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Journal Abstract Search

212 related items for PubMed ID: 9450775

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  • 3. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA.
    Neurosci Lett; 2005 Oct 21; 387(2):111-4. PubMed ID: 16087292
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  • 4. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan 21; 19(1):42-6. PubMed ID: 15032383
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  • 5. Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
    Hofmann SL, Das AK, Yi W, Lu JY, Wisniewski KE.
    Mol Genet Metab; 1999 Apr 21; 66(4):234-9. PubMed ID: 10191107
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  • 6. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
    Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T.
    Pediatr Neurol; 2009 Feb 21; 40(2):134-7. PubMed ID: 19135632
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  • 7. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).
    Hofman IL, Taschner PE.
    Am J Med Genet; 1995 Jun 05; 57(2):165-7. PubMed ID: 7668323
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  • 9. Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
    Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Häkkinen AM, Kirveskari E, Santavuori P.
    Neurology; 1999 Jan 15; 52(2):360-5. PubMed ID: 9932957
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  • 10. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
    Taschner PE, de Vos N, Catsman-Berrevoets CE, van Duinen SG, Lindhout D, Breuning MH.
    Am J Med Genet; 1995 Jun 05; 57(2):338-43. PubMed ID: 7668359
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  • 11. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
    Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.
    Eur J Med Genet; 2015 Oct 05; 58(10):540-4. PubMed ID: 26360874
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  • 12. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
    Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A.
    Neurology; 2005 Feb 22; 64(4):740-2. PubMed ID: 15728307
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  • 13. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV, Miller JN, Pearce DA.
    J Child Neurol; 2013 Sep 22; 28(9):1112-6. PubMed ID: 23877479
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  • 14. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
    Järvelä I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P.
    Ann Neurol; 1997 Nov 22; 42(5):799-802. PubMed ID: 9392580
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  • 15. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.
    Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT.
    Folia Neuropathol; 1997 Nov 22; 35(2):73-9. PubMed ID: 9377079
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  • 16. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep 22; 129(9):890-895. PubMed ID: 30892110
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  • 17. Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.
    Wisniewski KE, Kaczmarski A, Kida E, Connell F, Kaczmarski W, Michalewski MP, Moroziewicz DN, Zhong N.
    Mol Genet Metab; 1999 Apr 22; 66(4):248-52. PubMed ID: 10191110
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  • 18. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.
    Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PE, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips HA, Thompson AD.
    Am J Med Genet; 1995 Jun 05; 57(2):312-5. PubMed ID: 7668353
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  • 19. Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.
    Xiong J, Kielian T.
    J Neurochem; 2013 Oct 05; 127(2):245-58. PubMed ID: 23919525
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  • 20. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr 05; 19(4):515-27. PubMed ID: 11988019
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