-
1
-
-
0023917534
-
Neuronal ceroid lipofuscinosis in childhood
-
Santavuori, P. (1988) Neuronal ceroid lipofuscinosis in childhood. Brain Dev., 10, 80-83.
-
(1988)
Brain Dev
, vol.10
, pp. 80-83
-
-
Santavuori, P.1
-
2
-
-
25844517550
-
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
-
Mole, S.E., Williams, R.E. and Goebel, H.H. (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenet., 6, 107-126.
-
(2005)
Neurogenet
, vol.6
, pp. 107-126
-
-
Mole, S.E.1
Williams, R.E.2
Goebel, H.H.3
-
3
-
-
33750984767
-
Molecular genetics of the NCLs - status and perspectives
-
Siintola, E., Lehesjoki, A.E. and Mole, S.E. (2006) Molecular genetics of the NCLs - status and perspectives. Biochim. Biophys. Acta, 1762, 857-864.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 857-864
-
-
Siintola, E.1
Lehesjoki, A.E.2
Mole, S.E.3
-
4
-
-
33748779034
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
-
Poët, M., Komak, U., Schweizer, M., Zdebik A.A., Scheel, O., Hoelter, S., Wurst, W., Schmitt, A., Fuhrmann, J.C., Planells-Cases, R. et al. (2006) Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc. Natl Acad. Sci. USA, 103, 13854-13859.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 13854-13859
-
-
Poët, M.1
Komak, U.2
Schweizer, M.3
Zdebik, A.A.4
Scheel, O.5
Hoelter, S.6
Wurst, W.7
Schmitt, A.8
Fuhrmann, J.C.9
Planells-Cases, R.10
-
5
-
-
34347253609
-
The novel neuronal ceroid lipofusinosis gene MFSD8 encodes a putative lysosomal transporter
-
Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B.A., Paterson, A.M., Liu, X-Q., Wilson, C., Lahtinen, U., Anottonen, A.-K. et al. (2007) The novel neuronal ceroid lipofusinosis gene MFSD8 encodes a putative lysosomal transporter. Am. J. Hum. Genet., 81, 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.M.6
Liu, X.-Q.7
Wilson, C.8
Lahtinen, U.9
Anottonen, A.-K.10
-
6
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The International Batten Disease Consortium
-
The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell, 82, 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
7
-
-
30544437316
-
btn1, the fission yeast homologue of the human Batten disease gene, CLN3, regulates vacuole homeostasis
-
Gachet, Y., Codlin, S., Hyams, J.S. and Mole, S.E. (2005) btn1, the fission yeast homologue of the human Batten disease gene, CLN3, regulates vacuole homeostasis. J. Cell Sci., 118, 5525-5536.
-
(2005)
J. Cell Sci
, vol.118
, pp. 5525-5536
-
-
Gachet, Y.1
Codlin, S.2
Hyams, J.S.3
Mole, S.E.4
-
8
-
-
16944364280
-
Spectrum of mutations in the Batten disease gene, CLN3
-
Munroe, P.B., Mitchison, H.M., O'Rawe, A.M., Anderson, J.W., Boustany, R.-M., Lerner, T.J., Taschner, P.E.M., de Vos, N., Breuning, M.H., Gardiner, R.M. 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
Anderson, J.W.4
Boustany, R.-M.5
Lerner, T.J.6
Taschner, P.E.M.7
de Vos, N.8
Breuning, M.H.9
Gardiner, R.M.10
-
9
-
-
0344867852
-
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
-
Järvelä, I., Lehtovirta, M., Tikkanen, R., Kyttälä, A. and Jalanko, A. (1999) Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum. Mol. Genet., 8 1091-1098.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 1091-1098
-
-
Järvelä, I.1
Lehtovirta, M.2
Tikkanen, R.3
Kyttälä, A.4
Jalanko, A.5
-
10
-
-
0037107348
-
Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
-
Cotman, S.L., Vrbanac, V., Lebel, L.A., Lee, R.L., Johnson, K.A., Donahue, L.R., Teed, A.M., Antonellis, K., Bronson, R.T., Lerner, T.J. et al. (2002) Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum. Mol. Genet., 11 2709-2721.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 2709-2721
-
-
Cotman, S.L.1
Vrbanac, V.2
Lebel, L.A.3
Lee, R.L.4
Johnson, K.A.5
Donahue, L.R.6
Teed, A.M.7
Antonellis, K.8
Bronson, R.T.9
Lerner, T.J.10
-
11
-
-
0033566801
-
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease)
-
Katz, M.L., Shibuya, H., P.C., Kant, S., Gao, C.L. and Johnson, G.S. (1999) A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J. Neurosci. Res., 57, 551-556.
-
(1999)
J. Neurosci. Res
, vol.57
, pp. 551-556
-
-
Katz, M.L.1
Shibuya, H.P.C.2
Kant, S.3
Gao, C.L.4
Johnson, G.S.5
-
12
-
-
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., Mobley, W.C. et al. (1999) Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol. Dis., 6 321-334.
-
(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
Mobley, W.C.10
-
13
-
-
34548601631
-
A knock-in reporter model of Batten's disease
-
Eliason, S.L., Stein, C.S., Mao, Q., Tecedor, L., Ding, S.-L., Gaines, D.M. and Davidson, B.L. (2007) A knock-in reporter model of Batten's disease. J. Neurosci., 27, 9826-9834.
-
(2007)
J. Neurosci
, vol.27
, pp. 9826-9834
-
-
Eliason, S.L.1
Stein, C.S.2
Mao, Q.3
Tecedor, L.4
Ding, S.-L.5
Gaines, D.M.6
Davidson, B.L.7
-
14
-
-
0032905252
-
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease
-
Pearce, D.A., Ferea, T., Nosel, S.A., Das, B. and Sherman, F. (1999) Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. Nat. Genet., 22, 55-58.
-
(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
-
15
-
-
0347364649
-
A role in vacuolar arginine transport for yeast Btn1 p and for human CLN3, the protein defective in Batten disease
-
Kim, Y., Ramirez-Montealegre, D. and Pearce, D.A. (2003) A role in vacuolar arginine transport for yeast Btn1 p and for human CLN3, the protein defective in Batten disease. Proc. Natl Acad. Sci. USA, 100, 15458-15462.
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 15458-15462
-
-
Kim, Y.1
Ramirez-Montealegre, D.2
Pearce, D.A.3
-
16
-
-
33744530432
-
Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity in order to regulate pH imbalance in the vacuole
-
Padilla-Lopez, S. and Pearce, D.A. (2006) Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity in order to regulate pH imbalance in the vacuole. J. Biol. Chem., 281, 10273-10280.
-
(2006)
J. Biol. Chem
, vol.281
, pp. 10273-10280
-
-
Padilla-Lopez, S.1
Pearce, D.A.2
-
17
-
-
0032499745
-
A yeast model for the study of Batten disease
-
Pearce, D.A. and 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
-
18
-
-
0032544574
-
The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease
-
Croopnick, J.B., Choi, H.C. and Mueller, D.M. (1998) The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease. Biochem. Biophys. Res. Commun., 250, 335-341.
-
(1998)
Biochem. Biophys. Res. Commun
, vol.250
, pp. 335-341
-
-
Croopnick, J.B.1
Choi, H.C.2
Mueller, D.M.3
-
19
-
-
0035170833
-
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
-
Holopainen, J.M., Saarikoski, J., Kinnunen, P.Y, and Järvelä, I. (2001) Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). Eur. J. Biochem., 268, 5851-5856.
-
(2001)
Eur. J. Biochem
, vol.268
, pp. 5851-5856
-
-
Holopainen, J.M.1
Saarikoski, J.2
Kinnunen, P.Y.3
Järvelä, I.4
-
20
-
-
23644448261
-
Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
-
Kwon, J.M., Rothberg, P.G., Leman, A.R., Weimer, J.M., Mink, J.W. and Pearce, D.A. (2005) Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci. Lett., 387, 111-114.
-
(2005)
Neurosci. Lett
, vol.387
, pp. 111-114
-
-
Kwon, J.M.1
Rothberg, P.G.2
Leman, A.R.3
Weimer, J.M.4
Mink, J.W.5
Pearce, D.A.6
-
21
-
-
33845498667
-
Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis
-
Traboulsi, E.I., Koenekoop, R. and Stone, E.M. (2006) Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. Ophthalmic Genet., 27, 113-115.
-
(2006)
Ophthalmic Genet
, vol.27
, pp. 113-115
-
-
Traboulsi, E.I.1
Koenekoop, R.2
Stone, E.M.3
-
22
-
-
23644433670
-
Inherited disorders of voltage-gated sodium channels
-
George, A.L., Jr (2005) Inherited disorders of voltage-gated sodium channels. J. Clin. Invest., 115, 1990-1999.
-
(2005)
J. Clin. Invest
, vol.115
, pp. 1990-1999
-
-
George Jr, A.L.1
-
23
-
-
33847168937
-
SCN9A mutations in paroxysmal extreme pain disorder: Allelic variants underlie distinct channel defects and phenotypes
-
Fertleman, C.R., Baker, M.D., Parker, K.A., Moffatt, S., Elmslie, F.V., Abrahamsen, B., Ostman, J., Klugbauer, N., Wood, J.N., Gardiner, R.M. et al. (2006) SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron, 52, 767-774.
-
(2006)
Neuron
, vol.52
, pp. 767-774
-
-
Fertleman, C.R.1
Baker, M.D.2
Parker, K.A.3
Moffatt, S.4
Elmslie, F.V.5
Abrahamsen, B.6
Ostman, J.7
Klugbauer, N.8
Wood, J.N.9
Gardiner, R.M.10
-
24
-
-
33645002735
-
Life cycle of connexins in health and disease
-
Laird, D.W. (2006) Life cycle of connexins in health and disease. Biochem. J., 394, 527-543.
-
(2006)
Biochem. J
, vol.394
, pp. 527-543
-
-
Laird, D.W.1
-
25
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S. et al. (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat. Genet., 23, 233-236.
-
(1999)
Nat. Genet
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
Lonka, L.4
Takkunen, E.5
Messer, A.6
Sharp, J.7
Wheeler, R.8
Kusumi, K.9
Mole, S.10
-
26
-
-
28644433538
-
Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre
-
Anderson, G., Smith, V.V., Malone, M. and Sebire, N.J. (2005) Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre. J Clin. Pathol., 58, 1305-1310.
-
(2005)
J Clin. Pathol
, vol.58
, pp. 1305-1310
-
-
Anderson, G.1
Smith, V.V.2
Malone, M.3
Sebire, N.J.4
-
27
-
-
33645464201
-
Leading causes of certification for blindness and partial sight in England & Wales
-
Bunce, C.V. and Wormwald, R. (2006) Leading causes of certification for blindness and partial sight in England & Wales. BMC Public Health, 6, 58.
-
(2006)
BMC Public Health
, vol.6
, pp. 58
-
-
Bunce, C.V.1
Wormwald, R.2
-
28
-
-
33644956860
-
Molecular diagnostics of genetic eye diseases
-
Fan, B., Tam, P., Choy, K., Wang, D., Lan, D. and Pang, C. (2006) Molecular diagnostics of genetic eye diseases. Clin. Biochem., 39, 231-239.
-
(2006)
Clin. Biochem
, vol.39
, pp. 231-239
-
-
Fan, B.1
Tam, P.2
Choy, K.3
Wang, D.4
Lan, D.5
Pang, C.6
-
29
-
-
27744541421
-
Classification of stillbirth by relevant condition at death (ReCoDe): Population based cohort study
-
Gardosi, J., Kady, S.M., McGeown, P., Francis, A. and Tonks, A. (2005) Classification of stillbirth by relevant condition at death (ReCoDe): population based cohort study. BMJ, 331, 1113-1117.
-
(2005)
BMJ
, vol.331
, pp. 1113-1117
-
-
Gardosi, J.1
Kady, S.M.2
McGeown, P.3
Francis, A.4
Tonks, A.5
-
30
-
-
21944456990
-
-
Jimenez-Escrig, A., Gomez-Tortosa, E., Baron, M., Rabano, A., Arcos-Burgos, M., Palacios, L.G., Yusta, A., Anta, P., Perez, I., Hierro, M. et al. (2005) A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes. Brain, 128, 1707-1715.
-
Jimenez-Escrig, A., Gomez-Tortosa, E., Baron, M., Rabano, A., Arcos-Burgos, M., Palacios, L.G., Yusta, A., Anta, P., Perez, I., Hierro, M. et al. (2005) A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes. Brain, 128, 1707-1715.
-
-
-
-
31
-
-
0023779529
-
Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes
-
Gottlob, I., Leipert, K.P., Kohischutter, A. and Goebel, H.H. (1988) Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefis Arch. Clin. Exp. Ophthalmol., 226, 516-521.
-
(1988)
Graefis Arch. Clin. Exp. Ophthalmol
, vol.226
, pp. 516-521
-
-
Gottlob, I.1
Leipert, K.P.2
Kohischutter, A.3
Goebel, H.H.4
-
32
-
-
33845293272
-
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase
-
Narayan, S.B., Rakheja, D., Tan, L., Pastor, J.V. and Bennett, M.J. (2006) CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann. Neurol., 60, 570-577.
-
(2006)
Ann. Neurol
, vol.60
, pp. 570-577
-
-
Narayan, S.B.1
Rakheja, D.2
Tan, L.3
Pastor, J.V.4
Bennett, M.J.5
-
33
-
-
0026025891
-
Molecular genetic analysis of fission yeast Schizoyaccharomyces pombe
-
Moreno, S., Klar, A. and Nurse, P. (1991) Molecular genetic analysis of fission yeast Schizoyaccharomyces pombe. Methods Enzymol., 194 795-823.
-
(1991)
Methods Enzymol
, vol.194
, pp. 795-823
-
-
Moreno, S.1
Klar, A.2
Nurse, P.3
-
34
-
-
0024604525
-
Using the polymerase chain reaction to modify expression plasmids for epitope mapping
-
Mole, S.E., Iggo, R.D. and Lane, D.P. (1989) Using the polymerase chain reaction to modify expression plasmids for epitope mapping. Nucl. Acids Res., 17, 3319.
-
(1989)
Nucl. Acids Res
, vol.17
, pp. 3319
-
-
Mole, S.E.1
Iggo, R.D.2
Lane, D.P.3
-
35
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods, 25, 402-408.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
|