276 related articles for article (PubMed ID: 24386122)
1. Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M; Nübling G; Castrop F; Jochim A; Schulte EC; Mollenhauer B; Lichtner P; Peters A; Gieger C; Marquardt T; Vanier MT; Latour P; Klünemann H; Trenkwalder C; Diehl-Schmid J; Perneczky R; Meitinger T; Oexle K; Haslinger B; Lorenzl S; Winkelmann J
PLoS One; 2013; 8(12):e82879. PubMed ID: 24386122
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G; Baïlo N; Molinero S; Rodriguez C; Chikh K; Vanier MT
Mol Genet Metab; 2005; 86(1-2):220-32. PubMed ID: 16126423
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X; Marks DL; Park WD; Wheatley CL; Puri V; O'Brien JF; Kraft DL; Lundquist PA; Patterson MC; Pagano RE; Snow K
Am J Hum Genet; 2001 Jun; 68(6):1361-72. PubMed ID: 11349231
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Screening for Niemann-Pick type C disease in neurodegenerative diseases.
Boenzi S; Dardis A; Russo P; Bellofatto M; Imbriglio T; Fico T; De Michele G; De Rosa A
J Clin Neurosci; 2019 Oct; 68():266-267. PubMed ID: 31221578
[TBL] [Abstract][Full Text] [Related]
8. Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh B; Senkevich K; Rudakou U; Yu E; Mufti K; Ruskey JA; Asayesh F; Laurent SB; Spiegelman D; Fahn S; Waters C; Monchi O; Dauvilliers Y; Espay AJ; Dupré N; Greenbaum L; Hassin-Baer S; Rouleau GA; Alcalay RN; Fon EA; Gan-Or Z
Neurobiol Aging; 2020 Sep; 93():143.e1-143.e4. PubMed ID: 32371106
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA; Cross JL; Iben J; Sanchez-Pulido L; Cougnoux A; Platt FM; Ory DS; Ponting CP; Bailey-Wilson JE; Biesecker LG; Porter FD
Genet Med; 2016 Jan; 18(1):41-8. PubMed ID: 25764212
[TBL] [Abstract][Full Text] [Related]
11. Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Kluenemann HH; Nutt JG; Davis MY; Bird TD
J Neurol Sci; 2013 Dec; 335(1-2):219-20. PubMed ID: 24035292
[TBL] [Abstract][Full Text] [Related]
12. Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?
Erickson RP
J Appl Genet; 2018 Nov; 59(4):441-447. PubMed ID: 30209687
[TBL] [Abstract][Full Text] [Related]
13. Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
Blom TS; Linder MD; Snow K; Pihko H; Hess MW; Jokitalo E; Veckman V; Syvänen AC; Ikonen E
Hum Mol Genet; 2003 Feb; 12(3):257-72. PubMed ID: 12554680
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.
Vance JE; Karten B
J Lipid Res; 2014 Aug; 55(8):1609-21. PubMed ID: 24664998
[TBL] [Abstract][Full Text] [Related]
18. Altered vitamin E status in Niemann-Pick type C disease.
Ulatowski L; Parker R; Davidson C; Yanjanin N; Kelley TJ; Corey D; Atkinson J; Porter F; Arai H; Walkley SU; Manor D
J Lipid Res; 2011 Jul; 52(7):1400-10. PubMed ID: 21550990
[TBL] [Abstract][Full Text] [Related]
19. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Yang CC; Su YN; Chiou PC; Fietz MJ; Yu CL; Hwu WL; Lee MJ
J Neurol Neurosurg Psychiatry; 2005 Apr; 76(4):592-5. PubMed ID: 15774455
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]