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7. 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]
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12. 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; 5 Suppl A():21-7. PubMed ID: 11589000 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
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18. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Sharp JD; Wheeler RB; Lake BD; Savukoski M; Järvelä IE; Peltonen L; Gardiner RM; Williams RE Hum Mol Genet; 1997 Apr; 6(4):591-5. PubMed ID: 9097964 [TBL] [Abstract][Full Text] [Related]
19. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. Craiu D; Dragostin O; Dica A; Hoffman-Zacharska D; Gos M; Bastian AE; Gherghiceanu M; Rolfs A; Nahavandi N; Craiu M; Iliescu C Eur J Paediatr Neurol; 2015 Jan; 19(1):78-86. PubMed ID: 25439737 [TBL] [Abstract][Full Text] [Related]