-
1
-
-
0024251647
-
Clinical classification of neuronal ceroid-lipofuscinosis subtypes
-
Boustany R-MN, Alroy J, Kolodny KH (1988) Clinical classification of neuronal ceroid-lipofuscinosis subtypes. Am J Med Genet 5: (supplement): 47 - 58.
-
(1988)
Am J Med Genet
, vol.5
, Issue.SUPPL.
, pp. 47-58
-
-
Boustany, R.-M.N.1
Alroy, J.2
Kolodny, K.H.3
-
2
-
-
0015547256
-
A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits
-
Carpenter S, Karpati G, Wolfe LS, Andermann F (1973) A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. J Neurol Sci 18: 67 - 87.
-
(1973)
J Neurol Sci
, vol.18
, pp. 67-87
-
-
Carpenter, S.1
Karpati, G.2
Wolfe, L.S.3
Andermann, F.4
-
3
-
-
0024193388
-
Reconsideration of the classification of the neuronal ceroid-lipofuscinoses
-
Dyken PR (1988) Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. Am J Med Genet 5 (supplement): 69 - 84.
-
(1988)
Am J Med Genet
, vol.5
, Issue.SUPPL.
, pp. 69-84
-
-
Dyken, P.R.1
-
4
-
-
0028341126
-
Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis
-
Faust JR, Rodman JS, Daniel PF, Dice JF, Bronson RT (1994) Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J Biol Chem 269: 10150-10155.
-
(1994)
J Biol Chem
, vol.269
, pp. 10150-10155
-
-
Faust, J.R.1
Rodman, J.S.2
Daniel, P.F.3
Dice, J.F.4
Bronson, R.T.5
-
5
-
-
0025290956
-
The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dieyelohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase
-
Fearnley IM, Walker JE, Martinus RD, et al (1990) The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dieyelohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Biochem J 268: 751 - 758.
-
(1990)
Biochem J
, vol.268
, pp. 751-758
-
-
Fearnley, I.M.1
Walker, J.E.2
Martinus, R.D.3
-
6
-
-
0029018111
-
Pigment variant ot neuronal ceroid-lipofuscinosis
-
Goebel HH, Gullotta F, Bajanowski T, Flemming JH, Braak H (1995) Pigment variant ot neuronal ceroid-lipofuscinosis. Am J Med Genet 57: 155 - 159.
-
(1995)
Am J Med Genet
, vol.57
, pp. 155-159
-
-
Goebel, H.H.1
Gullotta, F.2
Bajanowski, T.3
Flemming, J.H.4
Braak, H.5
-
7
-
-
0015596171
-
Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies
-
Haltia M, Rapola J, Santavuori P, Keränen A (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies. J Neurol Sci 18: 269 - 285.
-
(1973)
J Neurol Sci
, vol.18
, pp. 269-285
-
-
Haltia, M.1
Rapola, J.2
Santavuori, P.3
Keränen, A.4
-
9
-
-
0029048726
-
Late onset juvenile neuronal ceroid-lipofuscinosis with granulai osmiophilic deposits (GROD)
-
Hofman IL, Taschner PEM (1995) Late onset juvenile neuronal ceroid-lipofuscinosis with granulai osmiophilic deposits (GROD). Am J Med Genet 57: 165 - 167.
-
(1995)
Am J Med Genet
, vol.57
, pp. 165-167
-
-
Hofman, I.L.1
Taschner, P.E.M.2
-
10
-
-
0027302564
-
An animal model of the infantile type of neuronal ceroid-lipofuscinosis
-
Järplid B, Haltia M (1993) An animal model of the infantile type of neuronal ceroid-lipofuscinosis. J Inher Metab Dis 16: 274 - 277.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 274-277
-
-
Järplid, B.1
Haltia, M.2
-
11
-
-
0029013147
-
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): An overview
-
Jolly RD (1995) Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. Am J Med Genet 57: 307 - 311.
-
(1995)
Am J Med Genet
, vol.57
, pp. 307-311
-
-
Jolly, R.D.1
-
12
-
-
0028932292
-
The neuronal ceroid-lipofuscinoses (Batten disease): Comparative aspects
-
Jolly RD, Palmer DN (1995) The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects. Neuropathol Appl Neurobiol 21: 50 - 60.
-
(1995)
Neuropathol Appl Neurobiol
, vol.21
, pp. 50-60
-
-
Jolly, R.D.1
Palmer, D.N.2
-
13
-
-
84986799878
-
Canine ceroid-lipofuscinoses: A review and classification
-
Jolly RD, Palmer DN, Studdert VP, et al (1994) Canine ceroid-lipofuscinoses: a review and classification. J Small Animal Pract 35: 299 - 306.
-
(1994)
J Small Animal Pract
, vol.35
, pp. 299-306
-
-
Jolly, R.D.1
Palmer, D.N.2
Studdert, V.P.3
-
14
-
-
0027225696
-
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992
-
Kohlschütter A, Gardiner RM, Goebell HH (1993) Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. J Inher Metab Dis 16: 241 - 244.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 241-244
-
-
Kohlschütter, A.1
Gardiner, R.M.2
Goebell, H.H.3
-
15
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680 - 685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
16
-
-
0025983474
-
Bovine ceroid-lipofuscinosis (Batten's disease): The major component stored is the DCCD-reactive proteolipid, subunit C, of mitochondrial ATP synthase
-
Martinus RD, Harper PAW, Jolly RD, et al (1991) Bovine ceroid-lipofuscinosis (Batten's disease): the major component stored is the DCCD-reactive proteolipid, subunit C, of mitochondrial ATP synthase. Vet Res Commun 15: 85 - 94.
-
(1991)
Vet Res Commun
, vol.15
, pp. 85-94
-
-
Martinus, R.D.1
Harper, P.A.W.2
Jolly, R.D.3
-
17
-
-
0024597716
-
Saposin A: A second cerebrosidase activator protein
-
Morimoto S, Martin BM, Yamamoto Y, Kretz KA, O'Brien JS, Kishimoto Y (1989) Saposin A: a second cerebrosidase activator protein. Proc Nutl Acad Sci USA 86; 3389 - 3393.
-
(1989)
Proc Nutl Acad Sci USA
, vol.86
, pp. 3389-3393
-
-
Morimoto, S.1
Martin, B.M.2
Yamamoto, Y.3
Kretz, K.A.4
O'Brien, J.S.5
Kishimoto, Y.6
-
18
-
-
0023038776
-
Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein
-
Palmer DN, Barns G, Husbands DR, Jolly RD (1986) Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein. J Biol Chem 261: 1773 - 1777.
-
(1986)
J Biol Chem
, vol.261
, pp. 1773-1777
-
-
Palmer, D.N.1
Barns, G.2
Husbands, D.R.3
Jolly, R.D.4
-
20
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
Palmer DN, Feamley IM, Walker JE. et al (1992) Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genci 42: 561 - 567.
-
(1992)
Am J Med Genci
, vol.42
, pp. 561-567
-
-
Palmer, D.N.1
Feamley, I.M.2
Walker, J.E.3
-
21
-
-
0029009246
-
Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c
-
Palmer DN, Bayliss SL, Westlake VJ (1995) Batten disease and the ATP synthase subunit c turnover pathway: raising antibodies to subunit c. Am J Med Genet 57: 260 - 265.
-
(1995)
Am J Med Genet
, vol.57
, pp. 260-265
-
-
Palmer, D.N.1
Bayliss, S.L.2
Westlake, V.J.3
-
22
-
-
0029068066
-
New Spielmeyer - Vogr variant with granular inclusions and early brain atrophy
-
Philippart M, Chugani HT, Bateman JB (1995) New Spielmeyer - Vogr variant with granular inclusions and early brain atrophy. Am J Med Genet 57: 160 - 164.
-
(1995)
Am J Med Genet
, vol.57
, pp. 160-164
-
-
Philippart, M.1
Chugani, H.T.2
Bateman, J.B.3
-
23
-
-
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, et al (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
-
24
-
-
0023472472
-
Tricine - Sodium dodecyl sulfate - polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100kDa
-
Sehägger H, von Jagow G (1987) Tricine - sodium dodecyl sulfate - polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100kDa. Anal Biochem 166: 368 - 379.
-
(1987)
Anal Biochem
, vol.166
, pp. 368-379
-
-
Sehägger, H.1
Von Jagow, G.2
-
25
-
-
0346838181
-
A retinal disorder associated with ceroid-lipofuscinosis in adult miniature Schnauzers
-
in press
-
Smith RIE, Sutton RH, Jolly RD, Smith KR (1996) A retinal disorder associated with ceroid-lipofuscinosis in adult miniature Schnauzers. J Va Comp Ophthalmol, in press.
-
(1996)
J Va Comp Ophthalmol
-
-
Smith, R.I.E.1
Sutton, R.H.2
Jolly, R.D.3
Smith, K.R.4
-
26
-
-
0027224115
-
Storage of saposins a and D in infantile neuronal ceroid-lipofuscinosis
-
Tyynelä J, Palmer DN, Baumann M, Haltia M (1993) Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett 330: 8 - 12.
-
(1993)
FEBS Lett
, vol.330
, pp. 8-12
-
-
Tyynelä, J.1
Palmer, D.N.2
Baumann, M.3
Haltia, M.4
-
27
-
-
0028970313
-
Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: An immunological study
-
Tyynelä J, Baumann M, Henseler M, Sandhoff K, Haltia M (1995) Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study. Acta Neuropathol 89: 391 - 398.
-
(1995)
Acta Neuropathol
, vol.89
, pp. 391-398
-
-
Tyynelä, J.1
Baumann, M.2
Henseler, M.3
Sandhoff, K.4
Haltia, M.5
-
28
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, et al (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
-
29
-
-
0026524217
-
Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations
-
Wisniewski KE, Kida E, Patxot OF, Council F (1992) Variability in the clinical and pathological findings 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
Council, F.4
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