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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

226 related items for PubMed ID: 30541466

  • 1. Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
    Sheth J, Mistri M, Bhavsar R, Pancholi D, Kamate M, Gupta N, Kabra M, Mehta S, Nampoothiri S, Thakker A, Jain V, Shah R, Sheth F.
    BMC Neurol; 2018 Dec 12; 18(1):203. PubMed ID: 30541466
    [Abstract] [Full Text] [Related]

  • 2. Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
    Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.
    Mol Genet Metab; 2018 May 12; 124(1):64-70. PubMed ID: 29599076
    [Abstract] [Full Text] [Related]

  • 3. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
    Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W.
    Orphanet J Rare Dis; 2018 Apr 10; 13(1):54. PubMed ID: 29631617
    [Abstract] [Full Text] [Related]

  • 4. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
    Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH.
    Seizure; 2019 Jul 10; 69():180-185. PubMed ID: 31059981
    [Abstract] [Full Text] [Related]

  • 5. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
    Getty AL, Pearce DA.
    Cell Mol Life Sci; 2011 Feb 10; 68(3):453-74. PubMed ID: 20680390
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 516(1):114-21. PubMed ID: 23266810
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
    Kozina AA, Okuneva EG, Baryshnikova NV, Kondakova OB, Nikolaeva EA, Fedoniuk ID, Mikhailova SV, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Popov YV, Surkova EI, Shatalov PA, Rakitko AS, Ilinsky VV.
    Mol Genet Genomic Med; 2020 Jul 01; 8(7):e1228. PubMed ID: 32412666
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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 01; 12(1):93-5. PubMed ID: 20820830
    [No Abstract] [Full Text] [Related]

  • 12. Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
    Kohan R, Muller VJ, Fietz MJ, Cismondi AI, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 01; 123(5):553. PubMed ID: 20960655
    [No Abstract] [Full Text] [Related]

  • 13. 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 01; 36(10):1917-9. PubMed ID: 26032578
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
    Steigerwald C, Borsuk J, Pappas J, Galey M, Scott A, Devaney JM, Miller DE, Abreu NJ.
    Mol Genet Metab; 2023 Dec 01; 140(4):107713. PubMed ID: 37922835
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. 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 01; 76(4):372-82. PubMed ID: 19793312
    [Abstract] [Full Text] [Related]

  • 20. Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1.
    Collier AM, Nemtsova Y, Kuber N, Banach-Petrosky W, Modak A, Sleat DE, Nanda V, Lobel P.
    Biochem J; 2020 Feb 14; 477(3):727-745. PubMed ID: 31957806
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.