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Journal Abstract Search

186 related items for PubMed ID: 27844444

  • 1. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
    Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C.
    Acta Neurol Belg; 2017 Mar; 117(1):159-167. PubMed ID: 27844444
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
    Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S.
    Brain Dev; 2016 Mar; 38(3):341-5. PubMed ID: 26443629
    [Abstract] [Full Text] [Related]

  • 4. 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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  • 5. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
    Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.
    Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404
    [Abstract] [Full Text] [Related]

  • 6. 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; 7(2):111-7. PubMed ID: 16570191
    [Abstract] [Full Text] [Related]

  • 7. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
    Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.
    Eur J Paediatr Neurol; 2001 May; 5 Suppl A():21-7. PubMed ID: 11589000
    [Abstract] [Full Text] [Related]

  • 8. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.
    Clin Genet; 2010 Jan; 77(1):79-85. PubMed ID: 19807737
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
    Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.
    Hum Mutat; 2009 Jul; 30(7):1104-16. PubMed ID: 19431184
    [Abstract] [Full Text] [Related]

  • 11. 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; 81(1):136-46. PubMed ID: 17564970
    [Abstract] [Full Text] [Related]

  • 12. 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; 120(3):269-277. PubMed ID: 28024876
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
    Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A.
    Neurogenetics; 2009 Feb; 10(1):73-7. PubMed ID: 18850119
    [Abstract] [Full Text] [Related]

  • 14. 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 Feb; 46(1):1-10. PubMed ID: 15074367
    [Abstract] [Full Text] [Related]

  • 15. The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
    Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J.
    Neuromolecular Med; 2019 Jun; 21(2):160-169. PubMed ID: 30919163
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