1 | CLN6, KUFS
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| Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6.
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| Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.
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| Am J Hum Genet 88(5):566-73. Epub 2011 May 5. 2011
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2 | CLN6
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| Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
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| 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.
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| Biochem Biophys Res Commun 379(4):892-7. Epub 2009 Jan 7.
2009
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3 | CLN1, CLN10, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8
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| The function of CLN3P, the Batten disease protein.
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| Rakheja D, Narayan SB, Bennett MJ.
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| Mol Genet Metab 93(3):269-74. Review. No abstract available. Erratum in: Mol Genet Metab. 2008 Jun;94(2):270.
2008
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4 | CLN1, CLN2, CLN3, CLN5, CLN6, CLN8, PPT2
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| Neuronal ceroid lipofuscinosis: a common pathway?
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| Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM.
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| Pediatr Res 61(2):146-52. 2007
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5 | CLN6
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| Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.
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| Teixeira CA, Lin S, Mangas M, Quinta R, Bessa CJ, Ferreira C, Sa Miranda MC, Boustany RM, Ribeiro MG.
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| Biochim Biophys Acta 1762(7):637-46. Epub 2006 Jun 8. 2006
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6 | CLN6
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| Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
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| Siintola E, Topcu M, Kohlschutter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.
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| Clin Genet 68(2):167-73. 2005
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7 | CLN6
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| CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
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| Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF.
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| Exp Cell Res 298(2):399-406. 2004
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8 | CLN6,CLN7,CLN8
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| Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
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| Ranta S, Topcu M, Tegelberg S, Tan H, Ustubutun A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.
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| Hum Mutat 23(4):300-5. 2004
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9 | CLN2, CLN6, TPP1
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| Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
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| Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME.
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| Am J Hum Genet 70(2):324-35. 2002
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10 | CLN6
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| The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
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| Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE.
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| Am J Hum Genet 70(2):537-42. 2002
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11 | CLN6
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| Progress toward the cloning of CLN6, the gene underlying a variant LINCL.
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| Auger KJ, et al.
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| Mol Genet Metab 66(4):332-6. 1999
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12 | CLN6
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| Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.
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| Sharp JD, et al.
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| Mol Genet Metab 66(4):329-31. 1999
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13 | CLN2, CLN6, TPP1
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| Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
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| Sharp JD, et al.
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| Hum Mol Genet 6 : 591-595. 1997
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