleotide mismatched target sites.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 5, p. 1671
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- Publication type:
- Article
mRNA accessible site tagging (MAST): a novel high throughput method for selecting effective antisense oligonucleotides.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 14, p. e72, doi. 10.1093/nar/gng072
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- Publication type:
- Article
Reduced penetrance of the <italic>PSEN1</italic> H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.
- Published in:
- Alzheimer's Research & Therapy, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13195-018-0374-y
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- Publication type:
- Article
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1226, doi. 10.1002/humu.22908
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- Publication type:
- Article
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00203-z
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- Publication type:
- Article
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00203-z
- By:
- Publication type:
- Article