581 related articles for article (PubMed ID: 23791309)
21. [Research advances in diagnosis and therapy of Niemann-Pick disease type C].
Ren SC; Gao BQ
Zhongguo Dang Dai Er Ke Za Zhi; 2015 May; 17(5):533-8. PubMed ID: 26014711
[TBL] [Abstract][Full Text] [Related]
22. The unique case of the Niemann-Pick type C cholesterol storage disorder.
Klein AD; Alvarez A; Zanlungo S
Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():166-75. PubMed ID: 25345099
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.
Kresojević N; Dobričić V; Svetel M; Kostić V
Med Hypotheses; 2014 Nov; 83(5):559-62. PubMed ID: 25220527
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Genome sequencing in a case of Niemann-Pick type C.
Dougherty M; Lazar J; Klein JC; Diaz K; Gobillot T; Grunblatt E; Hasle N; Lawrence D; Maurano M; Nelson M; Olson G; Srivatsan S; Shendure J; Keene CD; Bird T; Horwitz MS; Marshall DA
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001222. PubMed ID: 27900365
[TBL] [Abstract][Full Text] [Related]
30. [Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].
Vanier MT
Arch Pediatr; 2010 Jun; 17 Suppl 2():S41-4. PubMed ID: 20620894
[TBL] [Abstract][Full Text] [Related]
31. Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
Chikh K; Vey S; Simonot C; Vanier MT; Millat G
Mol Genet Metab; 2004 Nov; 83(3):220-30. PubMed ID: 15542393
[TBL] [Abstract][Full Text] [Related]
32. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J; Fobker M; Kannenberg F; Du Chesne I; Plate M; Wellhausen J; Rust S; Marquardt T
EBioMedicine; 2016 Feb; 4():170-5. PubMed ID: 26981555
[TBL] [Abstract][Full Text] [Related]
33. New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.
Fusco C; Russo A; Galla D; Hladnik U; Frattini D; Giustina ED
J Child Neurol; 2013 Dec; 28(12):1694-7. PubMed ID: 23112236
[TBL] [Abstract][Full Text] [Related]
34. Niemann-Pick type C disease: a QM/MM study of conformational changes in cholesterol in the NPC1(NTD) and NPC2 binding pockets.
Elghobashi-Meinhardt N
Biochemistry; 2014 Oct; 53(41):6603-14. PubMed ID: 25251378
[TBL] [Abstract][Full Text] [Related]
35. Impaired dynamics of the late endosome/lysosome compartment in human Niemann-Pick type C skin fibroblasts carrying mutation in NPC1 gene.
Sztolsztener ME; Dobrzyn A; Pikula S; Tylki-Szymanska A; Bandorowicz-Pikula J
Mol Biosyst; 2012 Apr; 8(4):1197-205. PubMed ID: 22286891
[TBL] [Abstract][Full Text] [Related]
36. Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.
Çakar NE; Önal H
Ideggyogy Sz; 2021 Mar; 74(3-4):139-144. PubMed ID: 33938663
[TBL] [Abstract][Full Text] [Related]
37. Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.
Vance JE; Peake KB
Curr Opin Lipidol; 2011 Jun; 22(3):204-9. PubMed ID: 21412152
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. 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]
[Previous] [Next] [New Search]