SCOPUS 정보 검색 플랫폼

Current Molecular Medicine

Volumn 2, Issue 5, 2002, Pages 423-437

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

(6) Hofmann, Sandra L a Atashband, Armita a Cho, Steve K a Das, Amit K a Gupta, Praveena a Lu, Jui Yun a

a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FATTY ACID; LYSOSOME ENZYME; PALMITOYL PROTEIN THIOESTERASE; TRIPEPTIDYL AMINOPEPTIDASE 1; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; PEPTIDE HYDROLASE; PPT1 PROTEIN, HUMAN; PROTEINASE; TRIPEPTIDYL PEPTIDASE I; TRIPEPTIDYL-PEPTIDASE I;

CHEMICAL ANALYSIS; CLINICAL FEATURE; CLINICAL RESEARCH; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID METABOLISM; HUMAN; LYSOSOME STORAGE DISEASE; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PROTEIN METABOLISM; REVIEW; ADOLESCENT; ADULT; CHILD; ELECTRON MICROSCOPY; ENZYMOLOGY; GENETIC POLYMORPHISM; GENETICS; INFANT; LEUKOCYTE; MUTATION; PATHOLOGY; PRESCHOOL CHILD; ULTRASTRUCTURE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; HUMAN; INFANT; LEUKOCYTES; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MUTATION; NEURONAL CEROID-LIPOFUSCINOSIS; PEPTIDE HYDROLASES; POLYMORPHISM (GENETICS); SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; ENDOPEPTIDASES; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES; POLYMORPHISM, GENETIC;

EID: 0035990987 PISSN: 15665240 EISSN: None Source Type: Journal
DOI: 10.2174/1566524023362294 Document Type: Review

Times cited : (33)

References (147)

1
- 0014592170
- (1969) Pediatrics , vol.44 , pp. 570-583
- Zeman, W.¹ Dyken, P.²

2
- 0009782043
- (1896) NY. Med. J , vol.63 , pp. 697-703
- Sachs, B.¹

3
- 0000164319
- (Batten's Disease) D. Armstrong, et al. (Elsevier Biomedical Press 1982, Amsterdam), pp. 17-19. Translated from: Eyr et medicinsk Tidskrift
- (1826) Ceroid-Lipofuscinosis , vol.1 , pp. 347-352
- Stengel, C.¹

4
- 0001509336
- (1903) Trans. Ophthalmol. Soc. UK , vol.23 , pp. 386-390
- Batten, F.E.¹

5
- 0000628263
- (1923) Zentralbl. Gesamte. Ophthal , vol.10 , pp. 161-208
- Spielmeyer, W.¹

6
- 0001878169
- (1938) Mschr. Psychiat. Neurol , vol.99 , pp. 74-80
- Hallervorden, J.¹

7
- 0001237639
- (1908) Sbom Lek , vol.13 , pp. 165-196
- Jansky, J.¹

8
- 0002534186
- (1913) Dtsch. Z. Nervenheilk , vol.50 , pp. 7-29
- Bielschowsky, M.¹

9
- 51849173016
- (1925) Z. Ges. Neurol. Psychiatr , vol.95 , pp. 169-188
- Kufs, H.¹

10
- 0015596171
- (1973) J. Neurol. Sci , vol.18 , pp. 269-285
- Haltia, M.¹ Rapola, J.² Santavuori, P.³ Keranen, A.⁴

11
- 0000665299
- eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., Childs, B. & Vogelstein, B. (McGraw-Hill, New York)
- (2001) The Neuronal Ceroid Lipofuscinoses , vol.8 , pp. 3877-3894
- Hofmann, S.L.¹ Peltonen, L.²

12
- 0028879016
- (1995) J. Child. Neurol , vol.10 , pp. 424-437
- Goebel, H.H.¹

13
- 0030833657
- (1997) Neuropediatrics , vol.28 , pp. 9-11
- Hellsten, E.¹ Vesa, J.² Jalanko, A.³ Peltonen, L.⁴

14
- 0029153109
- (1995) Nature , vol.376 , pp. 584-587
- Vesa, J.¹ Hellsten, E.² Verkruyse, L.A.³ Camp, L.A.⁴ Rapola, J.⁵ Santavuori, P.⁶ Hofmann, S.L.⁷ Peltonen, L.⁸

15
- 0029147298
- The International Batten Disease Consortium
- (1995) Cell , vol.82 , pp. 949-957

16
- 0031803649
- (1998) Nature Genet , vol.19 , pp. 286-288
- Savukoski, M.¹ Klockars, T.² Holmber, V.³ Santavuori, P.⁴ Lander, E.S.⁵ Peltonen, L.⁶

17
- 0032831071
- (1999) Nat. Genet , vol.23 , pp. 233-236
- Ranta, S.¹ Zhang, Y.² Ross, B.³ Lonka, L.⁴ Takkunen, E.⁵ Messer, A.⁶ Sharp, J.⁷ Wheeler, R.⁸ Kusumi, K.⁹ Mole, S.¹⁰ Liu, W.¹¹ Soares, M.B.¹² Bonaldo, M.F.¹³ Hirvasniemi, A.¹⁴ de la Chapelle, A.¹⁵ Gilliam, T.C.¹⁶ Lehesjoki, A.E.¹⁷

18
- 0033533048
- (1999) Lancet , vol.354 , pp. 443-445
- Mole, S.E.¹

19
- 0029782734
- (1996) J. Biol. Chem , vol.271 , pp. 19191-19198
- Sleat, D.E.¹ Sohar, I.² Lackland, H.³ Majercak, J.⁴ Lobel, P.⁵

20
- 0030866233
- (1997) Science , vol.277 , pp. 1802-1805
- Sleat, D.E.¹ Donnelly, R.J.² Lackland, H.³ Liu, C.G.⁴ Sohar, I.⁵ Pullarkat, R.K.⁶ Lobel, P.⁷

21
- 0030937327
- (1997) Hum. Mol. Genet , vol.6 , pp. 591-595
- Sharp, J.D.¹ Wheeler, R.B.² Lake, B.D.³ Savukoski, M.⁴ Jarvela, I.E.⁵ Peltonen, L.⁶ Gardiner, R.M.⁷ Williams, R.E.⁸

22
- 0016174506
- (1974) Developmental Medicine and Child Neurology , vol.16 , pp. 644-653
- Santavuori, P.¹ Haltia, M.² Rapola, J.³

23
- 0030876737
- (1997) Dev. Med. Child. Neurol , vol.39 , pp. 456-463
- Vanhanen, S.L.¹ Sainio, K.² Lappi, M.³ Santavuori, P.⁴

24
- 0028843964
- (1995) J. Child. Neurol , vol.10 , pp. 444-450
- Vanhanen, S.L.¹ Raininko, R.² Autti, T.³ Santavuori, P.⁴

25
- 0028807591
- (1995) J. Child. Neurol , vol.10 , pp. 438-443
- Vanhanen, S.L.¹ Raininko, R.² Santavuori, P.³ Autti, T.⁴ Haltia, M.⁵

26
- 0028101284
- (1994) AJNR Am. J. Neuroradiol , vol.15 , pp. 1443-1453
- Vanhanen, S.L.¹ Raininko, R.² Santavuori, P.³

27
- 0027225696
- (1993) J. Inherit Metab Dis , vol.16 , pp. 241-244
- Kohlschutter, A.¹ Gardiner, R.M.² Goebel, H.H.³

28
- 0002473397
- eds. Armstrong, d., Koppang, N. & Rider, J. A. (Elsevier Biomedical Press, Amsterdam)
- (1982) Ceroid-Lipofuscinosis (Batten Disease) , pp. 61-70
- Harden, A.¹ Pampiglione, G.²

29
- 0017686221
- (1977) J. Neurol. Neurosurg. Psychiatry , vol.40 , pp. 323-330
- Pampiglione, G.¹ Harden, A.²

30
- 0018645886
- (1979) Eur. Neurol , vol.18 , pp. 234-242
- Tackmann, W.¹ Kuhlendahl, D.²

31
- 0033781713
- (2000) Neurol. Sci , vol.21
- Veneselli, E.¹ Biancheri, R.² Perrone, M.V.³ Buoni, S.⁴ Fois, A.⁵

32
- 0033774116
- (2000) Neurol. Sci , vol.21
- Binelli, S.¹ Canafoglia, L.² Panzica, F.³ Pozzi, A.⁴ Franceschetti, S.⁵

33
- 0030298413
- (1996) Pediatr. Neurol , vol.15 , pp. 344-347
- Petersen, B.¹ Handwerker, M.² Huppertz, H.I.³

34
- 0026535709
- (1992) Pediatr. Neurol , vol.8 , pp. 121-126
- Autti, T.¹ Raininko, R.² Launes, J.³ Nuutila, A.⁴ Santavuori, P.⁵

35
- 0029947923
- (1996) Neuroradiology , vol.38 , pp. 476-482
- Autti, T.¹ Raininko, R.² Vanhanen, S.L.³ Santavuori, P.⁴

36
- 0030830571
- (1997) Curr. Opin. Neurol , vol.10 , pp. 519-524
- Autti, T.¹ Raininko, R.² Vanhanen, S.L.³ Santavuori, P.⁴

37
- 0030962978
- (1997) Neuroradiology , vol.39 , pp. 371-377
- Autti, T.¹ Raininko, R.² Santavuori, P.³ Vanhanen, S.L.⁴ Poutanen, V.P.⁵ Haltia, M.⁶

38
- 0033779006
- (2000) Neurol. Sci , vol.21
- D'Incerti, L.¹

39
- 0035964220
- (2001) Neurology , vol.57 , pp. 576-581
- Wisniewski, K.E.¹ Zhong, N.² Philippart, M.³

40
- 0032807058
- (1999) Mol. Genet. Metab , vol.66 , pp. 240-244
- van Diggelen, O.P.¹ Keulemans, J.L.² Winchester, B.³ Hofman, I.L.⁴ Vanhanen, S.L.⁵ Santavuori, P.⁶ Voznyi, Y.V.⁷

41
- 0033013849
- (1999) Prenat Diagn , vol.19 , pp. 559-562
- de Vries, B.B.¹ Kleijer, W.J.² Keulemans, J.L.³ Voznyi, Y.V.⁴ Franken, P.F.⁵ Eurlings, M.C.⁶ Galjaard, R.J.⁷ Losekoot, M.⁸ Catsman-Berrevoets, C.E.⁹ Breuning, M.H.¹⁰ Taschner, P.E.¹¹ van Diggelen, O.P.¹²

42
- 0009756906
- (1997) Neuropediatrics , vol.28 , pp. 63-66
- Syvanen, A.C.¹ Jarvela, I.² Paunio, T.³ Vesa, J.⁴

43
- 0033910620
- (2000) Clin. Chem , vol.46 , pp. 1005-1008
- Sohar, I.¹ Lin, L.² Lobel, P.³

44
- 0032546626
- 1384
- (1998) Biochim. Biophys. Acta , pp. 233-242
- Vines, D.¹ Warburton, M.J.²

45
- 0032778867
- (1999) J. Neurochem , vol.73 , pp. 700-711
- Sohar, I.¹ Sleat, D.E.² Jadot, M.³ Lobel, P.⁴

46
- 0033001893
- (1999) Clin. Chim. Acta , vol.281 , pp. 169-176
- Junaid, M.A.¹ Sklower, B.S.² Winiewski, K.E.³ Pullarkat, R.K.⁴

47
- 0034921176
- (2001) Electrophoresis , vol.22 , pp. 2343-2350
- Viglio, S.¹ Marchi, E.² Wisniewski, K.³ Casado, B.⁴ Cetta, G.⁵ Iadarola, P.⁶

48
- 0033960766
- (2000) Ann. Neurol , vol.47 , pp. 254-257
- Berry-Kravis, E.¹ Sleat, D.E.² Sohar, I.³ Meyer, P.⁴ Donnelly, R.⁵ Lobel, P.⁶

49
- 0035106898
- (2001) Prenat. Diagn , vol.21 , pp. 99-101
- Kleijer, W.J.¹ van Diggelen, O.P.² Keulemans, J.L.³ Losekoot, M.⁴ Garritsen, V.H.⁵ Stroink, H.⁶ Majoor-Krakauer, D.⁷ Franken, P.F.⁸ Eurlings, M.C.⁹ Tashner, P.E.¹⁰ Los, F.J.¹¹ Galjaard, R.J.¹²

50
- 0031901120
- (1998) Bone Marrow Transplant , vol.21 , Issue.SUPPL. 2
- Hoogerbrugge, P.M.¹ Valerio, D.²

51
- 0029048735
- (1995) Am. J. Med. Genet , vol.57 , pp. 369-373
- Lake, B.D.¹ Henderson, D.C.² Oakhill, A.³ Vellodi, A.⁴

52
- 0030833660
- (1997) Neuropediatrics , vol.28 , pp. 80-81
- Lake, B.D.¹ Steward, C.G.² Oakhill, A.³ Wilson, J.⁴ Perham, T.G.⁵

53
- 0035044121
- (2001) Nat. Med , vol.7 , pp. 478-484
- Zhang, Z.¹ Butler, J.D.² Levin, S.W.³ Wisniewski, K.E.⁴ Brooks, S.S.⁵ Mukherjee, A.B.⁶

54
- 0029788513
- (1996) Proc. Natl. Acad. Sci. U S A , vol.93 , pp. 10046-10050
- Lu, J.Y.¹ Verkruyse, L.A.² Hofmann, S.L.³

55
- 0029865229
- (1996) J. Inher. Metab. Dis , vol.19 , pp. 65-75
- Broyer, M.¹ Tete, M.J.² Guest, G.³ Bertheleme, J.P.⁴ Labrousse, F.⁵ Poisson, M.⁶

56
- 0000164289
- eds. Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D. (McGraw-Hill, New York)
- (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 3763-3797
- Gahl, W.A.¹ Schneider, J.A.² Aula, P.P.³

57
- 0035964220
- (2001) Neurology , vol.57 , pp. 576-581
- Wisniewski, K.E.¹

58
- 0030874173
- (1997) Neuropediatrics , vol.28 , pp. 77-79
- Aberg, L.¹ Heiskala, H.² Vanhanen, S.L.³ Himberg, J.J.⁴ Hosking, G.⁵ Yuen, A.⁶ Santavuori, P.⁷

59
- 0009782616
- (2001) Adv. Genet , vol.45 , pp. 225-236
- Wisniewski, K.E.¹ Zhong, N.²

60
- 0032007076
- (1998) Pediatr. Neurol , vol.18 , pp. 119-123
- Wisniewski, K.E.¹ Connell, F.² Kaczmarski, W.³ Kaczmarski, A.⁴ Siakotos, A.⁵ Becerra, C.R.⁶ Hofmann, S.L.⁷

61
- 6844237002
- (1998) Hum. Mol. Genet , vol.7 , pp. 291-297
- Mitchison, H.M.¹ Hofmann, S.L.² Becerra, C.H.³ Munroe, P.B.⁴ Lake, B.D.⁵ Crow, Y.J.⁶ Stephenson, J.B.⁷ Williams, R.E.⁸ Hofman, I.L.⁹ Taschner, P.E.M.¹⁰ Martin, J.J.¹¹ Philippart, M.¹² Andermann, E.¹³ Andermann, F.¹⁴ Mole, S.E.¹⁵ Gardiner, R.M.¹⁶ O'Rawe, A.M.¹⁷

62
- 0034659833
- (2000) EMBO J , vol.19 , pp. 2786-2792
- Tyynela, J.¹ Sohar, I.² Sleat, D.E.³ Gin, R.M.⁴ Donnelly, R.J.⁵ Baumann, M.⁶ Haltia, M.⁷ Lobel, P.⁸

63
- 0030739514
- (1997) Neuropediatrics , vol.28 , pp. 27-30
- Hofmann, S.L.¹ Lee, L.A.² Lu, J.Y.³ Verkruyse, L.A.⁴

64
- 0027518208
- (1993) J. Biol. Chem , vol.268 , pp. 22566-22574
- Camp, L.A.¹ Hofmann, S.L.²

65
- 0027989872
- (1994) J. Biol. Chem , vol.269 , pp. 23212-23219
- Camp, L.A.¹ Verkruyse, L.A.² Afendis, S.J.³ Slaughter, C.A.⁴ Hofmann, S.L.⁵

66
- 0029042397
- (1995) Meth. Enzymol , vol.250 , pp. 336-347
- Camp, L.A.¹ Hofmann, S.L.²

67
- 0034712969
- (2000) Proc. Natl. Acad. Sci. U S A , vol.97 , pp. 4573-4578
- Bellizzi J.J. III¹ Widom, J.² Kemp, C.³ Lu, J.Y.⁴ Das, A.K.⁵ Hofmann, S.L.⁶ Clardy, J.⁷

68
- 0032546946
- (1998) J. Biol. Chem , vol.273 , pp. 15830-15837
- Duncan, J.A.¹ Gilman, A.G.²

69
- 0034604567
- (2000) J. Biol. Chem , vol.275 , pp. 23847-23851
- Das, A.K.¹ Bellizzi J.J. III² Tandel, S.³ Biehl, E.⁴ Clardy, J.⁵ Hofmann, S.L.⁶

70
- 0030009044
- (1996) J. Biol. Chem , vol.271 , pp. 15831-15836
- Verkruyse, L.A.¹ Hofmann, S.L.²

71
- 0029843717
- (1996) EMBO J , vol.15 , pp. 5240-5245
- Hellsten, E.¹ Vesa, J.² Olkkonen, V.M.³ Jalanko, A.⁴ Peltonen, L.⁵

72
- 0030345815
- eds. Lloyd, J. B. and Mason, R. W. (Plenum Press, New York)
- (1996) Organic of Lysosoomal Proteins , vol.27 , pp. 15-49
- Braulke, T.¹

73
- 0035910463
- (2001) J. Biol. Chem , vol.276 , pp. 2249-2255
- Lin, L.¹ Sohar, I.² Lackland, H.³ Lobel, P.⁴

74
- 0031973892
- (1998) Brain Pathol , vol.8 , pp. 79-100
- Kolter, T.¹ Sandhoff, K.²

75
- 26644438010
- in press
- (2001) J. Biol. Chem
- Fernandez, F.¹ Rush, J.S.² Toke, D.A.³ Han, G.-S.⁴ Quinn, J.⁵ Carman, G.M.⁶ Choi, J.-Y.⁷ Voelker, D.R.⁸ Aebi, M.⁹ Waechter, C.J.¹⁰

76
- 0024254716
- (1988) Am. J. Med. Genet , vol.5 , Issue.SUPPL. , pp. 233-242
- Wolfe, L.S.¹ Gauthier, S.² Haltia, M.³ Palo, J.⁴

77
- 0030871064
- (1997) J. Biol. Chem , vol.272 , pp. 27456-27463
- Soyombo, A.A.¹ Hofmann, S.L.²

78
- 0033178349
- (1999) Biochem. J , vol.341 , pp. 679-689
- Aguado, B.¹ Campbell, R.D.²

79
- 26744467456
- in press
- (2001) Proc. Natl. Acad. Sci. U.S.A
- Gupta, P.¹ Soyombo, A.A.² Atashband, A.³ Wisniewski, K.E.⁴ Shelton, J.M.⁵ Richardson, J.A.⁶ Hammer, R.E.⁷ Hofmann, S.L.⁸

80
- 0342803576
- (2000) Mol. Genet Metab , vol.69 , pp. 123-129
- Heinonen, O.¹ Kyttala, A.² Lehmus, E.³ Paunio, T.⁴ Peltonen, L.⁵ Jalanko, A.⁶

81
- 0035167162
- (2001) Hum. Mol. Genet , vol.10 , pp. 69-75
- Lehtovirta, M.¹ Kyttala, A.² Eskelinen, E.L.³ Hess, M.⁴ Heinonen, O.⁵ Jalanko, A.⁶

82
- 0033408370
- (1999) Brain Res. Dev. Brain Res , vol.118 , pp. 1-11
- Isosomppi, J.¹ Heinonen, O.² Hiltunen, J.O.³ Greene, N.D.⁴ Vesa, J.⁵ Uusitalo, A.⁶ Mitchison, H.M.⁷ Saarma, M.⁸ Jalanko, A.⁹ Peltonen, L.¹⁰

83
- 0032770135
- (1999) Mol. Genet. Metab , vol.66 , pp. 290-293
- Suopanki, J.¹ Tyynel, J.² Baumann, M.³ Haltia, M.⁴

84
- 0033538010
- (1999) Neurosci. Lett , vol.265 , pp. 53-56
- Suopanki, J.¹ Tyynela, J.² Baumann, M.³ Haltia, M.⁴

85
- 0033614430
- (1999) Gene , vol.231 , pp. 203-211
- Zhang, Z.¹ Mandal, A.K.² Wang, N.³ Keck, C.L.⁴ Zimonjic, D.B.⁵ Popescu, N.C.⁶ Mukherjee, A.B.⁷

86
- 0033818089
- (2000) Mol. Genet Metab , vol.71 , pp. 190-194
- Suopanki, J.¹ Partanen, S.² Ezaki, J.³ Baumann, M.⁴ Kominami, E.⁵ Tyynela, J.⁶

87
- 0034624913
- (2000) Neurology , vol.54 , pp. 1828-1832
- Riikonen, R.¹ Vanhanen, S.² Tyynela, J.³ Santavuori, P.⁴ Turpeinen, U.⁵

88
- 0034071270
- (2000) J. Neurochem , vol.74 , pp. 1478-1488
- Cho, S.¹ Dawson, G.²

89
- 0034667696
- (2000) J. Neurosci. Res , vol.62 , pp. 234-260
- Cho, S.¹ Dawson, P.E.² Dawson, G.³

90
- 0027224115
- (1993) FEBS Lett , vol.330 , pp. 8-12
- Tyynela, J.¹ Palmer, D.N.² Baumann, M.³ Haltia, M.⁴

91
- 0030744225
- (1997) Neuropediatrics , vol.28 , pp. 49-52
- Tyynela, J.¹ Suopanki, J.² Baumann, M.³ Haltia, M.⁴

92
- 0030585740
- (1996) Genomics , vol.34 , pp. 317-322
- Schriner, J.E.¹ Yi, W.² Hofmann, S.L.³

93
- 0033774737
- (2000) Neurol. Sci , vol.21 , Issue.3 SUPPL.
- Wisniewski, K.E.¹ Kida, E.² Connell, F.³ Zhong, N.⁴

94
- 0032527617
- (1998) J. Clin. Invest , vol.102 , pp. 361-370
- Das, A.K.¹ Becerra, C.H.R.² Yi, W.³ Lu, J.-Y.⁴ Siakotos, A.N.⁵ Wisniewski, K.E.⁶ Hofmann, S.L.⁷

95
- 0342948922
- (2000) Hum. Mutat , vol.15 , pp. 273-279
- Salonen, T.¹ Jarvela, I.² Peltonen, L.³ Jalanko, A.⁴

96
- 0034132564
- (2000) Hum. Mutat. (Online) , vol.15 , pp. 206-207
- Waliany, S.¹ Das, A.K.² Gaben, A.³ Wisniewski, K.E.⁴ Hofmann, S.L.⁵

97
- 0035875063
- (2001) Hum. Mol. Genet , vol.10 , pp. 1431-1439
- Das, A.K.¹ Lu, J.Y.² Hofmann, S.L.³

98
- 0034903333
- (2001) Ann. Neurol , vol.50 , pp. 269-272
- van Diggelen, O.P.¹ Thobois, S.² Tilikete, C.³ Zabot, M.T.⁴ Keulemans, J.L.⁵ van Bunderen, P.A.⁶ Taschner, P.E.⁷ Losekoot, M.⁸ Voznyi, Y.V.⁹

99
- 0034848598
- (2001) Mol. Cell Neurosci , vol.18 , pp. 131-140
- Salonen, T.¹ Heinonen-Kopra, O.² Vesa, J.³ Jalanko, A.⁴

100
- 0032897884
- 1429
- (1999) Biochim. Biophys. Acta , pp. 496-500
- Rawlings, N.D.¹ Barrett, A.J.²

101
- 0000188386
- eds. Scriver, C. R., Beaudet, A. L., Valled, D. and Sly, W. S. (McGraw-Hill, Inc., New York)
- (2001) Galactosialidosis , pp. 3811-3826
- d'Azzo, A.¹ Andria, G.² Strisciuglio, P.³ Galjaard, H.⁴

102
- 0035816437
- (2001) FEBS Lett , vol.500 , pp. 145-148
- Warburton, M.J.¹ Bernardini, F.²

103
- 0033198680
- (1999) Trends Biochem. Sci , vol.24 , pp. 355-359
- Tomkinson, B.¹

104
- 0034708173
- (2000) Biochem. Biophys. Res. Commun , vol.268 , pp. 904-908
- Ezaki, J.¹ Takeda-Ezaki, M.² Oda, K.³ Kominami, E.⁴

105
- 0034907976
- (2001) Acta Neuropath , vol.102 , pp. 20-26
- Kurachi, Y.¹ Oka, A.² Itoh, M.³ Mizuguchi, M.⁴ Hayashi, M.⁵ Takashima, S.⁶

106
- 0030038060
- (1996) J. Neurochem , vol.67 , pp. 677-683
- Lane, S.C.¹ Jolly, R.D.² Schmechel, D.E.³ Alroy, J.⁴ Boustany, R.M.⁵

107
- 0030833658
- (1997) Neuropediatrics , vol.28 , pp. 37-41
- Puranam, K.¹ Qian, W.H.² Nikbakht, K.³ Venable, M.⁴ Obeid, L.⁵ Hannun, Y.⁶ Boustany, R.M.⁷

108
- 0025177770
- (1990) Can. J. Vet. Res , vol.54 , pp. 15-21
- Jolly, R.D.¹ Martinus, R.D.² Shimada, A.³ Fearnley, I.M.⁴ Palmer, D.N.⁵

109
- 0025854327
- (1991) Biochem. J , vol.275 , pp. 269-272
- Hall, N.A.¹ Lake, B.D.² Dewji, N.N.³ Patrick, A.D.⁴

110
- 0033809338
- (2000) J. Biochem , vol.128 , pp. 509-516
- Ezaki, J.¹ Takeda-Ezaki, M.² Kominami, E.³

111
- 0034666116
- (2000) J. Neurosci , vol.20 , pp. 6898-6906
- Koike, M.¹ Nakanishi, H.² Saftig, P.³ Ezaki, J.⁴ Isahara, K.⁵ Ohsawa, Y.⁶ Schulz-Schaeffer, W.⁷ Watanabe, T.⁸ Waguri, S.⁹ Kametaka, S.¹⁰ Shibata, M.¹¹ Yamamoto, K.¹² Kominami, E.¹³ Peters, C.¹⁴ von Figura, K.¹⁵ Uchiyama, Y.¹⁶

112
- 0030955307
- (1997) Brain Res , vol.766 , pp. 188-194
- McGeoch, J.E.¹ Guidotti, G.²

113
- 0032796380
- (1999) Mol. Genet. Metab , vol.66 , pp. 387-392
- McGeoch, J.E.¹ Palmer, D.N.²

114
- 0034927111
- (2001) Europ. J. Paediatr. Neurol , vol.5 , pp. 147-150
- McGeoch, J.E.¹ Guidotti, G.²

115
- 0032103422
- (1998) Genomics , vol.50 , pp. 206-212
- Liu, C.G.¹ Sleat, D.E.² Donnelly, R.J.³ Lobel, P.⁴

116
- 0033813568
- (2000) Mol. Genet. Metab , vol.71 , pp. 207-211
- Chattopadhyay, S.¹ Pearce, D.A.²

117
- 0033365201
- (1999) Am. J. Hum. Genet , vol.64 , pp. 1511-1523
- Sleat, D.E.¹ Gin, R.M.² Sohar, I.³ Wisniewski, K.⁴ Sklower-Brooks, S.⁵ Pullarkat, R.K.⁶ Palmer, D.N.⁷ Lerner, T.J.⁸ Boustany, R.M.⁹ Uldall, P.¹⁰ Siakotos, A.N.¹¹ Donnelly, R.J.¹² Lobel, P.¹³

118
- 0017805075
- (1978) J. Biol. Chem , vol.253 , pp. 1954-1962
- Lin, C.Y.¹ Smith, S.²

119
- 0026510779
- (1992) Pediatr. Neurol , vol.8 , pp. 54-59
- Barohn, R.J.¹ Dowd, D.C.² Kagan-Hallet, K.S.³

120
- 0023268010
- (1987) Acta Pathol. Microbiol. Immunol. Scand. [A] , vol.95 , pp. 119-125
- Garborg, I.¹ Torvik, A.² Hals, J.³ Tangsrud, S.E.⁴ Lindemann, R.⁵

121
- 0026885539
- (1992) Pediatr. Neurol , vol.8 , pp. 315
- Wisniewski, K.E.¹ Kida, E.²

122
- 0032798746
- (1999) Mol. Genet Metab , vol.66 , pp. 329-331
- Sharp, J.D.¹ Wheeler, R.B.² Lake, B.D.³ Fox, M.⁴ Gardiner, R.M.⁵ Williams, R.E.⁶

123
- 0032799431
- (1999) Mol. Genet Metab , vol.66 , pp. 332-336
- Auger, K.J.¹ Ajene, A.² Lerner, T.³

124
- 0032775827
- (1999) Mol. Genet Metab , vol.66 , pp. 337-338
- Wheeler, R.B.¹ Sharp, J.D.² Mitchell, W.A.³ Bate, S.L.⁴ Williams, R.E.⁵ Lake, B.D.⁶ Gardiner, R.M.⁷

125
- 0034912414
- (2001) Europ. J. Paediatr. Neurol , vol.5 , pp. 21-27
- Mitchell, W.A.¹ Wheeler, R.B.² Sharp, J.D.³ Bate, S.L.⁴ Gardiner, R.M.⁵ Ranta, U.S.⁶ Lonka, L.⁷ Williams, R.E.⁸ Lehesjoki, A.E.⁹ Mole, S.E.¹⁰

126
- 0034824239
- (2001) Gene Ther , vol.8 , pp. 1291-1298
- Daly, T.M.¹ Ohlemitter, K.K.² Roberts, M.S.³ Vogler, C.A.⁴ Sands, M.S.⁵

127
- 0034986419
- (2001) Mol. Ther , vol.3 , pp. 351-358
- Frisella, W.A.¹ O'Connor, L.H.² Volgler, C.A.³ Roberts, M.⁴ Walkley, S.⁵ Levy, B.⁶ Daly, T.M.⁷ Sands, M.S.⁸

128
- 0034724209
- (2000) Proc. Natl. Acad. Sci. U S A , vol.97 , pp. 3428-3432
- Davidson, B.L.¹ Stein, C.S.² Heth, J.A.³ Martins, I.⁴ Kotin, R.M.⁵ Derksen, T.A.⁶ Zabner, J.⁷ Ghodsi, A.⁸ Chiorini, J.A.⁹

129
- 0035222465
- (2001) Adv. Genet , vol.45 , pp. 183-203
- Katz, M.L.¹ Shibuya, H.² Johnson, G.S.³

130
- 0031846129
- (1998) J. Med. Genet , vol.35 , pp. 717-721
- Broom, M.F.¹ Zhou, C.² Broom, J.E.³ Barwell, K.J.⁴ Jolly, R.D.⁵ Hill, D.F.⁶

131
- 0031450742
- (1997) Baillieres Clin. Haematol , vol.10 , pp. 621-634
- Brady, R.O.¹

132
- 0035397487
- (2001) Biochem. J , vol.357 , pp. 49-55
- Lin, L.¹ Lobel, P.²

133
- 0030738272
- (1997) Neuropediatrics , vol.28 , pp. 6-8
- Uvebrant, P.¹ Hagberg, B.²

134
- 0029050437
- (1995) Am. J. Med. Genet , vol.57 , pp. 144-149
- Taratuto, A.L.¹ Saccoliti, M.² Sevlever, G.³ Ruggieri, V.⁴ Arroyo, H.⁵ Herrero, M.⁶ Massaro, M.⁷ Fejerman, N.⁸

135
- 0029079209
- (1995) Am. J. Med. Genet , vol.57 , pp. 142-143
- Cardona, F.¹ Rosati, E.²

136
- 0026569056
- (1992) Am. J. Med. Genet , vol.42 , pp. 536-538
- Claussen, M.¹ Heim, P.² Knispel, J.³ Goebel, H.H.⁴ Kohlschutter, A.⁵

137
- 0034917426
- (2001) Eur. J. Ped. Neurol , vol.5 , Issue.SUPPL. A , pp. 7-10
- Mole, S.E.¹ Zhong, N.A.² Sarpong, A.³ Logan, W.P.⁴ Hofmann, S.L.⁵ Yi, W.⁶ Franken, P.F.⁷ van Diggelen, O.P.⁸ Breuning, M.H.⁹ Moroziewicz, D.¹⁰ Ju, W.¹¹ Salonen, T.¹² Holmberg, V.¹³ Jarvela, I.¹⁴ Taschner, P.E.M.¹⁵

138
- 0031847823
- (1998) J. Med. Genet , vol.35 , pp. 790
- Munroe, P.B.¹ Greene, N.D.² Leung, K.Y.³ Mole, S.E.⁴ Gardiner, R.M.⁵ Mitchison, H.M.⁶ Stephenson, J.B.⁷ Crow, Y.J.⁸

139
- 0032540131
- (1998) Biochem. Biophys. Res. Commun , vol.245 , pp. 519-522
- Santorelli, F.M.¹ Bertini, E.² Petruzzella, V.³ Di Capua, M.⁴ Calvieri, S.⁵ Gasparini, P.⁶ Zeviani, M.⁷

140
- 80051666769
- (2001) Neuronal Ceroid Lipofuscinosis Database
- Mole, S.¹

141
- 0035281532
- (2001) Amer. J. Med. Genet , vol.99 , pp. 161-163
- Lam, C.W.¹ Poon, P.M.² Tong, S.F.³ Ko, C.H.⁴

142
- 0035434723
- (2001) Hum. Mutat , vol.18 , pp. 165
- Lin, L.¹ Lobel, P.²

143
- 0034523014
- (2000) Genet. Med , vol.2 , pp. 312-318
- Zhong, N.¹ Moroziewicz, D.N.² Ju, W.³ Jurkiewicz, A.⁴ Johnston, L.⁵ Wisniewski, K.E.⁶ Brown, W.T.⁷

144
- 0000200138
- (1999) Am. J. Hum. Genet , vol.65 , Issue.SUPPL.
- Caillaud, C.¹ Manicom, J.² Puech, J.P.³ Lobel, P.⁴ Poenaru, L.⁵

145
- 0031670849
- (1998) Clin. Genet , vol.54 , pp. 234-238
- Zhong, N.¹ Wisniewski, K.E.² Hartikainen, J.³ Ju, W.⁴ Moroziewicz, D.N.⁵ McLendon, L.⁶ Sklower Brooks, S.S.⁷ Brown, W.T.⁸

146
- 0032807271
- (1999) Mol. Genet Metab , vol.67 , pp. 162-168
- Hartikanen, J.M.¹ Ju, W.² Wisniewski, K.E.³ Moroziewicz, D.N.⁴ Kaczmarski, A.L.⁵ McLendon, L.⁶ zhong, D.⁷ Suarez, C.T.⁸ Brown, W.T.⁹

147
- 0034201752
- (2000) Hum. Mutat , vol.15 , pp. 577
- Tessa, A.¹ Simonati, A.² Tavoni, A.³ Bertini, E.⁴ Santorelli, F.M.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.