-
1
-
-
0028879016
-
The neuronal ceroid lipofuscinoses
-
Goebel H H. The neuronal ceroid lipofuscinoses. J Child Neurol. 10:1995;424-437.
-
(1995)
J Child Neurol
, vol.10
, pp. 424-437
-
-
Goebel, H.H.1
-
2
-
-
0026608320
-
Evidence for lipase abnormality: High levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinoses
-
Banerjee P, Dasgupta A, Siakotas A, Dawson G. Evidence for lipase abnormality: High levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinoses. Am J Med Genet. 42:1992;549-554.
-
(1992)
Am J Med Genet
, vol.42
, pp. 549-554
-
-
Banerjee, P.1
Dasgupta, A.2
Siakotas, A.3
Dawson, G.4
-
3
-
-
0029153109
-
Mutations in the palmitoyl protein thiolesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse L A, Camp L A, Rapola J, Santavuori P, Hofmann S L, Peltonen L. Mutations in the palmitoyl protein thiolesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 376:1995;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
-
4
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat D E, Donnelly R J, Lackland H, Liu C-G, Sohar I, Pullarkat R, Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 277:1997;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.6
Lobel, P.7
-
5
-
-
0031803649
-
CLN5
-
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander E, Peltonen L. CLN5. Nature Genet. 19:1998;286-288.
-
(1998)
Nature Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
Santavuori, P.4
Lander, E.5
Peltonen, L.6
-
6
-
-
0029147298
-
-
Cell. 82:1995;949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
7
-
-
0015596171
-
Infantile type of so-called neuronal ceroid lipofuscinosis, 2
-
Haltia M, Rapola L, Santavuori P, Keranen A. Infantile type of so-called neuronal ceroid lipofuscinosis, 2. J Neurol Sci. 18:1973;269-285.
-
(1973)
J Neurol Sci
, vol.18
, pp. 269-285
-
-
Haltia, M.1
Rapola, L.2
Santavuori, P.3
Keranen, A.4
-
8
-
-
0001334447
-
Morphological and histochemical studies of neurolipidosis by light and electron microscopy
-
Koenig H, McDonald T, Nellhaus G. Morphological and histochemical studies of neurolipidosis by light and electron microscopy. J Neuropathol Exp Neurol. 23:1964;191-193.
-
(1964)
J Neuropathol Exp Neurol
, vol.23
, pp. 191-193
-
-
Koenig, H.1
McDonald, T.2
Nellhaus, G.3
-
9
-
-
0025854327
-
Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease
-
Hall N A, Lake B D, Dewji N N, Patrick N D. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease. Biochem J. 275:1991;269-272.
-
(1991)
Biochem J
, vol.275
, pp. 269-272
-
-
Hall, N.A.1
Lake, B.D.2
Dewji, N.N.3
Patrick, N.D.4
-
10
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
Palmer D N, Fearnley I M, Walker J E, Hall N A, Lake B D, Wolfe L S, Haltia M, Martinur R D, Jolly R D. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genet. 42:1992;561-567.
-
(1992)
Am J Med Genet
, vol.42
, 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
Haltia, M.7
Martinur, R.D.8
Jolly, R.D.9
-
11
-
-
0029009246
-
Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c
-
Palmer D N, Bayliss S L, Westlake V J. Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c. Am J Med Genet. 57:1995;260-265.
-
(1995)
Am J Med Genet
, vol.57
, pp. 260-265
-
-
Palmer, D.N.1
Bayliss, S.L.2
Westlake, V.J.3
-
12
-
-
0028857502
-
Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)
-
Ezaki J, Wolfe L S, Higuit T, Ishidoh K, Kominami E. Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). J Neurochem. 64:1995;733-741.
-
(1995)
J Neurochem
, vol.64
, pp. 733-741
-
-
Ezaki, J.1
Wolfe, L.S.2
Higuit, T.3
Ishidoh, K.4
Kominami, E.5
-
13
-
-
0029015619
-
Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)
-
Ezaki J, Wolfe L S, Ishidoh K, Kominami E. Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). Am J Med Genet. 57:1995;254-259.
-
(1995)
Am J Med Genet
, vol.57
, pp. 254-259
-
-
Ezaki, J.1
Wolfe, L.S.2
Ishidoh, K.3
Kominami, E.4
-
14
-
-
0026526712
-
Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease)
-
Kominami E, Ezaki J, Muno D, Ishido K, Ueno T, Wolfe L S. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). J Biochem. 111:1992;278-282.
-
(1992)
J Biochem
, vol.111
, pp. 278-282
-
-
Kominami, E.1
Ezaki, J.2
Muno, D.3
Ishido, K.4
Ueno, T.5
Wolfe, L.S.6
-
16
-
-
0032499745
-
A yeast model for the study of Batten disease
-
Pearce D A, Sherman F. A yeast model for the study of Batten disease. Proc Natl Acad Sci USA. 95:1998;6915-6918.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6915-6918
-
-
Pearce, D.A.1
Sherman, F.2
|