-
1
-
-
0023892434
-
Kufs disease: A critical reappraisal
-
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS (1988) Kufs disease: a critical reappraisal. Brain 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
-
2
-
-
0027518208
-
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras
-
Camp LA, Hofmann SL (1993) Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J Biol Chem 268: 22566-22574.
-
(1993)
J Biol Chem
, vol.268
, pp. 22566-22574
-
-
Camp, L.A.1
Hofmann, S.L.2
-
3
-
-
0027989872
-
Molecular cloning and expression of palmitoyl-protein thioesterase
-
Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA, Hofmann SL (1994) Molecular cloning and expression of palmitoyl-protein thioesterase. J Biol Chem 269: 23212-23219.
-
(1994)
J Biol Chem
, vol.269
, pp. 23212-23219
-
-
Camp, L.A.1
Verkruyse, L.A.2
Afendis, S.J.3
Slaughter, C.A.4
Hofmann, S.L.5
-
4
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the US
-
Das AK, Becerra CHR, Yi W, et al (1998) Molecular genetics of palmitoyl-protein thioesterase deficiency in the US. J Clin Invest 102: 361-370.
-
(1998)
J Clin Invest
, vol.102
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.R.2
Yi, W.3
-
5
-
-
0029075391
-
Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms
-
Dyken P, Wisniewski K (1995) Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. Am J Med Genet 57: 150-154.
-
(1995)
Am J Med Genet
, vol.57
, pp. 150-154
-
-
Dyken, P.1
Wisniewski, K.2
-
6
-
-
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 (1995a) 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
-
7
-
-
0029015619
-
Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease)
-
Ezaki J, Wolfe LS, Ishidoh K, Kominami E (1995b) Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). Am J Med Genet 57: 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
-
8
-
-
2042507735
-
Northern epilepsy: A novel form of neuronal ceroid-lipofuscinosis
-
abstract
-
Haltia M, Tyynelä J, Hirvasniemi A, Ylitalo MS, Herva R (1998) Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Proc. 7th International Congress on the NCLs, 04 (abstract).
-
(1998)
Proc. 7th International Congress on the NCLs
, pp. 04
-
-
Haltia, M.1
Tyynelä, J.2
Hirvasniemi, A.3
Ylitalo, M.S.4
Herva, R.5
-
9
-
-
0027315230
-
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis
-
Hellsten E, Vesa J, Speer MC, et al (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16: 720-725.
-
(1993)
Genomics
, vol.16
, pp. 720-725
-
-
Hellsten, E.1
Vesa, J.2
Speer, M.C.3
-
10
-
-
0029843717
-
Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
-
Hellsten E, Vesa J, Olkkonen VM, Jalanko A, Peltonen L (1996) Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. Embo J 15: 5240-5245.
-
(1996)
Embo J
, vol.15
, pp. 5240-5245
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.M.3
Jalanko, A.4
Peltonen, L.5
-
11
-
-
0001767013
-
Inborn lysosomal diseases
-
Hers HG (1965) Inborn lysosomal diseases. Gastroenterology 48: 625-633.
-
(1965)
Gastroenterology
, vol.48
, pp. 625-633
-
-
Hers, H.G.1
-
12
-
-
0030739514
-
Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis
-
Hofmann SL, Lee LA, Lu JY, Verkruyse LA (1997) Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis. Neuropediatrics 28: 27-30.
-
(1997)
Neuropediatrics
, vol.28
, pp. 27-30
-
-
Hofmann, S.L.1
Lee, L.A.2
Lu, J.Y.3
Verkruyse, L.A.4
-
13
-
-
0032798744
-
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency
-
in press
-
Hofmann SL, Das AK, Yi W, Lu Y-J, Wisniewski KE (1999) Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. Mol Genet Metab (in press).
-
(1999)
Mol Genet Metab
-
-
Hofmann, S.L.1
Das, A.K.2
Yi, W.3
Lu, Y.-J.4
Wisniewski, K.E.5
-
14
-
-
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 Ophthalmol Vis Sci 38: 2375-2386.
-
(1997)
Invest Ophthalmol 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
-
15
-
-
0027225696
-
Human forms of neuronal ceroidlipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992
-
Kohlschütter A, Gardiner RM, Goebel HH (1993) Human forms of neuronal ceroidlipofuscinosis (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
Goebel, H.H.3
-
16
-
-
0027258829
-
Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease
-
Lake BD, Hall NA (1993) Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. J Inher Metab Dis 16: 263-266.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 263-266
-
-
Lake, B.D.1
Hall, N.A.2
-
17
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3 (The International Batten Disease Consortium)
-
Lerner TJ, Boustany RN, Anderson JW, et al (1995) Isolation of a novel gene underlying Batten disease, CLN3 (The International Batten Disease Consortium). Cell 82: 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
Lerner, T.J.1
Boustany, R.N.2
Anderson, J.W.3
-
18
-
-
0029788513
-
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase
-
Lu JY, Verkruyse LA, Hofmann SL (1996) Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proc Natl Acad Sci USA 93: 10046-10050.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 10046-10050
-
-
Lu, J.Y.1
Verkruyse, L.A.2
Hofmann, S.L.3
-
19
-
-
0345033878
-
Intracellular localization of the CLN1 and CLN3 protein in normal rat and human brain
-
in press
-
Margraf LR, Cuppen I, Routheut AAJ, et al (1999) Intracellular localization of the CLN1 and CLN3 protein in normal rat and human brain. Mol Genet Metab (in press).
-
(1999)
Mol Genet Metab
-
-
Margraf, L.R.1
Cuppen, I.2
Aaj, R.3
-
20
-
-
0027288395
-
Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16
-
Mitchison HM, Williams RE, McKay TR, et al (1993) Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16. J Inher Metab Dis 16: 339-341.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 339-341
-
-
Mitchison, H.M.1
Williams, R.E.2
McKay, T.R.3
-
21
-
-
0027982645
-
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association
-
Mitchison HM, Taschner PE, O'Rawe AM, et al (1994) Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics 22: 465-468.
-
(1994)
Genomics
, vol.22
, pp. 465-468
-
-
Mitchison, H.M.1
Taschner, P.E.2
O'Rawe, A.M.3
-
22
-
-
6844237002
-
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
Mitchison HM, Hofmann SL, Becerra CH, et al (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7: 291-297.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 291-297
-
-
Mitchison, H.M.1
Hofmann, S.L.2
Becerra, C.H.3
-
23
-
-
0029977035
-
Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses
-
Mole SE (1996) Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. J Inher Metab Dis 19: 269-274.
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 269-274
-
-
Mole, S.E.1
-
24
-
-
16944364280
-
Spectrum of mutations in the Batten disease gene, CLN3
-
Munroe PB, Mitchison HM, O'Rawe AM, et al (1997) Spectrum of mutations in the 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
-
25
-
-
8544278145
-
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
O'Rawe A, Mitchison HM, Williams R, et al (1997) Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics 28: 21-22.
-
(1997)
Neuropediatrics
, vol.28
, pp. 21-22
-
-
O'Rawe, A.1
Mitchison, H.M.2
Williams, R.3
-
27
-
-
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 USA 95: 6915-6918.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6915-6918
-
-
Pearce, D.A.1
Sherman, F.2
-
28
-
-
0032796033
-
Studies into the function of Btn1p, the yeast homolog of Cln3p
-
in press
-
Pearce DA, Nosel SA, Sherman F (1999) Studies into the function of Btn1p, the yeast homolog of Cln3p. Mol Genet Metab (in press).
-
(1999)
Mol Genet Metab
-
-
Pearce, D.A.1
Nosel, S.A.2
Sherman, F.3
-
29
-
-
0024219698
-
Batten disease: Past, present, and future
-
Rider JA, Rider DL (1988) Batten disease: past, present, and future. Am J Med Genet (supplement 5): 21-26.
-
(1988)
Am J Med Genet
, Issue.5 SUPPL.
, pp. 21-26
-
-
Rider, J.A.1
Rider, D.L.2
-
30
-
-
0023917534
-
Neuronal ceroid-lipofuscinoses in childhood
-
Santavuori P (1988) Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 10: 80-83.
-
(1988)
Brain Dev
, vol.10
, pp. 80-83
-
-
Santavuori, P.1
-
33
-
-
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
-
34
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL)
-
Savukoski M, Klockars T, Holmber V, Santavuori P, Lander ES, Peltonen L (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL). Nature Genet 19: 286-288.
-
(1998)
Nature Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmber, V.3
Santavuori, P.4
Lander, E.S.5
Peltonen, L.6
-
35
-
-
0029450268
-
Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)
-
Sharp JD, Wheeler RB, Savukoski M, et al (1995) Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2) (Letter). Eur J Hum Genet 3: 326-328.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 326-328
-
-
Sharp, J.D.1
Wheeler, R.B.2
Savukoski, M.3
-
36
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
-
Sharp JD, Wheeler RB, Lake BD, et al (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 6: 591-595.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-595
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
-
37
-
-
0029782734
-
Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis
-
Sleat DE, Sohar I, Lackland H, Majercak J, Lobel P (1996) Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. J Biol Chem 271: 19191-19198.
-
(1996)
J Biol Chem
, vol.271
, pp. 19191-19198
-
-
Sleat, D.E.1
Sohar, I.2
Lackland, H.3
Majercak, J.4
Lobel, P.5
-
38
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat DE, Donnelly RJ, Lackland H, et al (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
-
39
-
-
0009756906
-
DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses
-
Syvänen AC, Järvelä I, Paunio T, Vesa J (1997) DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses. Neuropediatrics 28: 63-66.
-
(1997)
Neuropediatrics
, vol.28
, pp. 63-66
-
-
Syvänen, A.C.1
Järvelä, I.2
Paunio, T.3
Vesa, J.4
-
40
-
-
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 (1994) 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 91: 7267-7270.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
-
41
-
-
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
-
42
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
Verkruyse LA, Hofmann SL (1996) Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem 271: 15831-18536.
-
(1996)
J Biol Chem
, vol.271
, pp. 15831-18536
-
-
Verkruyse, L.A.1
Hofmann, S.L.2
-
43
-
-
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
-
44
-
-
4243732444
-
Molecular genetic analysis of late infantile and adult onset NCL
-
abstract
-
Wheeler RB, Sharp JD, Williams RE, Lake BD, Gardiner RM (1998) Molecular genetic analysis of late infantile and adult onset NCL. Proc. 7th International Congress on the NCLs, 03 (abstract).
-
(1998)
Proc. 7th International Congress on the NCLs
, pp. 03
-
-
Wheeler, R.B.1
Sharp, J.D.2
Williams, R.E.3
Lake, B.D.4
Gardiner, R.M.5
-
45
-
-
0024196294
-
Clinicopathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities
-
Wisniewski KE, Rapin I, Heaney-Kieras J (1988) Clinicopathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Am J Med Genet 5: 27-46.
-
(1988)
Am J Med Genet
, vol.5
, pp. 27-46
-
-
Wisniewski, K.E.1
Rapin, I.2
Heaney-Kieras, J.3
-
46
-
-
0345033871
-
Re-evaluation of atypical NCL: Juvenile onset may be caused by mutation of CLN2
-
in press
-
Wisniewski KE, Kida E, Connell F, et al (1999) Re-evaluation of atypical NCL: juvenile onset may be caused by mutation of CLN2. Mol Genet Metab (in press).
-
(1999)
Mol Genet Metab
-
-
Wisniewski, K.E.1
Kida, E.2
Connell, F.3
|