-
1
-
-
10644282870
-
Lysosomal defects and storage
-
(Platt, F.M. and Walkley, S.U., eds), Oxford University Press, Oxford
-
Platt, F.M. and Walkley, S.U. (2004) Lysosomal defects and storage. In Lysosomal Disorders of the Brain (Platt, F.M. and Walkley, S.U., eds), pp.32-49, Oxford University Press, Oxford
-
(2004)
Lysosomal Disorders of the Brain
, pp. 32-49
-
-
Platt, F.M.1
Walkley, S.U.2
-
2
-
-
14144255733
-
Lysosomal storage disorders
-
Vellodi, A. (2005) Lysosomal storage disorders. Br. J. Haematol. 128, 413-431
-
(2005)
Br. J. Haematol.
, vol.128
, pp. 413-431
-
-
Vellodi, A.1
-
4
-
-
78649741254
-
Neuronal ceroid lipofuscinosis
-
(Kompoliti, K. and Verhagen Metman, L., eds), Academic Press, Oxford
-
Cooper, J.D. (2010) Neuronal ceroid lipofuscinosis. In Encyclopedia of Movement Disorders, vol. 2 (Kompoliti, K. and Verhagen Metman, L., eds), pp. 291-295, Academic Press, Oxford
-
(2010)
Encyclopedia of Movement Disorders
, vol.2
, pp. 291-295
-
-
Cooper, J.D.1
-
5
-
-
1642499253
-
Variations in neurodegenerative disease across the UK: Findings from the national study of Progressive Intellectual and Neurological Deterioration (PIND)
-
Devereux, G., Stellitano, L., Verity, C.M., Nicoll, A., Will, R.G. and Rogers, P. (2004) Variations in neurodegenerative disease across the UK: findings from the national study of Progressive Intellectual and Neurological Deterioration (PIND). Arch. Dis. Child. 89, 8-12
-
(2004)
Arch. Dis. Child.
, vol.89
, pp. 8-12
-
-
Devereux, G.1
Stellitano, L.2
Verity, C.M.3
Nicoll, A.4
Will, R.G.5
Rogers, P.6
-
6
-
-
77953732520
-
The epidemiology of progressive intellectual and neurological deterioration in childhood
-
Verity, C., Winstone, A.M., Stellitano, L., Will, R. and Nicoll, A. (2009) The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch. Dis. Child. 95, 361-364
-
(2009)
Arch. Dis. Child.
, vol.95
, pp. 361-364
-
-
Verity, C.1
Winstone, A.M.2
Stellitano, L.3
Will, R.4
Nicoll, A.5
-
7
-
-
0014592170
-
Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic family idiocy?
-
Zeman, W. and Dyken, P. (1969) Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 44, 570-583
-
(1969)
Pediatrics
, vol.44
, pp. 570-583
-
-
Zeman, W.1
Dyken, P.2
-
8
-
-
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. Neurogenetics 6, 107-126
-
(2005)
Neurogenetics
, vol.6
, pp. 107-126
-
-
Mole, S.E.1
Williams, R.E.2
Goebel, H.H.3
-
9
-
-
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
-
10
-
-
79951552729
-
Interactions of the proteins of neuronal ceroid lipofuscinosis: Clues to function
-
doi:10.1007/s00018-010-0468-6
-
Getty, A.L. and Pearce, D.A. (2010) Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell. Mol. Life Sci., doi:10.1007/s00018-010-0468-6
-
(2010)
Cell. Mol. Life Sci.
-
-
Getty, A.L.1
Pearce, D.A.2
-
11
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
Siintola, E., Partanen, S., Strömme, P., Haapanen, A., Haltia, M., Maehlen, J., Lehesjoki, A.E. and Tyynelä, J. (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129, 1438-1445
-
(2006)
Brain
, vol.129
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Strömme, P.3
Haapanen, A.4
Haltia, M.5
Maehlen, J.6
Lehesjoki, A.E.7
Tyynelä, J.8
-
12
-
-
33750985356
-
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins
-
Kyttälä, A., Lahtinen, U., Braulke, T. and Hofmann, S.L. (2006) Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim. Biophys. Acta 1762, 920-933
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 920-933
-
-
Kyttälä, A.1
Lahtinen, U.2
Braulke, T.3
Hofmann, S.L.4
-
13
-
-
0037399422
-
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis
-
Cooper, J.D. (2003) Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. Curr. Opin. Neurol. 16, 121-128
-
(2003)
Curr. Opin. Neurol.
, vol.16
, pp. 121-128
-
-
Cooper, J.D.1
-
14
-
-
0037226939
-
The neuronal ceroid-lipofuscinoses
-
Haltia, M. (2003) The neuronal ceroid-lipofuscinoses. J. Neuropathol. Exp. Neurol. 62, 1-13
-
(2003)
J. Neuropathol. Exp. Neurol.
, vol.62
, pp. 1-13
-
-
Haltia, M.1
-
15
-
-
8744251345
-
Specific patterns of storage deposition, neurodegeneration, and glial activation in the hippocampus of patients with neuronal ceroid-lipofuscinoses
-
Tyynelä, J., Cooper, J.D., Khan, M.N., Shemilt, S.J.A. and Haltia, M. (2004) Specific patterns of storage deposition, neurodegeneration, and glial activation in the hippocampus of patients with neuronal ceroid-lipofuscinoses. Brain Pathol. 14, 349-357
-
(2004)
Brain Pathol.
, vol.14
, pp. 349-357
-
-
Tyynelä, J.1
Cooper, J.D.2
Khan, M.N.3
Shemilt, S.J.A.4
Haltia, M.5
-
16
-
-
33646202155
-
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses
-
Hachiya, Y., Hayashi, M., Kumada, S., Uchiyama, A., Tsuchiya, K. and Kurata, K. (2006) Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. Acta Neuropathol. 111, 168-177
-
(2006)
Acta Neuropathol.
, vol.111
, pp. 168-177
-
-
Hachiya, Y.1
Hayashi, M.2
Kumada, S.3
Uchiyama, A.4
Tsuchiya, K.5
Kurata, K.6
-
17
-
-
33750976371
-
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis
-
Cooper, J.D., Russell, C.R. and Mitchison, H.M. (2006) Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1762, 873-889
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 873-889
-
-
Cooper, J.D.1
Russell, C.R.2
Mitchison, H.M.3
-
18
-
-
33750180119
-
A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA
-
Tammen, I., Houweling, P.J., Frugier, T., Mitchell, N.L., Kay, G.W., Cavanagh, J.A., Cook, R.W., Raadsma, H.W. and Palmer, D.N. (2006) A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA. Biochim. Biophys. Acta 1762, 898-905
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 898-905
-
-
Tammen, I.1
Houweling, P.J.2
Frugier, T.3
Mitchell, N.L.4
Kay, G.W.5
Cavanagh, J.A.6
Cook, R.W.7
Raadsma, H.W.8
Palmer, D.N.9
-
19
-
-
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., Liu, X.Q., Wilson, C., Lahtinen, U., Anttonen, A.K. and Lehesjoki, A.E. (2006) The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am. J. Hum. Genet. 81, 136-146
-
(2006)
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
Liu, X.Q.7
Wilson, C.8
Lahtinen, U.9
Anttonen, A.K.10
Lehesjoki, A.E.11
-
20
-
-
0033119124
-
Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: Evidence for partial response to insulin-like growth factor-1 treatment
-
Cooper, J.D., Messer, A., Feng, A.K., Chua-Couzens, J. and Mobley, W.C. (1999) Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J. Neurosci. 19, 2556-2567
-
(1999)
J. Neurosci.
, vol.19
, pp. 2556-2567
-
-
Cooper, J.D.1
Messer, A.2
Feng, A.K.3
Chua-Couzens, J.4
Mobley, W.C.5
-
21
-
-
0032744277
-
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease
-
Mitchison, H.M., Bernard, D.J., Greene, N.D.E., Cooper, J.D., Junaid, M.A., Pullarkat, R.K., 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.E.3
Cooper, J.D.4
Junaid, M.A.5
Pullarkat, R.K.6
Vos, N.7
Breuning, M.H.8
Owens, J.W.9
Mobley, W.C.10
-
22
-
-
71749101489
-
An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease
-
Chattopadhyay, S., Ito, M., Cooper, J.D., Brooks, A.I., Curran, T.M., Powers, J.M. and Pearce, D.A. (2002) An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum. Mol. Genet. 11, 1421-1431
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1421-1431
-
-
Chattopadhyay, S.1
Ito, M.2
Cooper, J.D.3
Brooks, A.I.4
Curran, T.M.5
Powers, J.M.6
Pearce, D.A.7
-
23
-
-
2942597781
-
Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 (PPT1) null mutant mouse model of infantile neuronal ceroid lipofuscinosis
-
Bible, E., Gupta, P., Hofmann, S.L. and Cooper, J.D. (2004) Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 (PPT1) null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 16, 346-359
-
(2004)
Neurobiol. Dis.
, vol.16
, pp. 346-359
-
-
Bible, E.1
Gupta, P.2
Hofmann, S.L.3
Cooper, J.D.4
-
24
-
-
4544285361
-
-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation
-
-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res. 1023, 231-242
-
(2004)
Brain Res.
, vol.1023
, pp. 231-242
-
-
Pontikis, C.C.1
Cella, C.V.2
Parihar, N.3
Lim, M.J.4
Chakrabarti, S.5
Mitchison, H.M.6
Mobley, W.C.7
Rezaie, P.8
Pearce, D.A.9
Cooper, J.D.10
-
26
-
-
33646486569
-
Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons
-
Weimer, J.M., Custer, A.W., Benedict, J.W., Alexander, N.A., Kingsley, E., Federoff, H.J., Cooper, J.D. and Pearce, D.A. (2006) Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol. Dis. 22, 284-293
-
(2006)
Neurobiol. Dis.
, vol.22
, pp. 284-293
-
-
Weimer, J.M.1
Custer, A.W.2
Benedict, J.W.3
Alexander, N.A.4
Kingsley, E.5
Federoff, H.J.6
Cooper, J.D.7
Pearce, D.A.8
-
27
-
-
33751349970
-
Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis
-
Kielar, C., Maddox, L., Bible, E., Pontikis, C.C., Macauley, S.L., Griffey, M.A., Wong, M., Sands, M.S. and Cooper, J.D. (2007) Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 25, 150-162
-
(2007)
Neurobiol. Dis.
, vol.25
, pp. 150-162
-
-
Kielar, C.1
Maddox, L.2
Bible, E.3
Pontikis, C.C.4
Macauley, S.L.5
Griffey, M.A.6
Wong, M.7
Sands, M.S.8
Cooper, J.D.9
-
28
-
-
33846451748
-
IgG entry and deposition are components of the neuroimmune response in Batten disease
-
Lim, M.J., Alexander, N., Benedict, J.W., Chattopadhyay, S., Shemilt, S.J.A., Guérin, C.J., Cooper, J.D. and Pearce, D.A. (2007) IgG entry and deposition are components of the neuroimmune response in Batten disease. Neurobiol. Dis. 25, 239-251
-
(2007)
Neurobiol. Dis.
, vol.25
, pp. 239-251
-
-
Lim, M.J.1
Alexander, N.2
Benedict, J.W.3
Chattopadhyay, S.4
Shemilt, S.J.A.5
Guérin, C.J.6
Cooper, J.D.7
Pearce, D.A.8
-
29
-
-
34447634680
-
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis
-
Weimer, J.M., Elshatory, Y.M., Short, D.W., Ramirez-Montealegre, D., Benedict, J.W., Ryan, D.A., Alexander, N.A., Federoff, H.J., Cooper, J.D. and Pearce, D.A. (2007) Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res. 1162, 98-112
-
(2007)
Brain Res.
, vol.1162
, pp. 98-112
-
-
Weimer, J.M.1
Elshatory, Y.M.2
Short, D.W.3
Ramirez-Montealegre, D.4
Benedict, J.W.5
Ryan, D.A.6
Alexander, N.A.7
Federoff, H.J.8
Cooper, J.D.9
Pearce, D.A.10
-
30
-
-
37549057968
-
Synaptic changes in the thalamocortical system of cathepsin D deficient mice, a model of human congenital neuronal ceroid-lipofuscinosis
-
Partanen, S., Haapanen, A., Kielar, C., Pontikis, C.C, Alexander, N.A., Inkinen, T., Saftig, P., Gillingwater, T.H., Cooper, J.D. and Tyynelä, J. (2008) Synaptic changes in the thalamocortical system of cathepsin D deficient mice, a model of human congenital neuronal ceroid-lipofuscinosis. J. Neuropathol. Exp. Neurol. 67, 16-29
-
(2008)
J. Neuropathol. Exp. Neurol.
, vol.67
, pp. 16-29
-
-
Partanen, S.1
Haapanen, A.2
Kielar, C.3
Pontikis, C.C.4
Alexander, N.A.5
Inkinen, T.6
Saftig, P.7
Gillingwater, T.H.8
Cooper, J.D.9
Tyynelä, J.10
-
31
-
-
64549084081
-
Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse
-
Macauley, S.L., Wozniak, D.F., Kielar, C., Tan, Y., Cooper, J.D. and Sands, M.S. (2009) Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse. Exp. Neurol. 217, 124-135
-
(2009)
Exp. Neurol.
, vol.217
, pp. 124-135
-
-
Macauley, S.L.1
Wozniak, D.F.2
Kielar, C.3
Tan, Y.4
Cooper, J.D.5
Sands, M.S.6
-
32
-
-
63249117336
-
Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
-
Weimer, J.M., Benedict, J.W., Getty, A.L., Pontikis, C.C., Lim, M.J., Cooper, J.D. and Pearce, D.A. (2009) Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res. 1266, 93-107
-
(2009)
Brain Res.
, vol.1266
, pp. 93-107
-
-
Weimer, J.M.1
Benedict, J.W.2
Getty, A.L.3
Pontikis, C.C.4
Lim, M.J.5
Cooper, J.D.6
Pearce, D.A.7
-
33
-
-
64649097377
-
Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL
-
von Schantz, C., Kielar, C., Hansen, S.N., Pontikis, C.C., Alexander, N.A., Kopra, O., Jalanko, A. and Cooper, J.D. (2009) Progressive thalamocortical neuron loss in Cln5 deficient mice: distinct effects in Finnish variant late infantile NCL. Neurobiol. Dis. 34, 308-319
-
(2009)
Neurobiol. Dis.
, vol.34
, pp. 308-319
-
-
Von Schantz, C.1
Kielar, C.2
Hansen, S.N.3
Pontikis, C.C.4
Alexander, N.A.5
Kopra, O.6
Jalanko, A.7
Cooper, J.D.8
-
34
-
-
70349997680
-
Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease
-
Kielar, C., Wishart, T.M., Palmer, A., Dihanich, S., Wong, A.M., Macauley, S.L., Chan, C.H., Sands, M.S., Pearce, D.A., Cooper, J.D. and Gillingwater, T.H. (2009) Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. Hum. Mol. Genet. 18, 4066-4080
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4066-4080
-
-
Kielar, C.1
Wishart, T.M.2
Palmer, A.3
Dihanich, S.4
Wong, A.M.5
Macauley, S.L.6
Chan, C.H.7
Sands, M.S.8
Pearce, D.A.9
Cooper, J.D.10
Gillingwater, T.H.11
-
35
-
-
2942588715
-
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis (INCL)
-
Griffey, M., Bible, E., Vogler, C., Levy, B., Gupta, P., Cooper, J.D. and Sands, M.S. (2004) Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis (INCL). Neurobiol. Dis. 16, 360-369
-
(2004)
Neurobiol. Dis.
, vol.16
, pp. 360-369
-
-
Griffey, M.1
Bible, E.2
Vogler, C.3
Levy, B.4
Gupta, P.5
Cooper, J.D.6
Sands, M.S.7
-
36
-
-
32944454332
-
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
-
Griffey, M.A., Wozniak, D., Wong, M., Bible, E., Johnson, K., Rothman, M.R., Wentz, A.E., Cooper, J.D. and Sands, M.S. (2006) CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol. Ther. 15, 538-547
-
(2006)
Mol. Ther.
, vol.15
, pp. 538-547
-
-
Griffey, M.A.1
Wozniak, D.2
Wong, M.3
Bible, E.4
Johnson, K.5
Rothman, M.R.6
Wentz, A.E.7
Cooper, J.D.8
Sands, M.S.9
-
37
-
-
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., Lobel, P. and Davidson, B.L. (2008) Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol. Ther. 16, 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
Lobel, P.7
Davidson, B.L.8
-
38
-
-
69449089145
-
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis
-
Tamaki, S.J., Jacobs, Y., Dohse, M., Capela, A., Cooper, J.D., Reitsma, M., He, D., Tushinski, R., Belichenko, P.V., Salehi, A. et al. (2009) Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. Cell Stem Cell 5, 310-319
-
(2009)
Cell Stem Cell
, vol.5
, pp. 310-319
-
-
Tamaki, S.J.1
Jacobs, Y.2
Dohse, M.3
Capela, A.4
Cooper, J.D.5
Reitsma, M.6
He, D.7
Tushinski, R.8
Belichenko, P.V.9
Salehi, A.10
-
39
-
-
24044496235
-
Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
-
Oswald, M.J., Palmer, D.N., Kay, G.W., Shemilt, S.J.A., Rezaie, P. and Cooper, J.D. (2005) Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6). Neurobiol. Dis. 20, 49-63
-
(2005)
Neurobiol. Dis.
, vol.20
, pp. 49-63
-
-
Oswald, M.J.1
Palmer, D.N.2
Kay, G.W.3
Shemilt, S.J.A.4
Rezaie, P.5
Cooper, J.D.6
-
40
-
-
51549114197
-
Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis
-
Oswald, M.J., Palmer, D.N., Kay, G.W., Barwell, K.J. and Cooper, J.D. (2008) Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis. Neurobiol. Dis. 32, 50-65
-
(2008)
Neurobiol. Dis.
, vol.32
, pp. 50-65
-
-
Oswald, M.J.1
Palmer, D.N.2
Kay, G.W.3
Barwell, K.J.4
Cooper, J.D.5
-
41
-
-
0021675999
-
Inhibitors of lysosomal enzymes: Accumulation of lipofuscin-like dense bodies in the brain
-
Ivy, G.O., Schottler, F., Wenzel, J., Baudry, M. and Lynch, G. (1984) Inhibitors of lysosomal enzymes: accumulation of lipofuscin-like dense bodies in the brain. Science 226, 985-987
-
(1984)
Science
, vol.226
, pp. 985-987
-
-
Ivy, G.O.1
Schottler, F.2
Wenzel, J.3
Baudry, M.4
Lynch, G.5
-
42
-
-
51349089035
-
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice
-
Kim, S.J., Zhang, Z., Sarkar, C., Tsai, P.C., Lee, Y.C., Dye, L. and Mukherjee, A.B. (2008) Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. J. Clin. Invest. 118, 3075-3086
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 3075-3086
-
-
Kim, S.J.1
Zhang, Z.2
Sarkar, C.3
Tsai, P.C.4
Lee, Y.C.5
Dye, L.6
Mukherjee, A.B.7
-
43
-
-
33745018230
-
Prenatal activation of non-neuronal cells within the developing CNS of sheep with neuronal ceroid lipofuscinosis (CLN6)
-
Kay, G.W., Palmer, D.N., Rezaie, P. and Cooper, J.D. (2006) Prenatal activation of non-neuronal cells within the developing CNS of sheep with neuronal ceroid lipofuscinosis (CLN6). Brain Pathol. 16, 110-116
-
(2006)
Brain Pathol.
, vol.16
, pp. 110-116
-
-
Kay, G.W.1
Palmer, D.N.2
Rezaie, P.3
Cooper, J.D.4
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