-
1
-
-
0000827239
-
The neuronal ceroid-lipofuscinosis (Batten-Vogt syndrome)
-
P. Vinken, & G. Bruyn
-
Zeman W., Donahue S., Dyken P., Green J. The neuronal ceroid-lipofuscinosis (Batten-Vogt syndrome). Vinken P., Bruyn G. Handbook of Clinical Neurology. 1970;588-679.
-
(1970)
Handbook of Clinical Neurology
, pp. 588-679
-
-
Zeman, W.1
Donahue, S.2
Dyken, P.3
Green, J.4
-
2
-
-
0023917534
-
Neuronal ceroid-lipofuscinoses in childhood
-
Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 10:1988;80-83.
-
(1988)
Brain Dev
, vol.10
, pp. 80-83
-
-
Santavuori, P.1
-
3
-
-
0030738272
-
Neuronal ceroid lipofuscinoses in Scandinavia Epidemiology and clinincal pictures
-
Uvebrandt P., Hagberg B. Neuronal ceroid lipofuscinoses in Scandinavia Epidemiology and clinincal pictures. Neuropediatrics. 28:1997;6-8.
-
(1997)
Neuropediatrics
, vol.28
, pp. 6-8
-
-
Uvebrandt, P.1
Hagberg, B.2
-
4
-
-
0027517038
-
Neuronal ceroid-lipofuscinoese in childhood
-
B.H. Landing, M.D. Hause, J. Bernstein, & H.S. Rosenberg. Genetic Metabolic Diseases. Basel: Karger
-
Rapola J. Neuronal ceroid-lipofuscinoese in childhood. Landing B.H., Hause M.D., Bernstein J., Rosenberg H.S. Genetic Metabolic Diseases. Genet Metab Dis Perspect Pediatr Pathol. 1993;7-44 Karger, Basel.
-
(1993)
Genet Metab Dis Perspect Pediatr Pathol
, pp. 7-44
-
-
Rapola, J.1
-
5
-
-
0026535709
-
Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings
-
Autti T., Raininko R., Launes J., Nuutila A., Santavuori P. Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings. Pediatr Neurol. 8:1992;121-126.
-
(1992)
Pediatr Neurol
, vol.8
, pp. 121-126
-
-
Autti, T.1
Raininko, R.2
Launes, J.3
Nuutila, A.4
Santavuori, P.5
-
6
-
-
0342811833
-
Neuronal ceroid lipofuscinosis in the metabolic and molecular bases of inherited disorders
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: David McGraw Hill. in press
-
th Edn. 2000;David McGraw Hill, New York. in press.
-
(2000)
th Edn
-
-
Hofmann, S.1
Peltonen, L.2
-
8
-
-
0027217753
-
Prenatal diagnosis of infantile neuronal ceroid lipofuscinosis, INCL: Morphological aspects
-
Rapola J., Salonen R., Ämmälä P., Santavuori P. Prenatal diagnosis of infantile neuronal ceroid lipofuscinosis, INCL: morphological aspects. J Inher Metab Dis. 16:1993;349-352.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 349-352
-
-
Rapola, J.1
Salonen, R.2
Ämmälä, P.3
Santavuori, P.4
-
9
-
-
0025854327
-
Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten’s disease (ceroid lipofuscinosis)
-
Hall N.A., Lake B.D., Dewji N.N., Patrick A.D. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten’s disease (ceroid lipofuscinosis). J Biochem. 275:1991;269-272.
-
(1991)
J Biochem
, vol.275
, pp. 269-272
-
-
Hall, N.A.1
Lake, B.D.2
Dewji, N.N.3
Patrick, A.D.4
-
10
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
Palmer D.N., Fearnley I.M., Walker V.E., Hall N.A., Lake B.D., Wolfe L.S., Haltia M., Martinus R.D., Jolly R.D. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Metab Dis. 42:1992;561-567.
-
(1992)
Am J Metab Dis
, vol.42
, pp. 561-567
-
-
Palmer, D.N.1
Fearnley, I.M.2
Walker, V.E.3
Hall, N.A.4
Lake, B.D.5
Wolfe, L.S.6
Haltia, M.7
Martinus, R.D.8
Jolly, R.D.9
-
11
-
-
0030722899
-
Variant late infantile neuronal ceroid-lipofuscinoses: Pathology and biochemistry
-
Tyynelä J., Suopanki J., Santavuori P., Baumann M., Haltia M. Variant late infantile neuronal ceroid-lipofuscinoses: pathology and biochemistry. J Neuropathol Exp Neurol. 56:1997;369-375.
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, pp. 369-375
-
-
Tyynelä, J.1
Suopanki, J.2
Santavuori, P.3
Baumann, M.4
Haltia, M.5
-
12
-
-
0027224115
-
Storage of saposin A and D in neuronal ceroid lipofuscinosis
-
Tyynelä J., Palmer D.N., Baumann M., Haltia M. Storage of saposin A and D in neuronal ceroid lipofuscinosis. FEBS Lett. 330:1993;8-12.
-
(1993)
FEBS Lett
, vol.330
, pp. 8-12
-
-
Tyynelä, J.1
Palmer, D.N.2
Baumann, M.3
Haltia, M.4
-
13
-
-
0029013145
-
Sphinogolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinoses
-
Tyynelä J., Baumann M., Henseler M., Sandhoff K., Haltia M. Sphinogolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinoses. Am J Med Genet. 57:1995;294-297.
-
(1995)
Am J Med Genet
, vol.57
, pp. 294-297
-
-
Tyynelä, J.1
Baumann, M.2
Henseler, M.3
Sandhoff, K.4
Haltia, M.5
-
14
-
-
0024297787
-
Coding of two sphingolipid activator proteins (SAP-1 and SAP2) by same genetic locus
-
O'Brien J.S., Krets K.A., Dewji N., Wenger D.A., Esch F., Fluharty A.L. Coding of two sphingolipid activator proteins (SAP-1 and SAP2) by same genetic locus. Science. 241:1988;1098-1101.
-
(1988)
Science
, vol.241
, pp. 1098-1101
-
-
O'Brien, J.S.1
Krets, K.A.2
Dewji, N.3
Wenger, D.A.4
Esch, F.5
Fluharty, A.L.6
-
16
-
-
0001158094
-
Eine cerebrosidsupfatase aus schweineniere
-
[Title translation: Cerebrosidesulphatase of the swine brain.]
-
Mehl E., Jazkewits H. Eine cerebrosidsupfatase aus schweineniere. Hoppe-Seyler’s Z Physiol Chem. 339:1964;260-276. [Title translation: Cerebrosidesulphatase of the swine brain.].
-
(1964)
Hoppe-Seyler’s Z Physiol Chem
, vol.339
, pp. 260-276
-
-
Mehl, E.1
Jazkewits, H.2
-
17
-
-
0025897376
-
Saposin proteins: Structure, function and role in human lysosomal storage disorders
-
O'Brien J.S., Kishimoto Y. Saposin proteins: structure, function and role in human lysosomal storage disorders. FASEB J. 5:1991;301-308.
-
(1991)
FASEB J
, vol.5
, pp. 301-308
-
-
O'Brien, J.S.1
Kishimoto, Y.2
-
18
-
-
0026100469
-
Infantile neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
-
Järvelä I., Schleutker J., Haataja L., Santavuori P., Puhakka L., Manninen T., Palotie A., Sandkuijl L.A., Renlund M., White R., Aula P., Peltonen L. Infantile neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics. 9:1991;170-173.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Järvelä, I.1
Schleutker, J.2
Haataja, L.3
Santavuori, P.4
Puhakka, L.5
Manninen, T.6
Palotie, A.7
Sandkuijl, L.A.8
Renlund, M.9
White, R.10
Aula, P.11
Peltonen, L.12
-
19
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
-
Sharp J.D., Wheeler R.B., Lake B.D., Savukoski M., Järvelä I.E., Peltonen L., Gardiner R.M., Williams R.E. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet. 6:1997;591-595.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-595
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
Savukoski, M.4
Järvelä, I.E.5
Peltonen, L.6
Gardiner, R.M.7
Williams, R.E.8
-
20
-
-
0025077094
-
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16
-
Gardiner M., Sandford A., Deadman M., Poulton J., Cookson W., Reeders S., Jokiaho I., Peltonen L., Eiberg H., Julier C. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics. 8:1990;387-390.
-
(1990)
Genomics
, vol.8
, pp. 387-390
-
-
Gardiner, M.1
Sandford, A.2
Deadman, M.3
Poulton, J.4
Cookson, W.5
Reeders, S.6
Jokiaho, I.7
Peltonen, L.8
Eiberg, H.9
Julier, C.10
-
21
-
-
0028041361
-
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
-
Savukoski M., Kestilä M., Williams R., Järvelä I., Sharp J., Harris J., Santavuori P., Gardiner M., Peltonen L. 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. 55:1994;695-701.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 695-701
-
-
Savukoski, M.1
Kestilä, M.2
Williams, R.3
Järvelä, I.4
Sharp, J.5
Harris, J.6
Santavuori, P.7
Gardiner, M.8
Peltonen, L.9
-
22
-
-
0032775827
-
A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7
-
Wheeler R.B., Sharp J.D., Mitchell W.A., Bate S.L., Williams R.E., Lake B.D., Gardiner R.M. A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7. Mol Genet Metab. 66:1999;337-338.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 337-338
-
-
Wheeler, R.B.1
Sharp, J.D.2
Mitchell, W.A.3
Bate, S.L.4
Williams, R.E.5
Lake, B.D.6
Gardiner, R.M.7
-
23
-
-
0002485197
-
Northern epilepsy
-
H.H. Goebel, S.E. Mole, & B.D. Lake. Amsterdam: IOS press
-
Haltia M., Tyynelä J., Hirvasniemi A., Herva R., Ranta S., Lehesjoki A-E. Northern epilepsy. Goebel H.H., Mole S.E., Lake B.D. The Neuronal Ceroid Lipofuscinosis (Batten disease). 1998;117-124 IOS press, Amsterdam.
-
(1998)
The Neuronal Ceroid Lipofuscinosis (Batten Disease)
, pp. 117-124
-
-
Haltia, M.1
Tyynelä, J.2
Hirvasniemi, A.3
Herva, R.4
Ranta, S.5
Lehesjoki, A.-E.6
-
24
-
-
0342618543
-
Infantile neuronal ceroid lipofuscinosis: Neuropathological aspects
-
J.A.R. D Armstrong. Amsterdam: Elsevier Biomedical Press
-
Haltia M. Infantile neuronal ceroid lipofuscinosis: neuropathological aspects. D Armstrong J.A.R. Ceroid-Lipofuscinosis (Batten’s Disease). 1982;105-115 Elsevier Biomedical Press, Amsterdam.
-
(1982)
Ceroid-Lipofuscinosis (Batten’s Disease)
, pp. 105-115
-
-
Haltia, M.1
-
25
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase 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 thioesterase 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
-
26
-
-
0027518208
-
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras
-
Camp L.A., Hofmann S.L. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J Biol Chem. 268:1993;22566-22574.
-
(1993)
J Biol Chem
, vol.268
, pp. 22566-22574
-
-
Camp, L.A.1
Hofmann, S.L.2
-
27
-
-
0024406286
-
All ras proteins are polyisoprenylated but only some are palmitoylated
-
Hancock J.F., Magee A.I., Childs J.E., Marshall C.J. All ras proteins are polyisoprenylated but only some are palmitoylated. Cell. 57:1989;1167-1177.
-
(1989)
Cell
, vol.57
, pp. 1167-1177
-
-
Hancock, J.F.1
Magee, A.I.2
Childs, J.E.3
Marshall, C.J.4
-
28
-
-
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 V.M., Jalanko A., Peltonen L. Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J. 15:1996;5240.
-
(1996)
EMBO J
, vol.15
, pp. 5240
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.M.3
Jalanko, A.4
Peltonen, L.5
-
29
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
Verkruyse L.A., Hofmann S.L. Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem. 271:1996;15831.
-
(1996)
J Biol Chem
, vol.271
, pp. 15831
-
-
Verkruyse, L.A.1
Hofmann, S.L.2
-
30
-
-
0342803576
-
Expression of palmitoyl protein thioesterase in neurons
-
Heinonen O., Kyttälä A., Lehmus E., Paunio T., Peltonen L., Jalanko A. Expression of palmitoyl protein thioesterase in neurons. Mol Gen Metab. 69:2000;123-129.
-
(2000)
Mol Gen Metab
, vol.69
, pp. 123-129
-
-
Heinonen, O.1
Kyttälä, A.2
Lehmus, E.3
Paunio, T.4
Peltonen, L.5
Jalanko, A.6
-
31
-
-
0343246480
-
A novel granular variant (GROD) from a late infantile neuronal ceroid lipofuscinosis (CLN2) is an infantile form (CLN1) when biochemically studied
-
Wisniewski K.E., Becerra C.R., Hofmann S.L. A novel granular variant (GROD) from a late infantile neuronal ceroid lipofuscinosis (CLN2) is an infantile form (CLN1) when biochemically studied. J Neuropathol Exp Neurol. 56:1997;94.
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, pp. 94
-
-
Wisniewski, K.E.1
Becerra, C.R.2
Hofmann, S.L.3
-
32
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the US
-
Das A.K., Becerra C.H.R., Yi W., Lu J-L., Siakotos A.N., Wisniewski K.E., Hofmann S.L. Molecular genetics of palmitoyl-protein thioesterase deficiency in the US. J Clin Invest. 102:1998;361-370.
-
(1998)
J Clin Invest
, vol.102
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.R.2
Yi, W.3
Lu, J.-L.4
Siakotos, A.N.5
Wisniewski, K.E.6
Hofmann, S.L.7
-
33
-
-
6844237002
-
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
Mitchison H.M., Hofmann S.L., Becerra C.H.R., Munroe P.B., Lake B.D., Crow Y.J., Stephenson J.B., Williams R.E., Hofman I.L., Taschner P.E.M.et al. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet. 7:1998;291-297.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 291-297
-
-
Mitchison, H.M.1
Hofmann, S.L.2
Becerra, C.H.R.3
Munroe, P.B.4
Lake, B.D.5
Crow, Y.J.6
Stephenson, J.B.7
Williams, R.E.8
Hofman, I.L.9
Taschner, P.E.M.10
-
34
-
-
0034712969
-
The crystal structure of palmitoyl-protein thioesterase-1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
-
in press. The authors describe the three-dimensional structure of PPT and show that the mutations resulting in the severe, INCL phenotype disturb the active site buried in the molecule, whereas the mutations resulting in the milder JNCL phenotype affect the amino acids in the periphery of the molecule
-
Bellizzi J.J., Widom J., Kemp C., Lu J-Y., Das A.K., Hofmann S.L., Clardy J. The crystal structure of palmitoyl-protein thioesterase-1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. Proc Natl Acad Sci USA. 2000;. in press. The authors describe the three-dimensional structure of PPT and show that the mutations resulting in the severe, INCL phenotype disturb the active site buried in the molecule, whereas the mutations resulting in the milder JNCL phenotype affect the amino acids in the periphery of the molecule.
-
(2000)
Proc Natl Acad Sci USA
-
-
Bellizzi, J.J.1
Widom, J.2
Kemp, C.3
Lu, J.-Y.4
Das, A.K.5
Hofmann, S.L.6
Clardy, J.7
-
35
-
-
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
-
36
-
-
0033052570
-
Classical late infantile neuronal ceroid lipofuscinosis fibroblast are deficient in lysosomal tripeptidyl peptidase I FEBS
-
Vines D.J., Warburton M.J. Classical late infantile neuronal ceroid lipofuscinosis fibroblast are deficient in lysosomal tripeptidyl peptidase I FEBS. Lett. 443:1999;131-135.
-
(1999)
Lett
, vol.443
, pp. 131-135
-
-
Vines, D.J.1
Warburton, M.J.2
-
37
-
-
0033365201
-
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storag disorder
-
Sleat D.E., Gin R.M., Sohar I., Wisniewski K., Sklower-Brooks S., Pullarkat R.K., Palmer D.N., Lerner T.J., Boustany R.M., Uldall P.et al. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storag disorder. Am J Hum Genet. 64:1999;1511-1523.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1511-1523
-
-
Sleat, D.E.1
Gin, R.M.2
Sohar, I.3
Wisniewski, K.4
Sklower-Brooks, S.5
Pullarkat, R.K.6
Palmer, D.N.7
Lerner, T.J.8
Boustany, R.M.9
Uldall, P.10
-
38
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
Isolation of a novel gene underlying Batten disease, CLN3. Cell. 82:1995;949.
-
(1995)
Cell
, vol.82
, pp. 949
-
-
-
39
-
-
0031985964
-
Biosyntesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
Järvelä I., Sainio M., Rantamäki T., Olkkonen V.M., Carpen O., Peltonen L., Jalanko A. Biosyntesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet. 7:1998;85-90.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 85-90
-
-
Järvelä, I.1
Sainio, M.2
Rantamäki, T.3
Olkkonen, V.M.4
Carpen, O.5
Peltonen, L.6
Jalanko, A.7
-
40
-
-
0032905252
-
Action of TEN1, the yeast orthologue of the gene mutated in batten disease
-
The authors demonstrate elegantly how a model organism, yeast, can be used to provide more understanding of the biological function of a molecule. The deletion mutant of the yeast orthologue was found to be resistant to the chemical aminonitrophenyl propanediol when grown at low pH and this resistance was complemented by human CLN3. These findings provide evidence for a yeast othologue for the Batten gene and offers an approach to analyze the molecular pathway, defective in JNCL, using the yeast model
-
Pearce D.A., Ferea T., Nosel S.A., Das B., Sherman F. Action of TEN1, the yeast orthologue of the gene mutated in batten disease. Nat Genet. 22:1999;55-58. The authors demonstrate elegantly how a model organism, yeast, can be used to provide more understanding of the biological function of a molecule. The deletion mutant of the yeast orthologue was found to be resistant to the chemical aminonitrophenyl propanediol when grown at low pH and this resistance was complemented by human CLN3. These findings provide evidence for a yeast othologue for the Batten gene and offers an approach to analyze the molecular pathway, defective in JNCL, using the yeast model.
-
(1999)
Nat Genet
, vol.22
, pp. 55-58
-
-
Pearce, D.A.1
Ferea, T.2
Nosel, S.A.3
Das, B.4
Sherman, F.5
-
41
-
-
0030855171
-
BTN1, a yeast gene corresponding to the human gene responsible for Batten’s disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase
-
Pearce D.A., Sherman F. BTN1, a yeast gene corresponding to the human gene responsible for Batten’s disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase. Yeast. 13:1997;691-697.
-
(1997)
Yeast
, vol.13
, pp. 691-697
-
-
Pearce, D.A.1
Sherman, F.2
-
43
-
-
0023892434
-
Kufs' disease: A critical reappraisal
-
Berkovic S.F., Carpenter S., Andermann F., Andermann E., Wolfe L.S. Kufs' disease: a critical reappraisal. Brain. 111:1988;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
-
44
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
-
The authors of this paper describe the positional cloning of the gene mutated in the variant of LINCL. Large-scale sequencing and transcript prediction of the critical DNA region provides the basis for the mutation identification in vLINCL patients. Just as in JNCL, a gene with no homologies in databases encoding a protein with membrane-spanning domains was identified
-
Savukoski M., Klockars T., Holmberg V., Santavuori P., Lander E.S., Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet. 19:1998;286-288. The authors of this paper describe the positional cloning of the gene mutated in the variant of LINCL. Large-scale sequencing and transcript prediction of the critical DNA region provides the basis for the mutation identification in vLINCL patients. Just as in JNCL, a gene with no homologies in databases encoding a protein with membrane-spanning domains was identified.
-
(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
-
45
-
-
0000832304
-
Turkish variant late infantile NCL
-
H.H. Goebel, S.E. Mile, & B.D. Lake. Amsterdam: IOS Press
-
William R.E., Topcu M., Lake B.D., Mitchell W., Mole S.E. Turkish variant late infantile NCL. Goebel H.H., Mile S.E., Lake B.D. The Neuronal Ceroid Lipofuscinosis (Batten Disease). 1999;114-116 IOS Press, Amsterdam.
-
(1999)
The Neuronal Ceroid Lipofuscinosis (Batten Disease)
, pp. 114-116
-
-
William, R.E.1
Topcu, M.2
Lake, B.D.3
Mitchell, W.4
Mole, S.E.5
-
46
-
-
0028345785
-
Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration
-
Hirvasniemi A., Lang H., Lehesjoki A-E., Leisti J. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J Med Genet. 31:1994;177-182.
-
(1994)
J Med Genet
, vol.31
, pp. 177-182
-
-
Hirvasniemi, A.1
Lang, H.2
Lehesjoki, A.-E.3
Leisti, J.4
-
47
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and MND mutant mice are associated with mutations in CLN8
-
A new subtype of NCL disorder is identified when the causative gene for Northern epilepsy is identified by a positional cloning strategy. The mutation in the mouse orthologue is found in MND mice, described earlier as a naturally occurring mouse model for NCL disorders. The gene encodes a protein with unknown function but predicted transmembrane domains
-
Ranta S., Zhang Y., Ross B., Lonka Takkunen E., Messer A., Sharp J., Wheeler R., Kusumi K., Mole S., Liu W.et al. The neuronal ceroid lipofuscinoses in human EPMR and MND mutant mice are associated with mutations in CLN8. Nat Genet. 23:1999;233-236. A new subtype of NCL disorder is identified when the causative gene for Northern epilepsy is identified by a positional cloning strategy. The mutation in the mouse orthologue is found in MND mice, described earlier as a naturally occurring mouse model for NCL disorders. The gene encodes a protein with unknown function but predicted transmembrane domains.
-
(1999)
Nat Genet
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
Lonka Takkunen, E.4
Messer, A.5
Sharp, J.6
Wheeler, R.7
Kusumi, K.8
Mole, S.9
Liu, W.10
-
48
-
-
0032813546
-
A murine model for juvenile NCL: Gene targeting of mouse CLN3
-
Greene N.D.E., Bernard D.L., Taschner P.E.M., Lake B.D., de Vos N., Breuning M.H., Gardiner R.M., Mole S.E., Nussbaum R.L., Mitchison H.M. A murine model for juvenile NCL: gene targeting of mouse CLN3. Mol Genet Metab. 66:1999;309-313.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 309-313
-
-
Greene, N.D.E.1
Bernard, D.L.2
Taschner, P.E.M.3
Lake, B.D.4
De Vos, N.5
Breuning, M.H.6
Gardiner, R.M.7
Mole, S.E.8
Nussbaum, R.L.9
Mitchison, H.M.10
-
49
-
-
0033566801
-
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease)
-
Katz M.L., Shibuya H., Liu P.C., Kaur S., Gao C.L., Johnson G.S. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J Neurosci Res. 57:1999;551-556.
-
(1999)
J Neurosci Res
, vol.57
, pp. 551-556
-
-
Katz, M.L.1
Shibuya, H.2
Liu, P.C.3
Kaur, S.4
Gao, C.L.5
Johnson, G.S.6
-
50
-
-
0032744277
-
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease
-
Mitchison H.M., Bernard D.J., Greene N.D., Cooper J.D., Junaid M.A., Pullarkat R.K., de Vos N., Breuning M.H., Owens J.W., Mobleyet al. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol Dis. 6:1999;321-334.
-
(1999)
Neurobiol Dis
, vol.6
, pp. 321-334
-
-
Mitchison, H.M.1
Bernard, D.J.2
Greene, N.D.3
Cooper, J.D.4
Junaid, M.A.5
Pullarkat, R.K.6
De Vos, N.7
Breuning, M.H.8
Owens, J.W.9
Mobley10
-
51
-
-
0032427786
-
Batten disease: Four genes and still counting
-
Mole S.E. Batten disease: four genes and still counting. Neurobiol Disease. 5:1998;287-303.
-
(1998)
Neurobiol Disease
, vol.5
, pp. 287-303
-
-
Mole, S.E.1
-
52
-
-
0031047001
-
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis
-
Palmer D.N., Tyynela J., van Mil H.C., Westlake V.J., Jolly R.D. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis. J Inher Metab Dis. 20:1997;74-84.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 74-84
-
-
Palmer, D.N.1
Tyynela, J.2
Van Mil, H.C.3
Westlake, V.J.4
Jolly, R.D.5
-
53
-
-
0032080693
-
Coding sequence and exon/intron organization of the canine CLN3 (Batten Disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs
-
Shibuya H., Liu P.C., Katz M.L., Siakotos A.N., Nonneman D.J., Johnsson G.S. Coding sequence and exon/intron organization of the canine CLN3 (Batten Disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs. J Neurosci Res. 52:1998;268-275.
-
(1998)
J Neurosci Res
, vol.52
, pp. 268-275
-
-
Shibuya, H.1
Liu, P.C.2
Katz, M.L.3
Siakotos, A.N.4
Nonneman, D.J.5
Johnsson, G.S.6
-
55
-
-
0031846129
-
Ovine neuronal ceroid lipofuscinosis: A large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6
-
Broom M.F., Zhou C., Broom J.E., Barwell K.J., Jolly R.D., Hill D.F. Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. J Med Genet. 35:1998;717-721.
-
(1998)
J Med Genet
, vol.35
, pp. 717-721
-
-
Broom, M.F.1
Zhou, C.2
Broom, J.E.3
Barwell, K.J.4
Jolly, R.D.5
Hill, D.F.6
-
56
-
-
0027302564
-
An animal model of the infantile type of neuronal ceroid lipofuscinosis
-
Järplid B., Haltia M. An animal model of the infantile type of neuronal ceroid lipofuscinosis. J Inher Metab Dis. 16:1993;274-277.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 274-277
-
-
Järplid, B.1
Haltia, M.2
-
57
-
-
0032557726
-
Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9
-
Bronson R.T., Donahue L.R., Johnson K.R., Tanner A., Lane P.W., Faust J.R. Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet. 77:1998;289-297.
-
(1998)
Am J Med Genet
, vol.77
, pp. 289-297
-
-
Bronson, R.T.1
Donahue, L.R.2
Johnson, K.R.3
Tanner, A.4
Lane, P.W.5
Faust, J.R.6
-
58
-
-
0027453099
-
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten’s disease)
-
Bronson R.T., Lake B.D., Cook S., Taylor S., Davisson M.T. Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten’s disease). Ann Neurol. 33:1993;381-385.
-
(1993)
Ann Neurol
, vol.33
, pp. 381-385
-
-
Bronson, R.T.1
Lake, B.D.2
Cook, S.3
Taylor, S.4
Davisson, M.T.5
-
59
-
-
0024191250
-
Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid lipofuscinosis
-
MacLeod P.M., Nag S., Berry C. Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid lipofuscinosis. Am J Med Genet. 5(Suppl):1988;93-97.
-
(1988)
Am J Med Genet
, vol.5
, pp. 93-97
-
-
MacLeod, P.M.1
Nag, S.2
Berry, C.3
-
60
-
-
0025029414
-
Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi
-
Rapola J., Salonen R., Ämmälä P., Santavuori P. Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi. Prenat Diagn. 10:1990;553-559.
-
(1990)
Prenat Diagn
, vol.10
, pp. 553-559
-
-
Rapola, J.1
Salonen, R.2
Ämmälä, P.3
Santavuori, P.4
-
61
-
-
0026048547
-
Infantile neuronal ceroid lip0ofuscinosis (CLN1): Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus
-
Järvelä I. Infantile neuronal ceroid lip0ofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. Genomics. 10:1991;333-337.
-
(1991)
Genomics
, vol.10
, pp. 333-337
-
-
Järvelä, I.1
-
62
-
-
0030454016
-
Rapid disgnostic test for the major mutation underlying Batten disease
-
Järvelä I.E., Mitchison H.M., Munroe P.B., O'Rawe A.M., Mole S.E., Syvänen A-C. Rapid disgnostic test for the major mutation underlying Batten disease. J Med Genet. 33:1996;1041-1042.
-
(1996)
J Med Genet
, vol.33
, pp. 1041-1042
-
-
Järvelä, I.E.1
Mitchison, H.M.2
Munroe, P.B.3
O'Rawe, A.M.4
Mole, S.E.5
Syvänen, A.-C.6
-
63
-
-
0029985624
-
Prenatal diagnosis of Batten disease
-
Munroe P.B., Rapola J., Mitchison H.M., Mole S.E., Gardiner R.M., Järvelä I.E. Prenatal diagnosis of Batten disease. Lancet. 347:1996;1014-1015.
-
(1996)
Lancet
, vol.347
, pp. 1014-1015
-
-
Munroe, P.B.1
Rapola, J.2
Mitchison, H.M.3
Mole, S.E.4
Gardiner, R.M.5
Järvelä, I.E.6
-
64
-
-
0344849475
-
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL; CLN5)
-
Rapola J., Lähdetie J., Isosomppi J., Helminen P., Penttinen M., Järvelä I. Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL; CLN5). Prenat Diagn. 19:1999;685-688.
-
(1999)
Prenat Diagn
, vol.19
, pp. 685-688
-
-
Rapola, J.1
Lähdetie, J.2
Isosomppi, J.3
Helminen, P.4
Penttinen, M.5
Järvelä, I.6
-
65
-
-
0033063315
-
A new simple enzyme assay for pre- And postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
-
Voznyi Y.V., Keulemans J.L.M., Mancini G.M.S., Catsman-Berrevoets C.E., Young E., Winchester B., Kleijer W.J., van Diggelen O.P. A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. J Med Genet. 36:1999;471-474.
-
(1999)
J Med Genet
, vol.36
, pp. 471-474
-
-
Voznyi, Y.V.1
Keulemans, J.L.M.2
Mancini, G.M.S.3
Catsman-Berrevoets, C.E.4
Young, E.5
Winchester, B.6
Kleijer, W.J.7
Van Diggelen, O.P.8
-
66
-
-
0033960766
-
Prenatal testing for late infantile neuronal ceroid lipofuscinosis
-
Berry-Kravis E., Sleat D.E., Sohar I., Meyer P., Donnelly R., Lobel P. Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 47:2000;254-257.
-
(2000)
Ann Neurol
, vol.47
, pp. 254-257
-
-
Berry-Kravis, E.1
Sleat, D.E.2
Sohar, I.3
Meyer, P.4
Donnelly, R.5
Lobel, P.6
-
67
-
-
0031984341
-
Prenatal diagnosis of lysosomal storage diseases
-
Lake B.D., Young E.P., Winchester B.G. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 8:1998;133-149.
-
(1998)
Brain Pathol
, vol.8
, pp. 133-149
-
-
Lake, B.D.1
Young, E.P.2
Winchester, B.G.3
-
68
-
-
0024450299
-
Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16
-
Eiberg H., Gardiner R.M., Mohr J. Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): indication of linkage and assignment to chromosome 16. Clin Genet. 36:1989;217-218.
-
(1989)
Clin Genet
, vol.36
, pp. 217-218
-
-
Eiberg, H.1
Gardiner, R.M.2
Mohr, J.3
-
69
-
-
0028237047
-
The gene for recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
-
Tahvanainen E., Ranta S., Hirvasniemi A., Karila E., Leisti J., Sistonen P., Weissenbach J., Lehesjoki A-E., de la Chapelle A. The gene for recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA. 91:1994;7267-7270.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
Karila, E.4
Leisti, J.5
Sistonen, P.6
Weissenbach, J.7
Lehesjoki, A.-E.8
De La Chapelle, A.9
|