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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 30323181)

  • 1. Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease).
    Sindelar M; Dyke JP; Deeb RS; Sondhi D; Kaminsky SM; Kosofsky BE; Ballon DJ; Crystal RG; Gross SS
    Sci Rep; 2018 Oct; 8(1):15229. PubMed ID: 30323181
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
    Gardner E; Bailey M; Schulz A; Aristorena M; Miller N; Mole SE
    Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
    Katz ML; Coates JR; Sibigtroth CM; Taylor JD; Carpentier M; Young WM; Wininger FA; Kennedy D; Vuillemenot BR; O'Neill CA
    J Neurosci Res; 2014 Nov; 92(11):1591-8. PubMed ID: 24938720
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
    Kohlschütter A; Schulz A
    Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1():682-8. PubMed ID: 27491216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
    Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
    Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F; Liu XM; Chen YH; Zhang SQ; Wang K
    Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
    [No Abstract]   [Full Text] [Related]  

  • 7. Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
    Sleat DE; Tannous A; Sohar I; Wiseman JA; Zheng H; Qian M; Zhao C; Xin W; Barone R; Sims KB; Moore DF; Lobel P
    J Proteome Res; 2017 Oct; 16(10):3787-3804. PubMed ID: 28792770
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
    Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
    Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
    Vuillemenot BR; Kennedy D; Cooper JD; Wong AM; Sri S; Doeleman T; Katz ML; Coates JR; Johnson GC; Reed RP; Adams EL; Butt MT; Musson DG; Henshaw J; Keve S; Cahayag R; Tsuruda LS; O'Neill CA
    Mol Genet Metab; 2015 Feb; 114(2):281-93. PubMed ID: 25257657
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
    Katz ML; Johnson GC; Leach SB; Williamson BG; Coates JR; Whiting REH; Vansteenkiste DP; Whitney MS
    Gene Ther; 2017 Apr; 24(4):215-223. PubMed ID: 28079862
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy.
    Chakrabarti S; Chandra S; Roy A; Dasarathi S; Kundu M; Pahan K
    Neurobiol Dis; 2019 Jul; 127():362-373. PubMed ID: 30928643
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
    Munesue Y; Ageyama N; Kimura N; Takahashi I; Nakayama S; Okabayashi S; Katakai Y; Koie H; Yagami KI; Ishii K; Tamaoka A; Yasutomi Y; Shimozawa N
    Exp Neurol; 2023 May; 363():114381. PubMed ID: 36918063
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
    Wang YL; Zeng ZY; Song XW; Hao ZF; Shi YW; Tang B; Chen SQ; Gao MM; Di W; Long YS; Yi YH; Liao WP
    Neurogenetics; 2011 Feb; 12(1):93-5. PubMed ID: 20820830
    [No Abstract]   [Full Text] [Related]  

  • 14. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
    Sun Y; Almomani R; Breedveld GJ; Santen GW; Aten E; Lefeber DJ; Hoff JI; Brusse E; Verheijen FW; Verdijk RM; Kriek M; Oostra B; Breuning MH; Losekoot M; den Dunnen JT; van de Warrenburg BP; Maat-Kievit AJ
    Hum Mutat; 2013 May; 34(5):706-13. PubMed ID: 23418007
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H; Halevi A; Marom D; Straussberg R; Mimouni-Bloch A
    Pediatr Neurol; 2009 Oct; 41(4):297-300. PubMed ID: 19748052
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
    Kohan R; Carabelos MN; Xin W; Sims K; Guelbert N; Cismondi IA; Pons P; Alonso GI; Troncoso M; Witting S; Pearce DA; Dodelson de Kremer R; Oller-Ramírez AM; Noher de Halac I
    Gene; 2013 Mar; 516(1):114-21. PubMed ID: 23266810
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
    Katz ML; Tecedor L; Chen Y; Williamson BG; Lysenko E; Wininger FA; Young WM; Johnson GC; Whiting RE; Coates JR; Davidson BL
    Sci Transl Med; 2015 Nov; 7(313):313ra180. PubMed ID: 26560358
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
    Kohan R; Cismondi IA; Kremer RD; Muller VJ; Guelbert N; Anzolini VT; Fietz MJ; Ramírez AM; Halac IN
    Clin Genet; 2009 Oct; 76(4):372-82. PubMed ID: 19793312
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
    Lojewski X; Staropoli JF; Biswas-Legrand S; Simas AM; Haliw L; Selig MK; Coppel SH; Goss KA; Petcherski A; Chandrachud U; Sheridan SD; Lucente D; Sims KB; Gusella JF; Sondhi D; Crystal RG; Reinhardt P; Sterneckert J; Schöler H; Haggarty SJ; Storch A; Hermann A; Cotman SL
    Hum Mol Genet; 2014 Apr; 23(8):2005-22. PubMed ID: 24271013
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.
    Mahmood F; Fu S; Cooke J; Wilson SW; Cooper JD; Russell C
    Brain; 2013 May; 136(Pt 5):1488-507. PubMed ID: 23587805
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.