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4. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 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 Am J Hum Genet; 2011 May; 88(5):566-73. PubMed ID: 21549341 [TBL] [Abstract][Full Text] [Related]
5. Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease. Zini A; Cenacchi G; Nichelli P; Zunarelli E; Todeschini A; Meletti S Neurology; 2008 Nov; 71(21):1709-12. PubMed ID: 19015486 [TBL] [Abstract][Full Text] [Related]
6. Novel compound heterozygous mutations causing Kufs disease type B. Wang C; Xu H; Yuan Y; Lian Y; Xie N; Ming L Int J Neurosci; 2018 Jun; 128(6):573-576. PubMed ID: 29120254 [TBL] [Abstract][Full Text] [Related]
7. [A case of adult neuronal ceroid lipofuscinosis type A]. Fujita N; Kimura T; Matsubara N; Tabe H; Tanaka K Rinsho Shinkeigaku; 1999 Apr; 39(4):478-80. PubMed ID: 10391979 [TBL] [Abstract][Full Text] [Related]
8. [Adult neuronal ceroid lipofuscinosis (Kufs disease)--a rare cause of dementia]. Kozian R; Kiszka T; Peter K Psychiatr Prax; 1994 Nov; 21(6):235-7. PubMed ID: 7824670 [TBL] [Abstract][Full Text] [Related]
9. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Smith KR; Dahl HH; Canafoglia L; Andermann E; Damiano J; Morbin M; Bruni AC; Giaccone G; Cossette P; Saftig P; Grötzinger J; Schwake M; Andermann F; Staropoli JF; Sims KB; Mole SE; Franceschetti S; Alexander NA; Cooper JD; Chapman HA; Carpenter S; Berkovic SF; Bahlo M Hum Mol Genet; 2013 Apr; 22(7):1417-23. PubMed ID: 23297359 [TBL] [Abstract][Full Text] [Related]
11. Autosomal dominant Kufs' disease: a cause of early onset dementia. Josephson SA; Schmidt RE; Millsap P; McManus DQ; Morris JC J Neurol Sci; 2001 Jul; 188(1-2):51-60. PubMed ID: 11489285 [TBL] [Abstract][Full Text] [Related]
12. Adult type of neuronal ceroid lipofuscinosis. Martin JJ Dev Neurosci; 1991; 13(4-5):331-8. PubMed ID: 1817040 [TBL] [Abstract][Full Text] [Related]
13. [Klüver-Bucy syndrome as the initial symptom of adult-type ceroid lipofuscinosis (Kufs' disease)]. Alonso-Navarro H; Jiménez-Jiménez FJ; Puertas-Muñoz I; Rábano J; de Yébenes JG; Sarasa-Corral JL Rev Neurol; 2005 Jan 16-31; 40(2):93-8. PubMed ID: 15712163 [TBL] [Abstract][Full Text] [Related]
15. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Wisneiwski KE; Kida E; Patxot OF; Connell F Am J Med Genet; 1992 Feb; 42(4):525-32. PubMed ID: 1319116 [TBL] [Abstract][Full Text] [Related]
16. [Kufs-disease; a rare cause of early-onset dementia]. Schreiner R; Becker I; Wiegand MH Nervenarzt; 2000 May; 71(5):411-5. PubMed ID: 10846718 [TBL] [Abstract][Full Text] [Related]
17. [Dementia and psychiatric disorders in Kufs disease]. Charles N; Vighetto A; Pialat J; Confavreux C; Aimard G Rev Neurol (Paris); 1990; 146(12):752-6. PubMed ID: 2291038 [TBL] [Abstract][Full Text] [Related]
18. Familial Kufs' disease presenting as a progressive myoclonic epilepsy. Sadzot B; Reznik M; Arrese-Estrada JE; Franck G J Neurol; 2000 Jun; 247(6):447-54. PubMed ID: 10929274 [TBL] [Abstract][Full Text] [Related]
19. Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A. Özkara Ç; Gündüz A; Coşkun T; Alpaslan BG; Zeydan B; Delil Ş; Muona M; Lehesjoki AE; Kızıltan ME Epileptic Disord; 2017 Jun; 19(2):147-151. PubMed ID: 28587997 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]