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Journal Abstract Search

160 related items for PubMed ID: 36576693

  • 21. Recognition and epileptology of protracted CLN3 disease.
    Cameron JM, Damiano JA, Grinton B, Carney PW, McKelvie P, Silbert P, Lawn N, Scheffer IE, Oliver KL, Hildebrand MS, Berkovic SF.
    Epilepsia; 2023 Jul; 64(7):1833-1841. PubMed ID: 37039534
    [Abstract] [Full Text] [Related]

  • 22. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
    Vesa J, Peltonen L.
    Curr Mol Med; 2002 Aug; 2(5):439-44. PubMed ID: 12125809
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  • 24. Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
    Seifert C, Storch S, Bähring R.
    J Biol Chem; 2020 Aug 21; 295(34):12099-12110. PubMed ID: 32641494
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  • 25. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
    Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE.
    Hum Mol Genet; 2008 Jan 15; 17(2):303-12. PubMed ID: 17947292
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  • 26. A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
    Sleat DE, Banach-Petrosky W, Larrimore KE, Nemtsova Y, Wiseman JA, Najafi A, Johnson D, Poole TA, Takahashi K, Cooper JD, Lobel P.
    J Inherit Metab Dis; 2023 Jul 15; 46(4):720-734. PubMed ID: 37078466
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  • 28. 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 15; 40(2):134-7. PubMed ID: 19135632
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  • 29. Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady.
    Shematorova EK, Shpakovski DG, Chernysheva AD, Shpakovski GV.
    Biol Direct; 2018 Sep 25; 13(1):19. PubMed ID: 30621751
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  • 30. Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo.
    Schultz ML, Tecedor L, Lysenko E, Ramachandran S, Stein CS, Davidson BL.
    Neurobiol Dis; 2018 Jul 25; 115():182-193. PubMed ID: 29660499
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  • 31. Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
    Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T.
    Mol Genet Genomic Med; 2020 Aug 25; 8(8):e1308. PubMed ID: 32441891
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  • 33. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
    Shematorova EK, Shpakovski GV.
    Int J Mol Sci; 2020 Oct 29; 21(21):. PubMed ID: 33137890
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  • 35. Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.
    Furusawa Y, Mizukami K, Yabuki A, Kuwamura M, Chang HS, Hossain MA, Rahman MM, Uddin MM, Mitani S, Yamato O.
    Vet J; 2012 Dec 29; 194(3):425-8. PubMed ID: 22627044
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  • 37. Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Leman AR, Pearce DA, Rothberg PG.
    Hum Genet; 2005 May 29; 116(6):544. PubMed ID: 15991331
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  • 38. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures.
    Ding SL, Tecedor L, Stein CS, Davidson BL.
    Neurobiol Dis; 2011 Feb 29; 41(2):237-48. PubMed ID: 20875858
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  • 39. Spectrum of mutations in the Batten disease gene, CLN3.
    Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE.
    Am J Hum Genet; 1997 Aug 29; 61(2):310-6. PubMed ID: 9311735
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  • 40. A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.
    Gilani N, Razmara E, Ozaslan M, Abdulzahra IK, Arzhang S, Tavasoli AR, Garshasbi M.
    Acta Neurol Belg; 2021 Jun 29; 121(3):737-748. PubMed ID: 33783722
    [Abstract] [Full Text] [Related]

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