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Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery
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scholarly article
1 reference
stated in
PubMed
title
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery
(English)
1 reference
stated in
PubMed
author
D Grinberg
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
author name string
Belen Pérez
series ordinal
1
2 references
stated in
Crossref
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
Lluisa Vilageliu
series ordinal
2
2 references
stated in
Crossref
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
Lourdes R Desviat
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
language of work or name
English
1 reference
stated in
PubMed
publication date
February 2014
1 reference
stated in
PubMed
published in
Nucleic Acid Therapeutics
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
volume
24
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
issue
1
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
page(s)
48-56
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
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Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
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New splicing mutations in propionic acidemia
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922136
retrieved
28 November 2018
Skeletal muscle mass and distribution in 468 men and women aged 18-88 yr
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922136
retrieved
28 November 2018
DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular analysis of 30 Niemann-Pick type C patients from Spain
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Transposable elements in disease-associated cryptic exons
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Efficient and persistent splice switching by systemically delivered LNA oligonucleotides in mice
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phenylketonuria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Local dystrophin restoration with antisense oligonucleotide PRO051
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Further developments with antisense treatment for myasthenia gravis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24506780
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1089/NAT.2013.0453
1 reference
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
Fatcat ID
release_nt3se6qxj5dglgz6ixpd3w7vou
0 references
PMCID
3922136
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
PubMed ID
24506780
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
3922136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24506780%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 June 2020
ResearchGate publication ID
260128663
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