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Journal Abstract Search

153 related items for PubMed ID: 17560505

  • 21. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
    Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM.
    Biochem Biophys Res Commun; 2009 Feb 20; 379(4):892-7. PubMed ID: 19135028
    [Abstract] [Full Text] [Related]

  • 22. 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 20; 41(4):297-300. PubMed ID: 19748052
    [Abstract] [Full Text] [Related]

  • 23. Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.
    Allen NM, O'hIci B, Anderson G, Nestor T, Lynch SA, King MD.
    Clin Genet; 2012 Jun 20; 81(6):602-4. PubMed ID: 22220808
    [No Abstract] [Full Text] [Related]

  • 24. CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
    Badura-Stronka M, Winczewska-Wiktor A, Pietrzak A, Hirschfeld AS, Zemojtel T, Wołyńska K, Bednarek-Rajewska K, Seget-Dubaniewicz M, Matheisel A, Latos-Bielenska A, Steinborn B.
    Genes (Basel); 2021 Jun 23; 12(7):. PubMed ID: 34201538
    [Abstract] [Full Text] [Related]

  • 25. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.
    Hum Mutat; 2009 Mar 23; 30(3):E530-40. PubMed ID: 19177532
    [Abstract] [Full Text] [Related]

  • 26. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
    Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C.
    Mol Genet Metab; 2017 Mar 23; 120(3):269-277. PubMed ID: 28024876
    [Abstract] [Full Text] [Related]

  • 27. Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.
    Kolikova J, Afzalov R, Surin A, Lehesjoki AE, Khiroug L.
    Cell Calcium; 2011 Dec 23; 50(6):491-501. PubMed ID: 21917311
    [Abstract] [Full Text] [Related]

  • 28. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.
    Clin Genet; 2009 Jul 23; 76(1):38-45. PubMed ID: 19489875
    [Abstract] [Full Text] [Related]

  • 29. [A clinicopathological study of neuronal ceroid lipofuscinosis].
    Xiao B.
    Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1992 Oct 23; 25(5):278-80, 316. PubMed ID: 1291248
    [Abstract] [Full Text] [Related]

  • 30. Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.
    Mahajnah M, Zelnik N.
    Pediatr Neurol; 2012 Oct 23; 47(4):303-5. PubMed ID: 22964447
    [Abstract] [Full Text] [Related]

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  • 32. A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
    Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A.
    J Neurol; 2002 Oct 23; 249(10):1398-400. PubMed ID: 12382155
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  • 35. Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
    Kuronen M, Hermansson M, Manninen O, Zech I, Talvitie M, Laitinen T, Gröhn O, Somerharju P, Eckhardt M, Cooper JD, Lehesjoki AE, Lahtinen U, Kopra O.
    Neuropathol Appl Neurobiol; 2012 Aug 23; 38(5):471-86. PubMed ID: 22044361
    [Abstract] [Full Text] [Related]

  • 36. 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 23; 44(4):489-93. PubMed ID: 12950156
    [Abstract] [Full Text] [Related]

  • 37. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
    Cismondi IA, Cannelli N, Aiello C, Santorelli FM, Kohan R, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 23; 123(5):554. PubMed ID: 20960661
    [No Abstract] [Full Text] [Related]

  • 38. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.
    Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM.
    Pediatr Res; 2008 Jun 23; 63(6):625-31. PubMed ID: 18317235
    [Abstract] [Full Text] [Related]

  • 39. Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
    Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O, Peltonen L.
    Neurobiol Dis; 2005 Feb 23; 18(1):226-41. PubMed ID: 15649713
    [Abstract] [Full Text] [Related]

  • 40. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.
    Kohan R, Cannelli N, Aiello C, Santorelli FM, Cismondi AI, Milà M, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 23; 123(5):552. PubMed ID: 20960652
    [No Abstract] [Full Text] [Related]

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