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Journal Abstract Search

465 related items for PubMed ID: 17679671

  • 1. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis.
    Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, Mao X, Kosofsky B, Kaplitt MG, Souweidane MM, Sondhi D, Hackett NR, Hollmann C, Crystal RG.
    Neurology; 2007 Aug 07; 69(6):521-35. PubMed ID: 17679671
    [Abstract] [Full Text] [Related]

  • 2. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
    Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschütter A.
    Am J Med Genet; 2002 Nov 01; 112(4):347-54. PubMed ID: 12376936
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  • 3. 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 01; 41(4):297-300. PubMed ID: 19748052
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  • 4. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
    Barisić N, Logan P, Pikija S, Skarpa D, Blau N.
    Croat Med J; 2003 Aug 01; 44(4):489-93. PubMed ID: 12950156
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  • 5. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
    Koul R, Al-Futaisi A, Ganesh A, Rangnath Bushnarmuth S.
    J Child Neurol; 2007 May 01; 22(5):555-9. PubMed ID: 17690061
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  • 6. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
    Crystal RG, Sondhi D, Hackett NR, Kaminsky SM, Worgall S, Stieg P, Souweidane M, Hosain S, Heier L, Ballon D, Dinner M, Wisniewski K, Kaplitt M, Greenwald BM, Howell JD, Strybing K, Dyke J, Voss H.
    Hum Gene Ther; 2004 Nov 01; 15(11):1131-54. PubMed ID: 15610613
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  • 8. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
    Hartikainen JM, Ju W, Wisniewski KE, Moroziewicz DN, Kaczmarski AL, McLendon L, Zhong D, Suarez CT, Brown WT, Zhong N.
    Mol Genet Metab; 1999 Jun 01; 67(2):162-8. PubMed ID: 10356316
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  • 10. AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.
    Sondhi D, Peterson DA, Giannaris EL, Sanders CT, Mendez BS, De B, Rostkowski AB, Blanchard B, Bjugstad K, Sladek JR, Redmond DE, Leopold PL, Kaminsky SM, Hackett NR, Crystal RG.
    Gene Ther; 2005 Nov 01; 12(22):1618-32. PubMed ID: 16052206
    [Abstract] [Full Text] [Related]

  • 11. Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.
    Young EP, Winchester BG, Peter Logan W, Wheeler RB, Lake BD.
    Prenat Diagn; 2000 Apr 01; 20(4):337-9. PubMed ID: 10740208
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  • 12. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.
    Worgall S, Sondhi D, Hackett NR, Kosofsky B, Kekatpure MV, Neyzi N, Dyke JP, Ballon D, Heier L, Greenwald BM, Christos P, Mazumdar M, Souweidane MM, Kaplitt MG, Crystal RG.
    Hum Gene Ther; 2008 May 01; 19(5):463-74. PubMed ID: 18473686
    [Abstract] [Full Text] [Related]

  • 13. Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
    Orlin A, Sondhi D, Witmer MT, Wessel MM, Mezey JG, Kaminsky SM, Hackett NR, Yohay K, Kosofsky B, Souweidane MM, Kaplitt MG, D'Amico DJ, Crystal RG, Kiss S.
    PLoS One; 2013 May 01; 8(8):e73128. PubMed ID: 24015292
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  • 14. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
    Steinfeld R, Steinke HB, Isbrandt D, Kohlschütter A, Gärtner J.
    Hum Mol Genet; 2004 Oct 15; 13(20):2483-91. PubMed ID: 15317752
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  • 15. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
    Lin L, Lobel P.
    Hum Mutat; 2001 Aug 15; 18(2):165. PubMed ID: 11462245
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  • 16. 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 15; 36(10):1917-9. PubMed ID: 26032578
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  • 18. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.
    Vopr Med Khim; 2002 Oct 15; 48(6):594-8. PubMed ID: 12698559
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  • 19. Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.
    Vanhanen SL, Puranen J, Autti T, Raininko R, Liewendahl K, Nikkinen P, Santavuori P, Suominen P, Vuori K, Häkkinen AM.
    Neuropediatrics; 2004 Feb 15; 35(1):27-35. PubMed ID: 15002049
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  • 20. 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 15; 69():180-185. PubMed ID: 31059981
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