192 related articles for article (PubMed ID: 19718781)
1. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Rodríguez-Pascau L; Coll MJ; Vilageliu L; Grinberg D
Hum Mutat; 2009 Nov; 30(11):E993-E1001. PubMed ID: 19718781
[TBL] [Abstract][Full Text] [Related]
2. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Di Leo E; Panico F; Tarugi P; Battisti C; Federico A; Calandra S
Hum Mutat; 2004 Nov; 24(5):440. PubMed ID: 15459971
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J; Rodríguez-Pascau L; Sánchez-Ollé G; Lluch M; Vilageliu L; Grinberg D; Coll MJ;
Clin Genet; 2011 Jul; 80(1):39-49. PubMed ID: 20718790
[TBL] [Abstract][Full Text] [Related]
4. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD; O'Brien JF; Lundquist PA; Kraft DL; Vockley CW; Karnes PS; Patterson MC; Snow K
Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
[TBL] [Abstract][Full Text] [Related]
5. Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.
Yamamoto T; Feng JH; Higaki K; Taniguchi M; Nanba E; Ninomiya H; Ohno K
Brain Dev; 2004 Jun; 26(4):245-50. PubMed ID: 15130691
[TBL] [Abstract][Full Text] [Related]
6. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
[TBL] [Abstract][Full Text] [Related]
7. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K; Rodriguez C; Vey S; Vanier MT; Millat G
Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
[TBL] [Abstract][Full Text] [Related]
8. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
Blázquez L; Aiastui A; Goicoechea M; Martins de Araujo M; Avril A; Beley C; García L; Valcárcel J; Fortes P; López de Munain A
Hum Mutat; 2013 Oct; 34(10):1387-95. PubMed ID: 23864287
[TBL] [Abstract][Full Text] [Related]
9. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
[TBL] [Abstract][Full Text] [Related]
10. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM; Ballart A; Iturriaga C; Lluch M; Macias J; Vanier MT; Pineda M; Coll MJ
Clin Genet; 2005 Sep; 68(3):245-54. PubMed ID: 16098014
[TBL] [Abstract][Full Text] [Related]
11. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL; Homer VM; George PM; Brennan SO
Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
[TBL] [Abstract][Full Text] [Related]
12. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
Tamura H; Takahashi T; Ban N; Torisu H; Ninomiya H; Takada G; Inagaki N
Mol Genet Metab; 2006 Feb; 87(2):113-21. PubMed ID: 16143556
[TBL] [Abstract][Full Text] [Related]
13. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
[TBL] [Abstract][Full Text] [Related]
14. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
Godeiro-Júnior C; Inaoka RJ; Barbosa MR; Silva MR; Aguiar Pde C; Barsottini O
Mov Disord; 2006 Dec; 21(12):2270-2. PubMed ID: 17044092
[No Abstract] [Full Text] [Related]
15. NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H; Dolle D; Schlitter AM; Zschocke J
Hum Mutat; 2008 Mar; 29(3):345-50. PubMed ID: 18081003
[TBL] [Abstract][Full Text] [Related]
16. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
[TBL] [Abstract][Full Text] [Related]
17. Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.
Lloyd-Evans E; Platt FM
Traffic; 2010 Apr; 11(4):419-28. PubMed ID: 20059748
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T; Dardis A; Rosano C; Tarugi P; Tappino B; Zampieri S; Pinotti E; Corsolini F; Fecarotta S; D'Amico A; Di Rocco M; Uziel G; Calandra S; Bembi B; Filocamo M
Neurogenetics; 2009 Jul; 10(3):229-39. PubMed ID: 19252935
[TBL] [Abstract][Full Text] [Related]
19. New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
Gómez-Grau M; Albaigès J; Casas J; Auladell C; Dierssen M; Vilageliu L; Grinberg D
Sci Rep; 2017 Feb; 7():41931. PubMed ID: 28167839
[TBL] [Abstract][Full Text] [Related]
20. Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
Macías-Vidal J; Gort L; Lluch M; Pineda M; Coll MJ
Mol Genet Metab; 2009 May; 97(1):60-4. PubMed ID: 19223215
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
