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8. First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi. Conradi NG; Uvebrant P; Hökegård KH; Wahlström J; Mellqvist L Prenat Diagn; 1989 Apr; 9(4):283-7. PubMed ID: 2541423 [TBL] [Abstract][Full Text] [Related]
9. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. de los Reyes E; Dyken PR; Phillips P; Brodsky M; Bates S; Glasier C; Mrak RE J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383 [TBL] [Abstract][Full Text] [Related]
10. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). Hofman IL; Taschner PE Am J Med Genet; 1995 Jun; 57(2):165-7. PubMed ID: 7668323 [TBL] [Abstract][Full Text] [Related]
11. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. O'Rawe A; Mitchison HM; Williams R; Wheeler R; Andermann E; Andermann F; Hart YM; Martin JJ; Philippart M; Stephenson JB; Gardiner RM; Mole SE Neuropediatrics; 1997 Feb; 28(1):21-2. PubMed ID: 9151314 [TBL] [Abstract][Full Text] [Related]
12. Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report. Boldrini R; Biselli R; Santorelli FM; Bosman C Ultrastruct Pathol; 2001; 25(1):51-8. PubMed ID: 11297320 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Mitchison HM; Hofmann SL; Becerra CH; Munroe PB; Lake BD; Crow YJ; Stephenson JB; Williams RE; Hofman IL; Taschner PE; Martin JJ; Philippart M; Andermann E; Andermann F; Mole SE; Gardiner RM; O'Rawe AM Hum Mol Genet; 1998 Feb; 7(2):291-7. PubMed ID: 9425237 [TBL] [Abstract][Full Text] [Related]
14. Prenatal ultrastructural diagnosis in the neuronal ceroid-lipofuscinoses. Goebel HH Pathol Res Pract; 1994 Aug; 190(7):728-33. PubMed ID: 7808971 [TBL] [Abstract][Full Text] [Related]
15. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Wisniewski KE; Rapin I; Heaney-Kieras J Am J Med Genet Suppl; 1988; 5():27-46. PubMed ID: 3146325 [TBL] [Abstract][Full Text] [Related]