398 related articles for article (PubMed ID: 10508524)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
Lonka L; Salonen T; Siintola E; Kopra O; Lehesjoki AE; Jalanko A
J Neurosci Res; 2004 Jun; 76(6):862-71. PubMed ID: 15160397
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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; 19(3):286-8. PubMed ID: 9662406
[TBL] [Abstract][Full Text] [Related]
5. The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.
Lonka L; Aalto A; Kopra O; Kuronen M; Kokaia Z; Saarma M; Lehesjoki AE
BMC Neurosci; 2005 Apr; 6():27. PubMed ID: 15826318
[TBL] [Abstract][Full Text] [Related]
6. Northern epilepsy, a new member of the NCL family.
Ranta S; Lehesjoki AE
Neurol Sci; 2000; 21(3 Suppl):S43-7. PubMed ID: 11073227
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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; 15(3):273-9. PubMed ID: 10679943
[TBL] [Abstract][Full Text] [Related]
10. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
Katz ML; Khan S; Awano T; Shahid SA; Siakotos AN; Johnson GS
Biochem Biophys Res Commun; 2005 Feb; 327(2):541-7. PubMed ID: 15629147
[TBL] [Abstract][Full Text] [Related]
11. 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
[TBL] [Abstract][Full Text] [Related]
12. Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis.
Galizzi G; Russo D; Deidda I; Cascio C; Passantino R; Guarneri R; Bigini P; Mennini T; Drago G; Guarneri P
Neurosci Lett; 2011 Jan; 488(3):258-62. PubMed ID: 21094208
[TBL] [Abstract][Full Text] [Related]
13. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
Lonka L; Kyttälä A; Ranta S; Jalanko A; Lehesjoki AE
Hum Mol Genet; 2000 Jul; 9(11):1691-7. PubMed ID: 10861296
[TBL] [Abstract][Full Text] [Related]
14. 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; 50(6):491-501. PubMed ID: 21917311
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study.
Hermansson M; Käkelä R; Berghäll M; Lehesjoki AE; Somerharju P; Lahtinen U
J Neurochem; 2005 Nov; 95(3):609-17. PubMed ID: 16086686
[TBL] [Abstract][Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
Melville SA; Wilson CL; Chiang CS; Studdert VP; Lingaas F; Wilton AN
Genomics; 2005 Sep; 86(3):287-94. PubMed ID: 16033706
[TBL] [Abstract][Full Text] [Related]
19. Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
Klockars T; Savukoski M; Isosomppi J; Peltonen L
Mol Genet Metab; 1999 Apr; 66(4):324-8. PubMed ID: 10191122
[TBL] [Abstract][Full Text] [Related]
20. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Pineda-Trujillo N; Cornejo W; Carrizosa J; Wheeler RB; Múnera S; Valencia A; Agudelo-Arango J; Cogollo A; Anderson G; Bedoya G; Mole SE; Ruíz-Linares A
Neurology; 2005 Feb; 64(4):740-2. PubMed ID: 15728307
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
