-
1
-
-
33745219173
-
Protracted juvenile neuronal ceroid lipofuscinosis-an autopsy report and immunohistochemical analysis
-
Anzai, Y., Hayashi, M., Fueki, N., Kurata, K. and Ohya, T. 2006. Protracted juvenile neuronal ceroid lipofuscinosis-an autopsy report and immunohistochemical analysis. Brain Development. 28: 462-465.
-
(2006)
Brain Development
, vol.28
, pp. 462-465
-
-
Anzai, Y.1
Hayashi, M.2
Fueki, N.3
Kurata, K.4
Ohya, T.5
-
2
-
-
21644483621
-
Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells
-
Balsinde, J. and Balboa, M.A. 2005. Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells. Cell. Signaling 17: 1052-1062.
-
(2005)
Cell. Signaling
, vol.17
, pp. 1052-1062
-
-
Balsinde, J.1
Balboa, M.A.2
-
3
-
-
34247128649
-
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroax-onal dystrophy (INAD) due to PLA2G6 mutation
-
Biancheri, R., Rossi, A., Alpigiani, G., Filocamo, M., Gan-dolfo, C., Lorini, R. and Minetti, C. 2007. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroax-onal dystrophy (INAD) due to PLA2G6 mutation. Eur. J. Pae-diatr. Neurol. 11: 175-177.
-
(2007)
Eur. J. Pae-diatr. Neurol
, vol.11
, pp. 175-177
-
-
Biancheri, R.1
Rossi, A.2
Alpigiani, G.3
Filocamo, M.4
Gan-Dolfo, C.5
Lorini, R.6
Minetti, C.7
-
5
-
-
0025140121
-
Abiotrophy in domestic animals: Review
-
deLahunta, A. 1990. Abiotrophy in domestic animals: review. Can. J. Vet. Res. 54: 65-76.
-
(1990)
Can. J. Vet. Res
, vol.54
, pp. 65-76
-
-
Delahunta, A.1
-
6
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Dueñas, A.M., Goold, R. and Giunti, P. 2006. Molecular pathogenesis of spinocerebellar ataxias. Brain 129: 1357-1370.
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Dueñas, A.M.1
Goold, R.2
Giunti, P.3
-
8
-
-
34547515634
-
Cere-bellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs
-
Flegel, T., Matiasek, K., Henke, D. and Grevel, V. 2007. Cere-bellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs. J. Small Anim. Pract. 48: 462-465.
-
(2007)
J. Small Anim. Pract
, vol.48
, pp. 462-465
-
-
Flegel, T.1
Matiasek, K.2
Henke, D.3
Grevel, V.4
-
10
-
-
0033191173
-
Computed tomographic findings of ceroid lipofuscinosis in a dog
-
Franks, J.N., Dewey, C.W., Walker, M.A. and Storts, R.W. 1999. Computed tomographic findings of ceroid lipofuscinosis in a dog. J. Am. Vet. Med. Assoc. 35: 430-435.
-
(1999)
J. Am. Vet. Med. Assoc
, vol.35
, pp. 430-435
-
-
Franks, J.N.1
Dewey, C.W.2
Walker, M.A.3
Storts, R.W.4
-
11
-
-
0037000025
-
Pantothenate kinase-associated neurodegen-eration (Hallervorden-Spatz syndrome)
-
Gordon, N. 2002. Pantothenate kinase-associated neurodegen-eration (Hallervorden-Spatz syndrome). Eur. J. Paediatr. Neu-rol. 6: 243-247.
-
(2002)
Eur. J. Paediatr. Neu-rol
, vol.6
, pp. 243-247
-
-
Gordon, N.1
-
12
-
-
33646202155
-
Mechanisms of neurodegen-eration in neuronal ceroid-lipofuscinoses
-
Hachiya, Y., Hayashi, M., Kumada, S., Uchiyama, A., Tsuchiya, K. and Kurata, K. 2006. Mechanisms of neurodegen-eration 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
-
13
-
-
12244309505
-
Pantothenate kinase-associated neurode-generation (formerly Hallervorden-Spatz syndrome)
-
Hayflick, S.J. 2003. Pantothenate kinase-associated neurode-generation (formerly Hallervorden-Spatz syndrome). J. Neu-rol. Sci. 207: 106-107.
-
(2003)
J. Neu-rol. Sci
, vol.207
, pp. 106-107
-
-
Hayflick, S.J.1
-
14
-
-
0031263554
-
Lysosomal storage diseases of animals: An essay in comparative pathology
-
Jolly, R.D. and Walkley, S.U. 1997. Lysosomal storage diseases of animals: an essay in comparative pathology. Vet. Pathol. 34: 527-548.
-
(1997)
Vet. Pathol
, vol.34
, pp. 527-548
-
-
Jolly, R.D.1
Walkley, S.U.2
-
15
-
-
11144341883
-
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
-
541-517
-
Katz, M.L., Khan, S., Awano, T., Shahid, S.A., Siakotos, A.N. and Johnson, G.S. 2005. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Bio-chem. Biophys. Res. Commun. 327: 541-517.
-
(2005)
Bio-chem. Biophys. Res. Commun
, vol.327
-
-
Katz, M.L.1
Khan, S.2
Awano, T.3
Shahid, S.A.4
Siakotos, A.N.5
Johnson, G.S.6
-
16
-
-
33751110649
-
PLA2G6 mutation underlies infantile neuroaxonal dystrophy
-
Khateeb, S., Flusser, H., Ofir, R., Shelef, I., Narkis, G., Vardi, G., Shorer, Z., Levy, R., Galil, A., Elbedour, K. and Birk, O.S. 2006. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am. J. Hum. Genet. 79: 942-948.
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 942-948
-
-
Khateeb, S.1
Flusser, H.2
Ofir, R.3
Shelef, I.4
Narkis, G.5
Vardi, G.6
Shorer, Z.7
Levy, R.8
Galil, A.9
Elbedour, K.10
Birk, O.S.11
-
17
-
-
12344334370
-
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
-
Kuo, Y.M., Duncan, J.L., Westaway, S.K., Yang, H., Nune, G., Xu, E.Y., Hayflick, S.J. and Gitschier, J. 2005. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum. Mol. Genet. 14: 49-57.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 49-57
-
-
Kuo, Y.M.1
Duncan, J.L.2
Westaway, S.K.3
Yang, H.4
Nune, G.5
Xu, E.Y.6
Hayflick, S.J.7
Gitschier, J.8
-
18
-
-
0030038060
-
Apoptosis as the mechanism of neurodegener-ation in Batten's disease
-
Lane, S.C., Jolly, R.D., Schmechel, D.E., Alroy, J. and Boust-any, R.M. 1996. Apoptosis as the mechanism of neurodegener-ation in Batten's disease. J. Neurochem. 67: 677-683.
-
(1996)
J. Neurochem
, vol.67
, pp. 677-683
-
-
Lane, S.C.1
Jolly, R.D.2
Schmechel, D.E.3
Alroy, J.4
Boust-Any, R.M.5
-
19
-
-
34548665512
-
Localization and regulation of mouse pantoth-enate kinase 2
-
Leonardi, R., Zhang, Y.M., Lykidis, A., Rock, C.O. and Jack-owski, S. 2007. Localization and regulation of mouse pantoth-enate kinase 2. FEBS Letters. 581: 4639-4644.
-
(2007)
FEBS Letters
, vol.581
, pp. 4639-4644
-
-
Leonardi, R.1
Zhang, Y.M.2
Lykidis, A.3
Rock, C.O.4
Jack-Owski, S.5
-
20
-
-
39549085125
-
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neu-roaxonal dystrophy caused by PLA2G6 mutations
-
Malik, I., Turk, J., Mancuso, D.J., Montier, L., Wohltmann, M., Wozniak, D.F., Schmidt, R.E., Gross, R.W. and Kotzbauer, P.T. 2008. Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neu-roaxonal dystrophy caused by PLA2G6 mutations. Am. J. Pathol. 172: 406-416.
-
(2008)
Am. J. Pathol
, vol.172
, pp. 406-416
-
-
Malik, I.1
Turk, J.2
Mancuso, D.J.3
Montier, L.4
Wohltmann, M.5
Wozniak, D.F.6
Schmidt, R.E.7
Gross, R.W.8
Kotzbauer, P.T.9
-
21
-
-
23244466313
-
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs
-
Melville, S.A., Wilson, C.L., Chiang, C.S., Studdert, V.P., Lin-gaas, F. and Wilton, A.N. 2005. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86: 287-294.
-
(2005)
Genomics
, vol.86
, pp. 287-294
-
-
Melville, S.A.1
Wilson, C.L.2
Chiang, C.S.3
Studdert, V.P.4
Lin-Gaas, F.5
Wilton, A.N.6
-
22
-
-
78649778510
-
Neuronal ceroid-lipofuscinosis in long haired Chihuahas: Clinical, Pathological and Magnetic resonance imaging findings
-
In press
-
Nakamoto, Y., Yamato, O., Uchida, K., Nibe, K., Tamura, S., Ozawa, T., Veoka, S., Nakaya, A., Yabuki, A. and Nakaichi, M. Neuronal ceroid-lipofuscinosis in long haired Chihuahas: Clinical, Pathological and Magnetic resonance imaging findings. J. Am. Anim. Hosp. Assoc. (In press).
-
J. Am. Anim. Hosp. Assoc
-
-
Nakamoto, Y.1
Yamato, O.2
Uchida, K.3
Nibe, K.4
Tamura, S.5
Ozawa, T.6
Veoka, S.7
Nakaya, A.8
Yabuki, A.9
Nakaichi, M.10
-
23
-
-
36248996532
-
Clinicopatho-logical features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs
-
Nibe, K., Kita, C., Morozumi, M., Awamura, Y., Tamura, S., Okuno, S., Kobayashi, T. and Uchida, K. 2007. Clinicopatho-logical features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J. Vet. Med. Sci. 69: 1047-1052.
-
(2007)
J. Vet. Med. Sci
, vol.69
, pp. 1047-1052
-
-
Nibe, K.1
Kita, C.2
Morozumi, M.3
Awamura, Y.4
Tamura, S.5
Okuno, S.6
Kobayashi, T.7
Uchida, K.8
-
24
-
-
67649933447
-
Immunohis-tochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy
-
Nibe, K., Nakayama, H. and Uchida, K. 2009. Immunohis-tochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet. Pathol. 46: 474-483.
-
(2009)
Vet. Pathol
, vol.46
, pp. 474-483
-
-
Nibe, K.1
Nakayama, H.2
Uchida, K.3
-
25
-
-
24644471460
-
Cell death pathways in juvenile Batten disease
-
Persaud-Sawin, D.A. and Boustany, R.M. 2005. Cell death pathways in juvenile Batten disease. Apoptosis 10: 973-985.
-
(2005)
Apoptosis
, vol.10
, pp. 973-985
-
-
Persaud-Sawin, D.A.1
Boustany, R.M.2
-
26
-
-
0027586162
-
Neuroax-onal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy
-
Sacre, B.J., Cummings, J.F. and deLahunta, A. 1993. Neuroax-onal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy. Cornell Vet. 83: 133-142.
-
(1993)
Cornell Vet
, vol.83
, pp. 133-142
-
-
Sacre, B.J.1
Cummings, J.F.2
Delahunta, A.3
-
27
-
-
0036833596
-
Cerebellar abiotrophy in a family of Border Collie dogs
-
Sandy, J.R., Slocombe, R.E., Mitten, R.W. and Jedwab, D. 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet. Pathol. 39: 736-738.
-
(2002)
Vet. Pathol
, vol.39
, pp. 736-738
-
-
Sandy, J.R.1
Slocombe, R.E.2
Mitten, R.W.3
Jedwab, D.4
-
28
-
-
38049025671
-
Lysosomal storage diseases as disorders of autophagy
-
Settembre, C., Fraldi, A., Rubinsztein, D.C. and Ballabio, A. 2008. Lysosomal storage diseases as disorders of autophagy. Autophagy 4: 113-114.
-
(2008)
Autophagy
, vol.4
, pp. 113-114
-
-
Settembre, C.1
Fraldi, A.2
Rubinsztein, D.C.3
Ballabio, A.4
-
29
-
-
39849101072
-
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: A model of human neurodegenerative disease
-
Shinzawa, K., Sumi, H., Ikawa, M., Matsuoka, Y., Okabe, M., Sakoda, S. and Tsujimoto, Y. 2008. Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. J. Neurosci. 28: 2212-2220.
-
(2008)
J. Neurosci
, vol.28
, pp. 2212-2220
-
-
Shinzawa, K.1
Sumi, H.2
Ikawa, M.3
Matsuoka, Y.4
Okabe, M.5
Sakoda, S.6
Tsujimoto, Y.7
-
30
-
-
0034739463
-
The expanding superfamily of phospholipase A(2) enzymes: Classification and characterization
-
Six, D.A. and Dennis, E.A. 2000. The expanding superfamily of phospholipase A(2) enzymes: classification and characterization. Biochim. Biophys. Acta 1488: 1-19.
-
(2000)
Biochim. Biophys. Acta
, vol.1488
, pp. 1-19
-
-
Six, D.A.1
Dennis, E.A.2
-
31
-
-
0000541257
-
Degenerative disease of the central nervous system
-
(Summers, B.A., Cum-mings, J.F. and de Lahunta, A. eds.), Mosby-Year Book, St. Louis
-
Summers, B.A., Cummings, J.F. and de Lahunta, A. 1995. Degenerative disease of the central nervous system. pp. 208-350. In: Veterinary Neuropathology (Summers, B.A., Cum-mings, J.F. and de Lahunta, A. eds.), Mosby-Year Book, St. Louis.
-
(1995)
Veterinary Neuropathology
, pp. 208-350
-
-
Summers, B.A.1
Cummings, J.F.2
de Lahunta, A.3
-
32
-
-
34547550491
-
Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy
-
Tamura, S., Tamura, Y. and Uchida, K. 2007. Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J. Small Anim. Pract. 48: 458-461.
-
(2007)
J. Small Anim. Pract
, vol.48
, pp. 458-461
-
-
Tamura, S.1
Tamura, Y.2
Uchida, K.3
-
33
-
-
0033808715
-
Neuronal ceroid lipofuscinoses and possible pathogenic mechanism
-
Zhong, N. 2000. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. Mol. Genet. Metab. 71: 195-206.
-
(2000)
Mol. Genet. Metab
, vol.71
, pp. 195-206
-
-
Zhong, N.1
-
34
-
-
0037194897
-
Polyglutamine pathogenesis: Emergence of unifying mechanisms for Huntington's disease and related disorders
-
Ross, C.A. 2002. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 35: 819-822.
-
(2002)
Neuron
, vol.35
, pp. 819-822
-
-
Ross, C.A.1
-
35
-
-
34248578374
-
Autophagy, mitochondria and cell death in lysosomal storage diseases
-
Kiselyov, K., Jennigs, J.J. Jr., Rbaibi, Y. and Chu, C.T. 2007. Autophagy, mitochondria and cell death in lysosomal storage diseases. Autophagy 3: 259-262.
-
(2007)
Autophagy
, vol.3
, pp. 259-262
-
-
Kiselyov, K.1
Jennigs Jr., J.J.2
Rbaibi, Y.3
Chu, C.T.4
-
36
-
-
38049025671
-
Lysosomal storage diseases as disorders of autophagy
-
Settembre, C., Fraldi, A., Rubinsztein, D.C. and Ballabio, A. 2008. Lysosomal storage diseases as disorders of autophagy. Autophagy 4: 113-114.
-
(2008)
Autophagy
, vol.4
, pp. 113-114
-
-
Settembre, C.1
Fraldi, A.2
Rubinsztein, D.C.3
Ballabio, A.4
|