-
1
-
-
0026100469
-
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
-
Järvelä I, Schleutker J, Haataja L, et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 1991;9:170-3.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Järvelä, I.1
Schleutker, J.2
Haataja, L.3
-
2
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-7.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
-
3
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the US
-
Das AK, Becerra CHR, Yi W, et al. Molecular genetics of palmitoyl-protein thioesterase deficiency in the US. J Clin Invest 1998;102:361-70.
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.R.2
Yi, W.3
-
4
-
-
6844237002
-
Mutations in the palmitoyl-protein thioesterase gene (PPT, CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
Mitchison HM, Hofmann SL, Becerra CHR, et al. Mutations in the palmitoyl-protein thioesterase gene (PPT, CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 1998;7:291-7.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 291-297
-
-
Mitchison, H.M.1
Hofmann, S.L.2
Becerra, C.H.R.3
-
5
-
-
0034925202
-
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)
-
van Diggelen OP, Keulemans JLM, Klijer WJ, Thobois S, Tilikete C, Voznyi YV. Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Eur J Paediatr Neurol 2001;5(Suppl A): 189-92.
-
(2001)
Eur. J. Paediatr. Neurol.
, vol.5
, Issue.SUPPL. A
, pp. 189-192
-
-
van Diggelen, O.P.1
Keulemans, J.L.M.2
Klijer, W.J.3
Thobois, S.4
Tilikete, C.5
Voznyi, Y.V.6
-
6
-
-
0034903333
-
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
-
van Diggelen OP, Thobois S, Tilikete C, et al. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol 2001;50:269-72.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 269-272
-
-
van Diggelen, O.P.1
Thobois, S.2
Tilikete, C.3
-
7
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11 p15 and 15q21-23
-
Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11 p15 and 15q21-23. Hum Mol Genet 1997; 6: 591-6.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 591-596
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
-
8
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat DE, Donnelly RJ, Lackland H, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997; 277:1802-5.
-
(1997)
Science
, vol.277
, pp. 1802-1805
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
-
9
-
-
0033052570
-
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyt peptidase I
-
Vines DJ, Warburton MJ. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyt peptidase I. FEBS Lett 1999;443:131-5.
-
(1999)
FEBS Lett.
, vol.443
, pp. 131-135
-
-
Vines, D.J.1
Warburton, M.J.2
-
10
-
-
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. 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 1994;55:695-701.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 695-701
-
-
Savukoski, M.1
Kestila, M.2
Williams, R.3
-
11
-
-
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. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998; 19:286-8.
-
(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
-
12
-
-
0036155408
-
The gene mutated in variant late infantile neuronal ceroid lipofuscinosis (CLN6) and nclf mutant mice encodes a novel predicted transmembrane protein
-
Wheeler RB, Sharp JD, Schultz RA, Jostin JM, Williams RE, Mole SE. The gene mutated in variant late infantile neuronal ceroid lipofuscinosis (CLN6) and nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet 2002;70:537-42.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 537-542
-
-
Wheeler, R.B.1
Sharp, J.D.2
Schultz, R.A.3
Jostin, J.M.4
Williams, R.E.5
Mole, S.E.6
-
13
-
-
0036155235
-
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
-
Gao H, Boustany RM, Espinola JA, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 2002;70:324-35.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 324-335
-
-
Gao, H.1
Boustany, R.M.2
Espinola, J.A.3
-
14
-
-
0038046681
-
Spectrum of CLN6 mutations in variant late infantile neurnal ceroid lipofuscinosis
-
Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neurnal ceroid lipofuscinosis. Hum Mutat 2003; 22:35-42.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 35-42
-
-
Sharp, J.D.1
Wheeler, R.B.2
Parker, K.A.3
Gardiner, R.M.4
Williams, R.E.5
Mole, S.E.6
-
15
-
-
0032775827
-
A new locus for variant late infantile neuronal ceroid lipofuscinosis (LINCL)-CLN7
-
Wheeler RB, Sharp JD, Mitchell WA, et al. A new locus for variant late infantile neuronal ceroid lipofuscinosis (LINCL)-CLN7. Mol Genet Metab 1999;66:337-8.
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 337-338
-
-
Wheeler, R.B.1
Sharp, J.D.2
Mitchell, W.A.3
-
17
-
-
11144353883
-
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
-
in press
-
Ranta S, Topçu M, Tegelberg S, et al. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 2003; in press.
-
(2003)
Hum. Mutat.
-
-
Ranta, S.1
Topçu, M.2
Tegelberg, S.3
-
18
-
-
0028237047
-
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
-
Tahvanainen E, Ranta S, Hirvasniemi A, et al. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 1994;91: 7267-70.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
-
19
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta S, Zhang Y, Ross B, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 1999;23:233-6.
-
(1999)
Nat. Genet.
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
-
20
-
-
0024450299
-
Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16
-
Eiberg H, Gardiner RM, Mohr J. Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16. Clin Genet 1989;36: 217-8.
-
(1989)
Clin. Genet.
, vol.36
, pp. 217-218
-
-
Eiberg, H.1
Gardiner, R.M.2
Mohr, J.3
-
21
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The International Batten Disease Consortium
-
The International Batten Disease Consortium, Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82: 949-57.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
22
-
-
0023892434
-
Kuf's disease: A critical reappraisal
-
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Kuf's disease: A critical reappraisal. Brain 1988; 111: 27-62.
-
(1988)
Brain
, vol.111
, pp. 27-62
-
-
Berkovic, S.F.1
Carpenter, S.2
Andermann, F.3
Andermann, E.4
Wolfe, L.S.5
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