230 related articles for article (PubMed ID: 8213822)
21. [Muscular biopsy in ceroid lipofuscinosis: 3 case reports of juvenile form].
Pego R; Amigo MC; Escriche D; Romero J; Navarro C
Rev Neurol; 1995; 23(121):627-31. PubMed ID: 8597983
[TBL] [Abstract][Full Text] [Related]
22. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
Yan W; Boustany RM; Konradi C; Ozelius L; Lerner T; Trofatter JA; Julier C; Breakefield XO; Gusella JF; Haines JL
Am J Hum Genet; 1993 Jan; 52(1):89-95. PubMed ID: 8434611
[TBL] [Abstract][Full Text] [Related]
23. The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
Miller JN; Kovács AD; Pearce DA
Hum Mol Genet; 2015 Jan; 24(1):185-96. PubMed ID: 25205113
[TBL] [Abstract][Full Text] [Related]
24. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
Zhong N; Moroziewicz DN; Ju W; Jurkiewicz A; Johnston L; Wisniewski KE; Brown WT
Genet Med; 2000; 2(6):312-8. PubMed ID: 11339651
[TBL] [Abstract][Full Text] [Related]
25. The neuronal ceroid-lipofuscinoses. Recent advances.
Goebel HH; Sharp JD
Brain Pathol; 1998 Jan; 8(1):151-62. PubMed ID: 9458173
[TBL] [Abstract][Full Text] [Related]
26. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.
Elleder M; Franc J; Kraus J; Nevsímalová S; Sixtová K; Zeman J
Eur J Paediatr Neurol; 1997; 1(4):109-14. PubMed ID: 10728204
[TBL] [Abstract][Full Text] [Related]
27. Neuronal ceroid lipofuscinoses: research update.
Wisniewski KE; Kida E; Connell F; Zhong N
Neurol Sci; 2000; 21(3 Suppl):S49-56. PubMed ID: 11073228
[TBL] [Abstract][Full Text] [Related]
28. Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis.
Gardiner RM
Am J Med Genet; 1992 Feb; 42(4):539-41. PubMed ID: 1351702
[TBL] [Abstract][Full Text] [Related]
29. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
Koul R; Al-Futaisi A; Ganesh A; Rangnath Bushnarmuth S
J Child Neurol; 2007 May; 22(5):555-9. PubMed ID: 17690061
[TBL] [Abstract][Full Text] [Related]
30. Neuronal ceroid lipofuscinoses: classification and diagnosis.
Wisniewski KE; Kida E; Golabek AA; Kaczmarski W; Connell F; Zhong N
Adv Genet; 2001; 45():1-34. PubMed ID: 11332767
[TBL] [Abstract][Full Text] [Related]
31. The neuronal ceroid lipofuscinoses.
Dyken PR
J Child Neurol; 1989 Jul; 4(3):165-74. PubMed ID: 2671115
[TBL] [Abstract][Full Text] [Related]
32. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses.
Zhong NA; Wisniewski KE; Ju W; Moroziewicz DN; Jurkiewicz A; McLendon L; Jenkins EC; Brown WT
Genet Test; 2000; 4(3):243-8. PubMed ID: 11142754
[TBL] [Abstract][Full Text] [Related]
33. Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.
Gerber S; Odent S; Postel-Vinay A; Janin N; Dufier JL; Munnich A; Frezal J; Kaplan J
J Med Genet; 1994 Mar; 31(3):222-3. PubMed ID: 8014971
[TBL] [Abstract][Full Text] [Related]
34. Reconsideration of the classification of the neuronal ceroid-lipofuscinoses.
Dyken PR
Am J Med Genet Suppl; 1988; 5():69-84. PubMed ID: 3146331
[TBL] [Abstract][Full Text] [Related]
35. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
Shematorova EK; Shpakovski GV
Int J Mol Sci; 2020 Oct; 21(21):. PubMed ID: 33137890
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
Miller JN; Pearce DA
J Child Neurol; 2013 Sep; 28(9):1106-11. PubMed ID: 23857568
[TBL] [Abstract][Full Text] [Related]
38. Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2).
Sharp JD; Wheeler RB; Savukoski M; Kestila M; Järvelä IE; Peltonen L; Eiberg H; Gardiner RM; Williams R
Eur J Hum Genet; 1995; 3(5):326-8. PubMed ID: 8556308
[No Abstract] [Full Text] [Related]
39. Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S; Stránecký V; Emes RD; Mitchison HM
Biochim Biophys Acta; 2013 Nov; 1832(11):1831-41. PubMed ID: 23274885
[TBL] [Abstract][Full Text] [Related]
40. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
Taschner PE; de Vos N; Catsman-Berrevoets CE; van Duinen SG; Lindhout D; Breuning MH
Am J Med Genet; 1995 Jun; 57(2):338-43. PubMed ID: 7668359
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
