-
1
-
-
0036836191
-
Neonatal cerebellar ataxia in Coton de Tulear dogs
-
Coates JR, O'Brien DP, Kline KL, et al. Neonatal cerebellar ataxia in Coton de Tulear dogs. J Vet Intern Med 2002;16:680-689.
-
(2002)
J Vet Intern Med
, vol.16
, pp. 680-689
-
-
Coates, J.1
O'Brien, D.2
Kline, K.3
-
2
-
-
0034597042
-
Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed
-
Tipold A, Fatzer R, Jaggy A, et al. Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed. J Neuroimmunol 2000;110:130-133.
-
(2000)
J Neuroimmunol
, vol.110
, pp. 130-133
-
-
Tipold, A.1
Fatzer, R.2
Jaggy, A.3
-
3
-
-
11144341883
-
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
-
Katz ML, Khan S, Awano T, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 2005;327:541-547.
-
(2005)
Biochem Biophys Res Commun
, vol.327
, pp. 541-547
-
-
Katz, M.1
Khan, S.2
Awano, T.3
-
4
-
-
77957347839
-
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation
-
Farias FH, Johnson GS, Taylor JF, et al. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci 2010;51:4716-4721.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 4716-4721
-
-
Farias, F.1
Johnson, G.2
Taylor, J.3
-
5
-
-
0031055331
-
Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons
-
Jurka J. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci USA 1997;94:1872-1877.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 1872-1877
-
-
Jurka, J.1
-
6
-
-
0028149789
-
Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice
-
Aiba A, Kano M, Chen C, et al. Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell 1994;79:377-388.
-
(1994)
Cell
, vol.79
, pp. 377-388
-
-
Aiba, A.1
Kano, M.2
Chen, C.3
-
7
-
-
0027997686
-
Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1
-
Conquet F, Bashir ZI, Davies CH, et al. Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. Nature 1994;372:237-243.
-
(1994)
Nature
, vol.372
, pp. 237-243
-
-
Conquet, F.1
Bashir, Z.2
Davies, C.3
-
8
-
-
36248934609
-
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1)
-
Conti V, Aghaie A, Cilli M, et al. crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1). Int J Mol Med 2006;18:593-600.
-
(2006)
Int J Mol Med
, vol.18
, pp. 593-600
-
-
Conti, V.1
Aghaie, A.2
Cilli, M.3
-
9
-
-
36349005817
-
The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations
-
Sachs AJ, Schwendinger JK, Yang AW, et al. The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. Mamm Genome 2007;18:749-756.
-
(2007)
Mamm Genome
, vol.18
, pp. 749-756
-
-
Sachs, A.1
Schwendinger, J.2
Yang, A.3
-
10
-
-
0030606320
-
High frequency retrotransposition in cultured mammalian cells
-
Moran JV, Holmes SE, Naas TP, et al. High frequency retrotransposition in cultured mammalian cells. Cell 1996;87:917-927.
-
(1996)
Cell
, vol.87
, pp. 917-927
-
-
Moran, J.1
Holmes, S.2
Naas, T.3
-
11
-
-
0034079713
-
Human LINE retrotransposons generate processed pseudogenes
-
Esnault C, Maestre J, Heidmann T. Human LINE retrotransposons generate processed pseudogenes. Nat Genet 2000;24:363-367.
-
(2000)
Nat Genet
, vol.24
, pp. 363-367
-
-
Esnault, C.1
Maestre, J.2
Heidmann, T.3
-
12
-
-
0033529520
-
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (Orexin) receptor 2 gene
-
Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (Orexin) receptor 2 gene. Cell 1999;98:365-376.
-
(1999)
Cell
, vol.98
, pp. 365-376
-
-
Lin, L.1
Faraco, J.2
Li, R.3
-
13
-
-
0242266080
-
A Line 1 insertion in the factor IX gene segregates with mild hemophilia B in dogs
-
Brooks MB, Gu W, Barnas JL, et al. A Line 1 insertion in the factor IX gene segregates with mild hemophilia B in dogs. Mamm Genome 2003;14:788-795.
-
(2003)
Mamm Genome
, vol.14
, pp. 788-795
-
-
Brooks, M.1
Gu, W.2
Barnas, J.3
-
14
-
-
20444433182
-
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
-
Pelé M, Tiret L, Kessler JL, et al. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 2005;14:1417-1427.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1417-1427
-
-
Pelé, M.1
Tiret, L.2
Kessler, J.3
-
15
-
-
31944436548
-
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog
-
Clark LA, Wahl JM, Rees CA, Murphy KE. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci USA 2006;103:1376-1381.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 1376-1381
-
-
Clark, L.1
Wahl, J.2
Rees, C.3
Murphy, K.4
-
16
-
-
33748204582
-
Canine RPGRIP1 mutation establishes cone-rod dystrophy in Miniature Longhaired Dachshunds as a homologue of human Leber congenital amaurosis
-
Mellersh CS, Boursnell ME, Pettitt L, et al. Canine RPGRIP1 mutation establishes cone-rod dystrophy in Miniature Longhaired Dachshunds as a homologue of human Leber congenital amaurosis. Genomics 2006;88:293-301.
-
(2006)
Genomics
, vol.88
, pp. 293-301
-
-
Mellersh, C.1
Boursnell, M.2
Pettitt, L.3
-
17
-
-
73349101053
-
Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell Terrier dogs
-
Credille KM, Minor JS, Barnhart KF, et al. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell Terrier dogs. Br J Dermatol 2009;161:265-272.
-
(2009)
Br J Dermatol
, vol.161
, pp. 265-272
-
-
Credille, K.1
Minor, J.2
Barnhart, K.3
-
18
-
-
0030784958
-
Mechanism and regulation of mRNA polyadenylation
-
Colgan DF, Manley JL. Mechanism and regulation of mRNA polyadenylation. Genes Dev 1997;11:2755-2766.
-
(1997)
Genes Dev
, vol.11
, pp. 2755-2766
-
-
Colgan, D.1
Manley, J.2
-
19
-
-
73449118966
-
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
-
Miyadera K, Kato K, Aguirre-Hernández J, et al. Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis 2009;15:2287-2305.
-
(2009)
Mol Vis
, vol.15
, pp. 2287-2305
-
-
Miyadera, K.1
Kato, K.2
Aguirre-Hernández, J.3
-
20
-
-
77953067805
-
Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers
-
Bishop MA, Xenoulis PG, Levinski MD, et al. Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers. Am J Vet Res 2010;71:527-533.
-
(2010)
Am J Vet Res
, vol.71
, pp. 527-533
-
-
Bishop, M.1
Xenoulis, P.2
Levinski, M.3
-
21
-
-
0031035031
-
Persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking mGluR1
-
Kano M, Hashimoto K, Kurihara H, et al. Persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking mGluR1. Neuron 1997;18:71-79.
-
(1997)
Neuron
, vol.18
, pp. 71-79
-
-
Kano, M.1
Hashimoto, K.2
Kurihara, H.3
-
22
-
-
67650713830
-
Synapse elimination in the central nervous system
-
Kano M, Hashimoto K. Synapse elimination in the central nervous system. Curr Opin Neurobiol 2009;19:154-161.
-
(2009)
Curr Opin Neurobiol
, vol.19
, pp. 154-161
-
-
Kano, M.1
Hashimoto, K.2
-
23
-
-
0028139045
-
Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice
-
Aiba A, Chen C, Herrup K, et al. Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice. Cell 1994;79:365-375.
-
(1994)
Cell
, vol.79
, pp. 365-375
-
-
Aiba, A.1
Chen, C.2
Herrup, K.3
-
25
-
-
77949798185
-
Modelling the molecular mechanisms of synaptic plasticity using systems biology approaches
-
Kotaleski JH, Blackwell KT. Modelling the molecular mechanisms of synaptic plasticity using systems biology approaches. Nat Rev Neurosci 2010;11:239-251.
-
(2010)
Nat Rev Neurosci
, vol.11
, pp. 239-251
-
-
Kotaleski, J.1
Blackwell, K.2
-
26
-
-
0036930252
-
mGluR1 in cerebellar Purkinje cells is required for normal association of temporally contiguous stimuli in classical conditioning
-
Kishimoto Y, Fujimichi R, Araishi K, et al. mGluR1 in cerebellar Purkinje cells is required for normal association of temporally contiguous stimuli in classical conditioning. Eur J Neurosci 2002;16:2416-2424.
-
(2002)
Eur J Neurosci
, vol.16
, pp. 2416-2424
-
-
Kishimoto, Y.1
Fujimichi, R.2
Araishi, K.3
-
27
-
-
0036174757
-
Loss of adaptability of horizontal optokinetic response eye movements in mGluR1 knockout mice
-
Shutoh F, Katoh A, Kitazawa H, et al. Loss of adaptability of horizontal optokinetic response eye movements in mGluR1 knockout mice. Neurosci Res 2002;42:141-145.
-
(2002)
Neurosci Res
, vol.42
, pp. 141-145
-
-
Shutoh, F.1
Katoh, A.2
Kitazawa, H.3
-
28
-
-
0347419233
-
Disruption of prepulse inhibition in mice lacking mGluR1
-
Brody SA, Conquet F, Geyer MA. Disruption of prepulse inhibition in mice lacking mGluR1. Eur J Neurosci 2003;18:3361-3366.
-
(2003)
Eur J Neurosci
, vol.18
, pp. 3361-3366
-
-
Brody, S.1
Conquet, F.2
Geyer, M.3
-
29
-
-
0031888178
-
Non-progressive congenital ataxia with or without cerebellar hypoplasia
-
Dev Med Child Neurol.
-
Steinlin M, Zangger B, Boltshauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia: A review of 34 subjects. Dev Med Child Neurol 1998;40:148-154.
-
(1998)
A review of 34 subjects
, vol.40
, pp. 148-154
-
-
Steinlin, M.1
Zangger, B.2
Boltshauser, E.3
-
30
-
-
77951254605
-
The metabotropic glutamate receptor 1, GRM1
-
J Neurol.
-
Rossi PIA, Vaccari CM, Terracciano A, et al. The metabotropic glutamate receptor 1, GRM1: Evaluation as a candidate gene for inherited forms of cerebellar ataxia. J Neurol 2010;257:598-602.
-
(2010)
Evaluation as a candidate gene for inherited forms of cerebellar ataxia
, vol.257
, pp. 598-602
-
-
Rossi, P.1
Vaccari, C.2
Terracciano, A.3
-
31
-
-
0002461547
-
Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor
-
Sillevis Smitt P, Kinoshita A, De Leeuw B, et al. Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N Engl J Med 2000;342:21-27.
-
(2000)
N Engl J Med
, vol.342
, pp. 21-27
-
-
Sillevis Smitt, P.1
Kinoshita, A.2
De Leeuw, B.3
-
32
-
-
77952122495
-
Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis
-
Arch Neurol.
-
Marignier R, Chenevier F, Rogemond V, et al. Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis: A primary autoimmune disease? Arch Neurol 2010;67:627-630.
-
(2010)
A primary autoimmune disease?
, vol.67
, pp. 627-630
-
-
Marignier, R.1
Chenevier, F.2
Rogemond, V.3
|