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Journal Abstract Search

284 related items for PubMed ID: 12673792

  • 1. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.
    Hum Mutat; 2003 May; 21(5):502-8. PubMed ID: 12673792
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  • 2. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
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  • 3. 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
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  • 4. 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 Aug; 15(3):273-9. PubMed ID: 10679943
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  • 5. 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
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  • 7. 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
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  • 12. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
    Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.
    Nat Genet; 1999 Oct; 23(2):233-6. PubMed ID: 10508524
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  • 14. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
    Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A.
    Orphanet J Rare Dis; 2022 Jan 10; 17(1):13. PubMed ID: 35012600
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  • 19. Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.
    Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R.
    J Child Neurol; 2011 May 10; 26(5):625-9. PubMed ID: 21447811
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