-
2
-
-
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: 361-370.
-
(1998)
J Clin Invest
, vol.102
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.R.2
Yi, W.3
-
3
-
-
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: 217-18.
-
(1989)
Clin Genet
, vol.36
, pp. 217-218
-
-
Eiberg, H.1
Gardiner, R.M.2
Mohr, J.3
-
4
-
-
0028345785
-
Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration
-
Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J. Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 1994; 31: 177-182.
-
(1994)
J Med Genet
, vol.31
, pp. 177-182
-
-
Hirvasniemi, A.1
Lang, H.2
Lehesjoki, A.E.3
Leisti, J.4
-
5
-
-
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: 170-173.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Järvelä, I.1
Schleutker, J.2
Haataja, L.3
-
6
-
-
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: 291-297.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 291-297
-
-
Mitchison, H.M.1
Hofmann, S.L.2
Becerra, C.H.R.3
-
7
-
-
0030762908
-
High-resolution mapping and transcript identifiation at the progressive epilepsy with mental retardation locus on chromosome 8p
-
Ranta S, Lehesjoki AE, de Fatima Bonaldo M et al. High-resolution mapping and transcript identifiation at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 1997; 7: 887-896.
-
(1997)
Genome Res
, vol.7
, pp. 887-896
-
-
Ranta, S.1
Lehesjoki, A.E.2
De Fatima Bonaldo, M.3
-
8
-
-
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
-
9
-
-
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 et al. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet 1998; 19: 286-288.
-
(1998)
Nature Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
-
10
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipfuscinoses map to chromosomes 11p15 and 15q21-23
-
Sharp JD, Wheeler RB, Lake BD et al. Loci for classical and a variant late infantile neuronal ceroid lipfuscinoses map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997; 6: 591-596.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-596
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
-
11
-
-
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: 1802-1805.
-
(1997)
Science
, vol.277
, pp. 1802-1805
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
-
12
-
-
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: 7267-7270.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
-
13
-
-
0029147298
-
Isolation of a novel gene underlying batten disease (CLN3)
-
The International Batten Disease Consortium. Isolation of a novel gene underlying batten disease (CLN3). Cell 1995; 82: 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
14
-
-
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: 584-587.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
|