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Journal Abstract Search

519 related items for PubMed ID: 26032578

  • 1. 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
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  • 2. 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
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  • 5. 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; 69():180-185. PubMed ID: 31059981
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  • 8. Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
    Chang X, Huang Y, Meng H, Jiang Y, Wu Y, Xiong H, Wang S, Qin J.
    Brain Dev; 2012 Oct; 34(9):739-45. PubMed ID: 22245569
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  • 12. 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
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  • 13. 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 10; 34(5):706-13. PubMed ID: 23418007
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  • 14. 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 15; 23(8):2005-22. PubMed ID: 24271013
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  • 15. 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
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  • 17. Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum.
    Phillips JE, Gomer RH.
    Dis Model Mech; 2015 Feb 01; 8(2):147-56. PubMed ID: 25540127
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  • 18. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
    Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT.
    Genet Med; 2000 Feb 01; 2(6):312-8. PubMed ID: 11339651
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  • 19. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.
    Vopr Med Khim; 2002 Feb 01; 48(6):594-8. PubMed ID: 12698559
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