251 related articles for article (PubMed ID: 30820861)
1. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M; Bock H; Farias ACS; Mergener R; Matte MC; Gil MS; Nepomuceno F; Souza FTS; Gus R; Giugliani R; Saraiva-Pereira ML
Mol Neurobiol; 2019 Sep; 56(9):6426-6435. PubMed ID: 30820861
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I; Irún P; Cebolla JJ; Rodriguez-Sureda V; Mallén M; Pueyo MJ; Mozas P; Dominguez C; Pocoví M;
J Transl Med; 2017 Feb; 15(1):43. PubMed ID: 28222799
[TBL] [Abstract][Full Text] [Related]
4. Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
Yoon HJ; Jeong H; Lee HH; Jang S
J Neurochem; 2021 Mar; 156(6):967-978. PubMed ID: 32880929
[TBL] [Abstract][Full Text] [Related]
5. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Topçu M; Aktas D; Öztoprak M; Mungan NÖ; Yuce A; Alikasifoglu M
Mol Diagn Ther; 2017 Dec; 21(6):643-651. PubMed ID: 28808920
[TBL] [Abstract][Full Text] [Related]
6. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B; Baruteau J; Rahim AA; Gissen P
Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32709131
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H; Higaki K; Wei CJ; Bao XH; Zhang YH; Fu N; Qin J; Adachi K; Kumura Y; Ninomiya H; Nanba E; Wu XR
Gene; 2012 May; 498(2):332-5. PubMed ID: 22326530
[TBL] [Abstract][Full Text] [Related]
9. Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H; Wang Y; Lin N; Yang R; Qiu W; Han L; Ye J; Gu X
Orphanet J Rare Dis; 2014 Jun; 9():82. PubMed ID: 24915861
[TBL] [Abstract][Full Text] [Related]
10. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Bauer P; Balding DJ; Klünemann HH; Linden DE; Ory DS; Pineda M; Priller J; Sedel F; Muller A; Chadha-Boreham H; Welford RW; Strasser DS; Patterson MC
Hum Mol Genet; 2013 Nov; 22(21):4349-56. PubMed ID: 23773996
[TBL] [Abstract][Full Text] [Related]
11. Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the
Liedtke M; Völkner C; Jürs AV; Peter F; Rabenstein M; Hermann A; Frech MJ
Int J Mol Sci; 2021 Apr; 22(8):. PubMed ID: 33924575
[TBL] [Abstract][Full Text] [Related]
12. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Rodríguez-Pascau L; Toma C; Macías-Vidal J; Cozar M; Cormand B; Lykopoulou L; Coll MJ; Grinberg D; Vilageliu L
Mol Genet Metab; 2012 Dec; 107(4):716-20. PubMed ID: 23142039
[TBL] [Abstract][Full Text] [Related]
13. New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L; Cebolla JJ; Aldámiz-Echevarría L; de la Vega Á; Stanescu S; Lahoz C; Irún P; Giraldo P
Mol Biol Rep; 2020 Mar; 47(3):2085-2095. PubMed ID: 32060698
[TBL] [Abstract][Full Text] [Related]
14. Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.
Zampieri S; Bianchi E; Cantile C; Saleri R; Bembi B; Dardis A
PLoS One; 2014; 9(11):e112503. PubMed ID: 25396745
[TBL] [Abstract][Full Text] [Related]
15. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C; Zhao M; Zhang X; Hao J; Huo Q; Sun J; Xing J; Zhang Y; Zhao J; Huang H
BMC Infect Dis; 2024 Jan; 24(1):145. PubMed ID: 38291356
[TBL] [Abstract][Full Text] [Related]
16. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
Alavi A; Nafissi S; Shamshiri H; Nejad MM; Elahi E
Mol Genet Metab; 2013; 110(1-2):139-44. PubMed ID: 23791309
[TBL] [Abstract][Full Text] [Related]
17. Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C; Liedtke M; Untucht R; Hermann A; Frech MJ
Int J Mol Sci; 2021 Nov; 22(22):. PubMed ID: 34830064
[TBL] [Abstract][Full Text] [Related]
18. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
Dvorakova L; Sikora J; Hrebicek M; Hulkova H; Bouckova M; Stolnaja L; Elleder M
J Inherit Metab Dis; 2006 Aug; 29(4):591. PubMed ID: 16802107
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Bountouvi E; Papadopoulou A; Vanier MT; Nyktari G; Kanellakis S; Michelakakis H; Dinopoulos A
BMC Med Genet; 2017 May; 18(1):51. PubMed ID: 28472934
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]