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Journal Abstract Search

220 related items for PubMed ID: 16415965

  • 1.
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  • 2. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 3. A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins.
    Wang P, Ju W, Wu D, Wang L, Yan M, Zou J, He B, Jenkins EC, Brown WT, Zhong N.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2011 Feb 15; 879(5-6):304-16. PubMed ID: 21242110
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  • 4. 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 15; 76(4):372-82. PubMed ID: 19793312
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  • 5. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
    Mole SE, Williams RE, Goebel HH.
    Neurogenetics; 2005 Sep 15; 6(3):107-26. PubMed ID: 15965709
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  • 6. 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 15; 41(4):297-300. PubMed ID: 19748052
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  • 7. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
    Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.
    J Neurol; 2003 Jun 15; 250(6):661-7. PubMed ID: 12796825
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  • 8. 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 15; 119(1-2):160-7. PubMed ID: 27553878
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  • 9. 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
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  • 10. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
    Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP.
    Ned Tijdschr Geneeskd; 2005 Feb 05; 149(6):300-3. PubMed ID: 15730038
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  • 11. 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 05; 36(10):1917-9. PubMed ID: 26032578
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  • 16. 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 05; 34(5):706-13. PubMed ID: 23418007
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  • 17. [Neuronal ceroid lipofuscinosis. Closing chapter of a long story].
    Elleder M.
    Cesk Patol; 2000 May 05; 36(2):43-59. PubMed ID: 10916928
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  • 19. 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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  • 20. 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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