These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

377 related items for PubMed ID: 19177532

  • 1. 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; 30(3):E530-40. PubMed ID: 19177532
    [Abstract] [Full Text] [Related]

  • 2. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
    Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.
    Clin Genet; 2005 Aug; 68(2):167-73. PubMed ID: 15996215
    [Abstract] [Full Text] [Related]

  • 3. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
    Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.
    Brain; 2009 Mar; 132(Pt 3):810-9. PubMed ID: 19201763
    [Abstract] [Full Text] [Related]

  • 4. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.
    Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
    Salonen T, Järvelä I, Peltonen L, Jalanko A.
    Hum Mutat; 2000 Feb 20; 15(3):273-9. PubMed ID: 10679943
    [Abstract] [Full Text] [Related]

  • 8. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
    Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE.
    Am J Hum Genet; 2007 Jul 20; 81(1):136-46. PubMed ID: 17564970
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
    Wheeler RB, Sharp JD, Mitchell WA, Bate SL, Williams RE, Lake BD, Gardiner RM.
    Mol Genet Metab; 1999 Apr 20; 66(4):337-8. PubMed ID: 10191125
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
    Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS.
    BMC Vet Res; 2015 Jan 03; 10():960. PubMed ID: 25551667
    [Abstract] [Full Text] [Related]

  • 15. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
    Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.
    Neurogenetics; 2006 May 03; 7(2):111-7. PubMed ID: 16570191
    [Abstract] [Full Text] [Related]

  • 16. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
    Topçu M, Tan H, Yalnizoğlu D, Usubütün A, Saatçi I, Aynaci M, Anlar B, Topaloğlu H, Turanli G, Köse G, Aysun S.
    Turk J Pediatr; 2004 May 03; 46(1):1-10. PubMed ID: 15074367
    [Abstract] [Full Text] [Related]

  • 17. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.
    Clin Genet; 2008 Sep 03; 74(3):213-22. PubMed ID: 18684116
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.
    Nat Genet; 1998 Jul 07; 19(3):286-8. PubMed ID: 9662406
    [Abstract] [Full Text] [Related]

  • 20. Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
    Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S.
    Neurobiol Dis; 2014 May 07; 65():12-24. PubMed ID: 24423645
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 19.