These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
398 related articles for article (PubMed ID: 16126423)
21. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
22. 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]
23. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Shabbeer J; Robinson M; Desnick RJ Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228 [TBL] [Abstract][Full Text] [Related]
24. 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]
25. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G; Chikh K; Naureckiene S; Sleat DE; Fensom AH; Higaki K; Elleder M; Lobel P; Vanier MT Am J Hum Genet; 2001 Nov; 69(5):1013-21. PubMed ID: 11567215 [TBL] [Abstract][Full Text] [Related]
26. 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]
27. Guilty until proven innocent: the case of NPC1 and cholesterol. Ioannou YA Trends Biochem Sci; 2005 Sep; 30(9):498-505. PubMed ID: 16054367 [TBL] [Abstract][Full Text] [Related]
28. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Ribeiro I; Marcão A; Amaral O; Sá Miranda MC; Vanier MT; Millat G Hum Genet; 2001 Jul; 109(1):24-32. PubMed ID: 11479732 [TBL] [Abstract][Full Text] [Related]
29. Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function. Frolov A; Srivastava K; Daphna-Iken D; Traub LM; Schaffer JE; Ory DS J Biol Chem; 2001 Dec; 276(49):46414-21. PubMed ID: 11571306 [TBL] [Abstract][Full Text] [Related]
30. Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Battisti C; Tarugi P; Dotti MT; De Stefano N; Vattimo A; Chierichetti F; Calandra S; Federico A Mov Disord; 2003 Nov; 18(11):1405-9. PubMed ID: 14639697 [TBL] [Abstract][Full Text] [Related]
31. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene. Crépin M; Pigny P; Escande F; Bauters CC; Calender A; Lefevre S; Buisine MP; Porchet N; Odou MF J Mol Endocrinol; 2006 Apr; 36(2):369-76. PubMed ID: 16595707 [TBL] [Abstract][Full Text] [Related]
32. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Morris JA; Zhang D; Coleman KG; Nagle J; Pentchev PG; Carstea ED Biochem Biophys Res Commun; 1999 Aug; 261(2):493-8. PubMed ID: 10425213 [TBL] [Abstract][Full Text] [Related]
33. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop. Watari H; Blanchette-Mackie EJ; Dwyer NK; Watari M; Burd CG; Patel S; Pentchev PG; Strauss JF Exp Cell Res; 2000 Aug; 259(1):247-56. PubMed ID: 10942596 [TBL] [Abstract][Full Text] [Related]
34. 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]
35. Role of Niemann-Pick Type C Disease Mutations in Dementia. Cupidi C; Frangipane F; Gallo M; Clodomiro A; Colao R; Bernardi L; Anfossi M; Conidi ME; Vasso F; Curcio SA; Mirabelli M; Smirne N; Torchia G; Muraca MG; Puccio G; Di Lorenzo R; Zampieri S; Romanello M; Dardis A; Maletta RG; Bruni AC J Alzheimers Dis; 2017; 55(3):1249-1259. PubMed ID: 27792009 [TBL] [Abstract][Full Text] [Related]
36. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Sleat DE; Wiseman JA; El-Banna M; Price SM; Verot L; Shen MM; Tint GS; Vanier MT; Walkley SU; Lobel P Proc Natl Acad Sci U S A; 2004 Apr; 101(16):5886-91. PubMed ID: 15071184 [TBL] [Abstract][Full Text] [Related]
37. A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. Ezzeldin H; Okamoto Y; Johnson MR; Diasio RB Anal Biochem; 2002 Jul; 306(1):63-73. PubMed ID: 12069415 [TBL] [Abstract][Full Text] [Related]