BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

304 related articles for article (PubMed ID: 14551697)

  • 1. [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].
    Grau AJ; Weisbrod M; Hund E; Harzer K
    Nervenarzt; 2003 Oct; 74(10):900-5. PubMed ID: 14551697
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.
    Lossos A; Schlesinger I; Okon E; Abramsky O; Bargal R; Vanier MT; Zeigler M
    Arch Neurol; 1997 Dec; 54(12):1536-41. PubMed ID: 9400363
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
    Maubert A; Hanon C; Metton JP
    Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Niemann-Pick disease type C: analysis of 7 patients.
    Xiong H; Bao XH; Zhang YH; Xu YN; Qin J; Shi HP; Wu XR
    World J Pediatr; 2012 Feb; 8(1):61-6. PubMed ID: 21633862
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Niemann-Pick type C disease associated with peripheral neuropathy.
    Zafeiriou DI; Triantafyllou P; Gombakis NP; Vargiami E; Tsantali C; Michelakaki E
    Pediatr Neurol; 2003 Sep; 29(3):242-4. PubMed ID: 14629910
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. [Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].
    Wakida K; Matsuyama Z; Suzuki Y; Sawada M; Tsurumi H; Kimura A; Hayashi Y; Hashizume T; Hozumi I; Inuzuka T
    No To Shinkei; 2004 Dec; 56(12):1047-53. PubMed ID: 15729883
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
    Vanier MT
    Prenat Diagn; 2002 Jul; 22(7):630-2. PubMed ID: 12124701
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Niemann-Pick diseases.
    Vanier MT
    Handb Clin Neurol; 2013; 113():1717-21. PubMed ID: 23622394
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Neurovisceral deposits with supranuclear ophthalmoplegia of vertical movements and presence in the bone marrow of blue histiocytes or Neville's disease. Report of two cases].
    Pons G; Ponsot G; Leveque B; Lyon G
    Ann Pediatr (Paris); 1976 Sep; 23(8-9):503-8. PubMed ID: 16104184
    [No Abstract]   [Full Text] [Related]  

  • 17. Niemann-Pick disease type C.
    Vanier MT
    Orphanet J Rare Dis; 2010 Jun; 5():16. PubMed ID: 20525256
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.
    Strauss JF; Liu P; Christenson LK; Watari H
    Steroids; 2002 Nov; 67(12):947-51. PubMed ID: 12398991
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system.
    Garver WS; Heidenreich RA
    Curr Mol Med; 2002 Aug; 2(5):485-505. PubMed ID: 12125814
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells.
    Yan-Go FL; Yanagihara T; Pierre RV; Goldstein NP
    Mayo Clin Proc; 1984 Jun; 59(6):404-10. PubMed ID: 6727430
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.