-
1
-
-
0000665299
-
The Neuronal Ceroid Lipofuscinoses
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Hofmann S.L., and Peltonen L. The Neuronal Ceroid Lipofuscinoses. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease (2001), McGraw-Hill, New York 3877-3894
-
(2001)
The metabolic and molecular basis of inherited disease
, pp. 3877-3894
-
-
Hofmann, S.L.1
Peltonen, L.2
-
2
-
-
0002528505
-
The neuronal ceroid lipofuscinoses (Batten disease)
-
Mole SE, Goebel HH, Williams R, editors, 2nd ed, Amsterdam: IOS Press;
-
Mole SE, Goebel HH, Williams R, editors. The neuronal ceroid lipofuscinoses (Batten disease). 2nd ed. Biomedical and Health Research. Amsterdam: IOS Press; 2009.
-
(2009)
Biomedical and Health Research
-
-
-
3
-
-
62949195147
-
Neuronal Ceroid Lipofuscinoses. BBA Mol
-
in press, doi:10.1016/j.bbamcr.2008.11.004
-
Jalanko A, Braulke T. Neuronal Ceroid Lipofuscinoses. BBA Mol Cell Res, in press, doi:10.1016/j.bbamcr.2008.11.004.
-
Cell Res
-
-
Jalanko, A.1
Braulke, T.2
-
4
-
-
33846706777
-
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
-
Ramadan H., Al-Din A.S., Ismail A., Balen F., Varma A., Twomey A., et al. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology 68 (2007) 387-388
-
(2007)
Neurology
, vol.68
, pp. 387-388
-
-
Ramadan, H.1
Al-Din, A.S.2
Ismail, A.3
Balen, F.4
Varma, A.5
Twomey, A.6
-
5
-
-
33645658751
-
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis
-
Lu J.Y., and Hofmann S.L. Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis. J Inherit Metab Dis 29 (2006) 119-126
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 119-126
-
-
Lu, J.Y.1
Hofmann, S.L.2
-
6
-
-
42149170223
-
Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies
-
Guillaume D.J., Huhn S.L., Selden N.R., and Steiner R.D. Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies. Neurosurg Focus 24 (2008) E22
-
(2008)
Neurosurg Focus
, vol.24
-
-
Guillaume, D.J.1
Huhn, S.L.2
Selden, N.R.3
Steiner, R.D.4
-
7
-
-
44349136847
-
Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA
-
Worgall S., Sondhi D., Hackett N.R., Kosofsky B., Kekatpure M.V., Neyzi N., et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther 19 (2008) 463-474
-
(2008)
Hum Gene Ther
, vol.19
, pp. 463-474
-
-
Worgall, S.1
Sondhi, D.2
Hackett, N.R.3
Kosofsky, B.4
Kekatpure, M.V.5
Neyzi, N.6
-
8
-
-
41149092265
-
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis
-
Chang M., Cooper J.D., Sleat D.E., Cheng S.H., Dodge J.C., Passini M.A., et al. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 16 (2008) 649-656
-
(2008)
Mol Ther
, vol.16
, pp. 649-656
-
-
Chang, M.1
Cooper, J.D.2
Sleat, D.E.3
Cheng, S.H.4
Dodge, J.C.5
Passini, M.A.6
-
9
-
-
37849028611
-
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
-
Kitzmuller C., Haines R.L., Codlin S., Cutler D.F., and Mole S.E. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet 17 (2008) 303-312
-
(2008)
Hum Mol Genet
, vol.17
, pp. 303-312
-
-
Kitzmuller, C.1
Haines, R.L.2
Codlin, S.3
Cutler, D.F.4
Mole, S.E.5
-
10
-
-
41649087313
-
Intermittent prednisolone and autoantibodies to GAD65 in juvenile neuronal ceroid lipofuscinosis
-
Aberg L., Talling M., Harkonen T., Lönnqvist T., Knip M., Alen R., et al. Intermittent prednisolone and autoantibodies to GAD65 in juvenile neuronal ceroid lipofuscinosis. Neurology 70 (2008) 1218-1220
-
(2008)
Neurology
, vol.70
, pp. 1218-1220
-
-
Aberg, L.1
Talling, M.2
Harkonen, T.3
Lönnqvist, T.4
Knip, M.5
Alen, R.6
-
11
-
-
22544469698
-
A clinical rating scale for Batten disease: reliable and relevant for clinical trials
-
Marshall F.J., de Blieck E.A., Mink J.W., Dure L., Adams H., Messing S., et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 65 (2005) 275-279
-
(2005)
Neurology
, vol.65
, pp. 275-279
-
-
Marshall, F.J.1
de Blieck, E.A.2
Mink, J.W.3
Dure, L.4
Adams, H.5
Messing, S.6
-
13
-
-
34547819263
-
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis
-
Cannelli N., Nardocci N., Cassandrini D., Morbin M., Aiello C., Bugiani M., et al. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 38 (2007) 46-49
-
(2007)
Neuropediatrics
, vol.38
, pp. 46-49
-
-
Cannelli, N.1
Nardocci, N.2
Cassandrini, D.3
Morbin, M.4
Aiello, C.5
Bugiani, M.6
-
14
-
-
34347253609
-
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
-
Siintola E., Topcu M., Aula N., Lohi H., Minassian B.A., Paterson A.D., et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 81 (2007) 136-146
-
(2007)
Am J Hum Genet
, vol.81
, pp. 136-146
-
-
Siintola, E.1
Topcu, M.2
Aula, N.3
Lohi, H.4
Minassian, B.A.5
Paterson, A.D.6
-
15
-
-
34249877686
-
A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
-
Zelnik N., Mahajna M., Iancu T.C., Sharony R., and Zeigler M. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?. Pediatr Neurol 36 (2007) 411-413
-
(2007)
Pediatr Neurol
, vol.36
, pp. 411-413
-
-
Zelnik, N.1
Mahajna, M.2
Iancu, T.C.3
Sharony, R.4
Zeigler, M.5
-
16
-
-
33646356745
-
The CLN9 protein, a regulator of dihydroceramide synthase
-
Schulz A., Mousallem T., Venkataramani M., Persaud-Sawin D.A., Zucker A., Luberto C., et al. The CLN9 protein, a regulator of dihydroceramide synthase. J Biol Chem 281 (2006) 2784-2794
-
(2006)
J Biol Chem
, vol.281
, pp. 2784-2794
-
-
Schulz, A.1
Mousallem, T.2
Venkataramani, M.3
Persaud-Sawin, D.A.4
Zucker, A.5
Luberto, C.6
-
17
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
Siintola E., Partanen S., Stromme P., Haapanen A., Haltia M., Maehlen J., et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129 (2006) 1438-1445
-
(2006)
Brain
, vol.129
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Stromme, P.3
Haapanen, A.4
Haltia, M.5
Maehlen, J.6
-
18
-
-
33646871344
-
Cathepsin D deficiency is associated with a human neurodegenerative disorder
-
Steinfeld R., Reinhardt K., Schreiber K., Hillebrand M., Kraetzner R., Bruck W., et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78 (2006) 988-998
-
(2006)
Am J Hum Genet
, vol.78
, pp. 988-998
-
-
Steinfeld, R.1
Reinhardt, K.2
Schreiber, K.3
Hillebrand, M.4
Kraetzner, R.5
Bruck, W.6
-
19
-
-
33748779034
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
-
Poet M., Kornak U., Schweizer M., Zdebik A.A., Scheel O., Hoelter S., et al. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci USA 103 (2006) 13854-13859
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 13854-13859
-
-
Poet, M.1
Kornak, U.2
Schweizer, M.3
Zdebik, A.A.4
Scheel, O.5
Hoelter, S.6
-
20
-
-
52949129457
-
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses
-
Pierret C., Morrison J.A., and Kirk M.D. Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. Acta Neurobiol Exp (Wars) 68 (2008) 429-442
-
(2008)
Acta Neurobiol Exp (Wars)
, vol.68
, pp. 429-442
-
-
Pierret, C.1
Morrison, J.A.2
Kirk, M.D.3
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