-
1
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587
-
(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
-
2
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805
-
(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
-
3
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949-957
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
4
-
-
0030201075
-
Efficient construction of a physical map by fiber-fish of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22
-
Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin K (1996) Efficient construction of a physical map by fiber-fish of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. Genomics 35:71-78
-
(1996)
Genomics
, vol.35
, pp. 71-78
-
-
Klockars, T.1
Savukoski, M.2
Isosomppi, J.3
Laan, M.4
Jarvela, I.5
Petrukhin, K.6
-
5
-
-
0028041361
-
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
-
Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J (1994) Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet 55:695-701
-
(1994)
Am J Hum Genet
, vol.55
, pp. 695-701
-
-
Savukoski, M.1
Kestila, M.2
Williams, R.3
Jarvela, I.4
Sharp, J.5
Harris, J.6
-
6
-
-
0001367701
-
Fine structure of the lipid bodies in juvenile amaurotic idiocy
-
Berl
-
Zeman W, Donahue S (1963) Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta Neuropathol (Berl) 3:144-149
-
(1963)
Acta Neuropathol
, vol.3
, pp. 144-149
-
-
Zeman, W.1
Donahue, S.2
-
7
-
-
0344354802
-
Electron microscopic observations in Batten's disease
-
Aronson SM, Volk BW (eds) Pergamon, Oxford
-
Donahue S, Zeman W, Watanabe I (1967) Electron microscopic observations in Batten's disease. In: Aronson SM, Volk BW (eds) Inborn disorders of sphingolipid metabolism. Pergamon, Oxford, pp 3-22
-
(1967)
Inborn Disorders of Sphingolipid Metabolism
, pp. 3-22
-
-
Donahue, S.1
Zeman, W.2
Watanabe, I.3
-
8
-
-
0026524217
-
Variability in the clinical and pathological finding in the neuronal ceroid lipofuscinoses: Review of data and observations
-
Wisniewski KE, Kida E, Patxot OF, Connell F (1992) Variability in the clinical and pathological finding in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet 42:525-532
-
(1992)
Am J Med Genet
, vol.42
, pp. 525-532
-
-
Wisniewski, K.E.1
Kida, E.2
Patxot, O.F.3
Connell, F.4
-
9
-
-
16944364280
-
Spectrum of mutations in Batten disease gene, CLN3
-
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany R, Lerner TJ (1997) Spectrum of mutations in Batten disease gene, CLN3. Am J Hum Genet 61:310-316
-
(1997)
Am J Hum Genet
, vol.61
, pp. 310-316
-
-
Munroe, P.B.1
Mitchison, H.M.2
O'Rawe, A.M.3
Anderson, J.W.4
Boustany, R.5
Lerner, T.J.6
-
10
-
-
17444450809
-
Identification of a novel missense mutation (E295 K) underlying Batten disease
-
Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW (1998) Identification of a novel missense mutation (E295 K) underlying Batten disease. Hum Genet 102:57-62
-
(1998)
Hum Genet
, vol.102
, pp. 57-62
-
-
Zhong, N.1
Wisniewski, K.E.2
Kaczmarski, A.L.3
Ju, W.4
Xu, W.M.5
Xu, W.W.6
-
11
-
-
0030577376
-
A model for Batten disease protein CLN3: Functional implications from homology and mutations
-
Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA (1996) A model for Batten disease protein CLN3: functional implications from homology and mutations. FEBS Lett 399:75-77
-
(1996)
FEBS Lett
, vol.399
, pp. 75-77
-
-
Janes, R.W.1
Munroe, P.B.2
Mitchison, H.M.3
Gardiner, R.M.4
Mole, S.E.5
Wallace, B.A.6
-
13
-
-
0026539541
-
Mitochondrial ATP synthase subunit C storage in the ceroid-lipofuscinoses (Batten disease)
-
Palmer DN, Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS (1992) Mitochondrial ATP synthase subunit C storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genet 45:561-567
-
(1992)
Am J Med Genet
, vol.45
, pp. 561-567
-
-
Palmer, D.N.1
Fearnley, I.M.2
Walker, J.E.3
Hall, N.A.4
Lake, B.D.5
Wolfe, L.S.6
-
14
-
-
0028857502
-
Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)
-
Ezaki J, Wolfe LS, Higuti T, Ishidoh K, Kominami E (1995) Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). J Neurochem 64:733-741
-
(1995)
J Neurochem
, vol.64
, pp. 733-741
-
-
Ezaki, J.1
Wolfe, L.S.2
Higuti, T.3
Ishidoh, K.4
Kominami, E.5
-
15
-
-
0032530266
-
Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses
-
Sleat DE, Sohar I, Pullarkat PS, Lobel P, Pullarkat RK (1998) Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses. Biochem J 334:547-551
-
(1998)
Biochem J
, vol.334
, pp. 547-551
-
-
Sleat, D.E.1
Sohar, I.2
Pullarkat, P.S.3
Lobel, P.4
Pullarkat, R.K.5
-
16
-
-
0028124463
-
The two-hybrid system: An assay for protein-protein interactions
-
Fields S, Sternglanz R (1994) The two-hybrid system: an assay for protein-protein interactions. Trends Genet 10:286-292
-
(1994)
Trends Genet
, vol.10
, pp. 286-292
-
-
Fields, S.1
Sternglanz, R.2
-
17
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
Jarvela I, Sainio M, Rantamaki T, Olkkonen VM, Carpen O, Peltonen L, Galanko A (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet 7:85-90
-
(1998)
Hum Mol Genet
, vol.7
, pp. 85-90
-
-
Jarvela, I.1
Sainio, M.2
Rantamaki, T.3
Olkkonen, V.M.4
Carpen, O.5
Peltonen, L.6
Galanko, A.7
-
18
-
-
0030769620
-
Immunochemical localization of the Batten disease (CLN3) protein in retina
-
Katz ML, Gao CL, Prabhakaram M, Shibuya H, Liu PC, Johnson GS (1997) Immunochemical localization of the Batten disease (CLN3) protein in retina. Invest Ophthamol Vis Sci 38:2375-2386
-
(1997)
Invest Ophthamol Vis Sci
, vol.38
, pp. 2375-2386
-
-
Katz, M.L.1
Gao, C.L.2
Prabhakaram, M.3
Shibuya, H.4
Liu, P.C.5
Johnson, G.S.6
-
19
-
-
0032499745
-
A yeast model for the study of Batten disease
-
Pearce DA, Sherman F (1998) A yeast model for the study of Batten disease. Proc Natl Acad Sci U S A 95:6915-6918
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 6915-6918
-
-
Pearce, D.A.1
Sherman, F.2
-
20
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
-
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 19:286-288
-
(1998)
Nat Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
Santavuori, P.4
Lander, E.S.5
Peltonen, L.6
-
21
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Fatima Bonaldo M de, Hirvasniemi A, Chapelle A de la, Gilliam TC, Lehesjoki A (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23:233-236
-
(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
De Fatima Bonaldo, M.13
Hirvasniemi, A.14
De La Chapelle, A.15
Gilliam, T.C.16
Lehesjoki, A.17
|