-
1
-
-
0029014350
-
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)
-
Otterbach, B. & Stoffel, W. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell 81, 1053-1061(1995).
-
(1995)
Cell
, vol.81
, pp. 1053-1061
-
-
Otterbach, B.1
Stoffel, W.2
-
2
-
-
0029012443
-
Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease
-
Horinouchi, K. et al. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease Nature Genet. 10, 288-293 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 288-293
-
-
Horinouchi, K.1
-
3
-
-
0031764610
-
Progressive ataxia, myoclonic epilepsy, and cerebellar apoptosis in cystatin B-deficient mice
-
Pennachio, L. A et al. Progressive ataxia, myoclonic epilepsy, and cerebellar apoptosis in cystatin B-deficient mice. Nature Genet. 20, 251-258 (1998).
-
(1998)
Nature Genet.
, vol.20
, pp. 251-258
-
-
Pennachio, L.A.1
-
4
-
-
0032491408
-
Genetic classification of primary neurodegenerative disease
-
Hardy, J. & Gwinn-Hardy, K. Genetic classification of primary neurodegenerative disease. Science 282, 1075-1079 (1998).
-
(1998)
Science
, vol.282
, pp. 1075-1079
-
-
Hardy, J.1
Gwinn-Hardy, K.2
-
5
-
-
0037077040
-
Toxic proteins in neurodegenerative disease
-
Taylor, J. P., Hardy, J. & Fischbeck, K. H. Toxic proteins in neurodegenerative disease. Science 296, 1991-1995 (2002).
-
(2002)
Science
, vol.296
, pp. 1991-1995
-
-
Taylor, J.P.1
Hardy, J.2
Fischbeck, K.H.3
-
6
-
-
0034329159
-
Molecular genetics: Unmasking polyglutamine triggers in neurodegnerative disease
-
Gusella, J. F. & MacDonald, M. E. Molecular genetics: unmasking polyglutamine triggers in neurodegnerative disease. Nature Rev. Neurosci 1, 109-115 (2000).
-
(2000)
Nature Rev. Neurosci.
, vol.1
, pp. 109-115
-
-
Gusella, J.F.1
MacDonald, M.E.2
-
7
-
-
0035475788
-
Y SCA1 molecular genetics: A history of a 13 year collaboration against glutamines
-
Orr, H. T. & Zoghbi, H. Y SCA1 molecular genetics: a history of a 13 year collaboration against glutamines, Hum. Mol. Genet. 10, 2307-2311 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2307-2311
-
-
Orr, H.T.1
Zoghbi, H.2
-
8
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E. et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948 (1995).
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.1
-
9
-
-
0032528167
-
Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation
-
Matilla, A. et al. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J. Neurosci. 18, 5508-5516 (1998).
-
(1998)
J. Neurosci.
, vol.18
, pp. 5508-5516
-
-
Matilla, A.1
-
10
-
-
0034597833
-
Identification of genes that modify ataxin-1-induced neurodegeneration
-
Fernandez-Funez, P. et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408, 101-106 (2000).
-
(2000)
Nature
, vol.408
, pp. 101-106
-
-
Fernandez-Funez, P.1
-
11
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement, I, A. et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice Cell 95, 41-53 (1998).
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
-
12
-
-
0034701278
-
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
-
Lorenzetti, D. et al. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus, Hum. Mol. Genet. 9, 779-785 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 779-785
-
-
Lorenzetti, D.1
-
13
-
-
18444386197
-
A long CAG repeat in the mouse Scal locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration
-
Watase, K. et al. A long CAG repeat in the mouse Scal locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration Neuron 34, 905-919 (2002) This paper reports on mice that express the mutant protein with endogenous patterns and replicate the selective neuronal vulnerability that is found in polyglutamine disorders.
-
(2002)
Neuron
, vol.34
, pp. 905-919
-
-
Watase, K.1
-
14
-
-
0027291710
-
Subclinical phenotypic expressionsin heterozygous females of X-linked recessive bulbospinal neuronopathy
-
Sobue, G. et al. Subclinical phenotypic expressionsin heterozygous females of X-linked recessive bulbospinal neuronopathy J. Neurol. Sci. 117, 74-78 (1993).
-
(1993)
J. Neurol. Sci.
, vol.117
, pp. 74-78
-
-
Sobue, G.1
-
15
-
-
0034793311
-
Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy
-
Ishihara, H. et al. Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy. J. Neurol 248. 856-860 (2001).
-
(2001)
J. Neurol.
, vol.248
, pp. 856-860
-
-
Ishihara, H.1
-
16
-
-
0028952350
-
Androgen receptor (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders
-
Ferlini, A. et al. Androgen receptor (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders Am. J. Med. Genet. 55, 105-111(1995).
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 105-111
-
-
Ferlini, A.1
-
17
-
-
0027931346
-
The androgen receptor: An overview
-
Zhou, Z. X. Wong, C. I., Sar, M. & Wilson, E. M. The androgen receptor: an overview. Recent Prog. Horm. Res. 49, 249-274 (1994).
-
(1994)
Recent Prog. Horm. Res.
, vol.49
, pp. 249-274
-
-
Zhou, Z.X.1
Wong, C.I.2
Sar, M.3
Wilson, E.M.4
-
18
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham, P. M. et al. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9, 191-196 (1995).
-
(1995)
Nature Genet.
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
-
19
-
-
7144256250
-
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinuclectide repeat instability
-
La Spada, A. R. et al. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinuclectide repeat instability. Hum Mol Genet. 7, 959-967 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 959-967
-
-
La Spada, A.R.1
-
20
-
-
0035862754
-
Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice
-
Abel, A. et al. Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum. Mol. Genet, 10, 107-116 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 107-116
-
-
Abel, A.1
-
21
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
-
22
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini, L. et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506 (1996).
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
-
23
-
-
0036713608
-
A mouse model of spinal and bulbar muscular atrophy
-
McManamny, P. et al. A mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 18, 2103-2111 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.18
, pp. 2103-2111
-
-
McManamny, P.1
-
24
-
-
18644379256
-
Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
-
Katsuno, M. et al. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35, 843-854 (2002) Through the creation of a transgenic animal model expressing full-length mutant AR cDNA, this study indicated that nuclear translocation of the mutant AR by testosterone might contribute to the profound gender differences of phenotypes in SBMA and showed the therapeutic potential of hormonal intervention.
-
(2002)
Neuron
, vol.35
, pp. 843-854
-
-
Katsuno, M.1
-
25
-
-
0037421691
-
SCA7 knock-in mice reproduce features of human SCA7 and reveal that mutant ataxin-7 gradually accumulates in neurons and interferes with short-term synaptic plasticity
-
Yoo, S. Y. et al. SCA7 knock-in mice reproduce features of human SCA7 and reveal that mutant ataxin-7 gradually accumulates in neurons and interferes with short-term synaptic plasticity. Neuron 37, 383401 (2003). By inserting highly expanded CAG repeat seen in juvenile cases of SCA7 into the corresponding mouse locus, the authors succeeded in generating an accurate model for this polyglutamine disease.
-
(2003)
Neuron
, vol.37
, pp. 383-401
-
-
Yoo, S.Y.1
-
26
-
-
0037154184
-
Recent advances in the genetics and pathogenesis of Parkinson disease
-
Mouradian, M. M. Recent advances in the genetics and pathogenesis of Parkinson disease. Neurology 58, 179-185 (2002).
-
(2002)
Neurology
, vol.58
, pp. 179-185
-
-
Mouradian, M.M.1
-
27
-
-
0032543684
-
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton, M. et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702-705 (1998).
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
-
28
-
-
0034681471
-
Dopaminergic loss and inclusion body formation in α-synuclein mice: Implications for neurodegenerative disorders
-
Masliah, E. et al. Dopaminergic loss and inclusion body formation in α-synuclein mice: implications for neurodegenerative disorders. Science 287, 1265-1269 (2000). This paper shows that the accumulation of wild-type α-synuclein causes dopaminergic neuron dysfunction and loss in transgenic mice.
-
(2000)
Science
, vol.287
, pp. 1265-1269
-
-
Masliah, E.1
-
29
-
-
0034663176
-
Neuropathology in mice expressing human α-synuclein
-
van der Putten, H. et al. Neuropathology in mice expressing human α-synuclein. J. Neurosci. 20, 6021-6029 (2000).
-
(2000)
J. Neurosci.
, vol.20
, pp. 6021-6029
-
-
Van der Putten, H.1
-
30
-
-
0037118259
-
Neuronal α-synucleinopathy with severe movement disorder in mice expressing A53T human α-synuclein
-
Giasson, B. I. et al. Neuronal α-synucleinopathy with severe movement disorder in mice expressing A53T human α-synuclein. Neuron 34, 521-533 (2002).
-
(2002)
Neuron
, vol.34
, pp. 521-533
-
-
Giasson, B.I.1
-
31
-
-
0036855635
-
Misfolded proteinase-K resistant hyperphosphorylated α-synuclein in aged transgenic mice with locomotor deterioration and in α-synucleinopathies
-
Neumann, M. et al. Misfolded proteinase-K resistant hyperphosphorylated α-synuclein in aged transgenic mice with locomotor deterioration and in α-synucleinopathies. J. Clin. Invest. 110, 1429-1439 (2002).
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 1429-1439
-
-
Neumann, M.1
-
32
-
-
0037333642
-
Motor dysfunction and gliosis with preserved dopaminergic markers in human α-synuclein A30P transgenic mice
-
Gomez-Isla, T. et al. Motor dysfunction and gliosis with preserved dopaminergic markers in human α-synuclein A30P transgenic mice. Neurobiol Aging 24, 245-258 (2003).
-
(2003)
Neurobiol Aging
, vol.24
, pp. 245-258
-
-
Gomez-Isla, T.1
-
33
-
-
0035651255
-
BAC to the future: The use of BAC transgenic mice for neuroscience research
-
Heintz, N. BAC to the future: the use of BAC transgenic mice for neuroscience research. Nature Rev Neurosci. 2, 861-870 (2001). An excellent review of the usefulness of BAC transgenes as a tool for in vivo functional studies of genes implicated in nervous-system function and dysfunction.
-
(2001)
Nature Rev. Neurosci.
, vol.2
, pp. 861-870
-
-
Heintz, N.1
-
34
-
-
0035487293
-
Recombineering: A powerful new tool for mouse functional genomics
-
Copeland, N. G., Jenkins, N. A. & Court, D. L. Recombineering: a powerful new tool for mouse functional genomics. Nature Rev. Genet. 2, 769-779 (2001). This review gives full details of the recent technological advances in a phage-based homologous recombination system that enables the modification and subcloning of genomic DNA in BACs.
-
(2001)
Nature Rev. Genet.
, vol.2
, pp. 769-779
-
-
Copeland, N.G.1
Jenkins, N.A.2
Court, D.L.3
-
35
-
-
0019782799
-
Friedreich ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding, A. E. Friedreich ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104, 589-620 (1981).
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
36
-
-
13344270899
-
Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V. et al Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427 (1996).
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
-
37
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano, V. et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet, 8, 1771-1780 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.8
, pp. 1771-1780
-
-
Campuzano, V.1
-
38
-
-
0031253821
-
Frataxin gene expansion causes aconitase and mitochondrial iron-sulfer protein deficiency in Friedreich ataxia
-
Rötig, A. et al. Frataxin gene expansion causes aconitase and mitochondrial iron-sulfer protein deficiency in Friedreich ataxia. Nature Genet. 17, 215-217 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 215-217
-
-
Rötig, A.1
-
39
-
-
0034192352
-
Inactivation of Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
Cossée, M. et al. Inactivation of Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum. Mol. Genet. 9, 1219-1226 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1219-1226
-
-
Cossée, M.1
-
40
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defects and Fe-S enzyme deficiency followed by mitochondrial iron deposits
-
Puccio, H. et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defects and Fe-S enzyme deficiency followed by mitochondrial iron deposits Nature Genet. 27, 181-186 (2001). This paper reports on the creation of FRDA mouse models using conditional gene-targeting approaches. The mice reproduced both pathological and biochemical features of the human disease.
-
(2001)
Nature Genet.
, vol.27
, pp. 181-186
-
-
Puccio, H.1
-
41
-
-
18244408334
-
Frataxin knock-in mouse
-
Miranda, C. J. et al. Frataxin knock-in mouse. FEBS Lett 512, 291-297 (2002).
-
(2002)
FEBS Lett.
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
-
42
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic spinal muscular atrophy
-
Pearn, J. Incidence, prevalence, and gene frequency studies of chronic spinal muscular atrophy. J. Med. Genet. 15, 409-413 (1978).
-
(1978)
J. Med. Genet.
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
43
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson, C. L. & Androphy, E. J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9, 259-265 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
44
-
-
0036591665
-
The molecular bases of spinal muscular atrophy
-
Frugier, T., Nicole, S., Cifuentes-Diaz, C. & Melki, J. The molecular bases of spinal muscular atrophy. Curr Opin Genet. Dev. 12, 294-298 (2002).
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 294-298
-
-
Frugier, T.1
Nicole, S.2
Cifuentes-Diaz, C.3
Melki, J.4
-
45
-
-
0029954338
-
A novel nuclear structure containing the survival motor neurons protein
-
Liu, O. & Dreyfuss, G, A novel nuclear structure containing the survival motor neurons protein. EMBO J. 15, 3555-3564, (1996).
-
(1996)
EMBO J.
, vol.15
, pp. 3555-3564
-
-
Liu, O.1
Dreyfuss, G.2
-
46
-
-
0012624586
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
Schrank, B. et al. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos Proc. Natl Acad. Sci. USA 96, 6307-6311 (1997).
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 6307-6311
-
-
Schrank, B.1
-
47
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li, H. M. et al. A mouse model for spinal muscular atrophy, Nature Genet. 24, 66-70 (2000).
-
(2000)
Nature Genet.
, vol.24
, pp. 66-70
-
-
Hsieh-Li, H.M.1
-
48
-
-
0034639645
-
-/- mice and results in a mouse with spinal muscular atrophy
-
-/- mice and results in a mouse with spinal muscular atrophy Hum Mol. Genet. 9, 331-339 (2000). References 47 and 48 report the creation of transgenic mice carrying the entire human SMN2 gene on the Smn-null background. These approaches overcame the embryonic lethality seen in Smn-null mice, providing accurate mouse models for SMA and confirming that the disease severity is dependent on the copy number of SMN2 or levels of SMN protein.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 331-339
-
-
Monani, U.R.1
-
49
-
-
0014979663
-
Histological and histochemical changes from cases of chronic juvenile and early adult muscular spinal atrophy (the Kugelberg-Welander syndrome)
-
Mastaglia, F. L. & Walton, J. N. Histological and histochemical changes from cases of chronic juvenile and early adult muscular spinal atrophy (the Kugelberg-Welander syndrome). J. Neurol. Sci. 12, 15-44 (1971).
-
(1971)
J. Neurol. Sci.
, vol.12
, pp. 15-44
-
-
Mastaglia, F.L.1
Walton, J.N.2
-
50
-
-
0034701295
-
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscluar atrophy
-
Frugier, T. et al. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscluar atrophy. Hum. Mol. Genet. 9, 849-858 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 849-858
-
-
Frugier, T.1
-
51
-
-
0035809926
-
Deletion of munne Smn exon 7 directed to skeletal muscle leads to severe muscular atrophy
-
Cifuentes-Diaz, C. et al. Deletion of munne Smn exon 7 directed to skeletal muscle leads to severe muscular atrophy J. Cell. Biol. 152, 1107-1114 (2001).
-
(2001)
J. Cell. Biol.
, vol.152
, pp. 1107-1114
-
-
Cifuentes-Diaz, C.1
-
52
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang, J.-G. et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc. Natl Acad Sci. USA 98, 9808-9813 (2001). This paper shows that sodium butyrate treatment of SMA-like mice resulted in the increased expression of SMN protein in motor neurons and improvement of the phenotypes, indicating that sodium butyrate might be an effective drug for treating SMA patients.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 9808-9813
-
-
Chang, J.-G.1
-
53
-
-
0027958509
-
Mierophthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization
-
Lindsay, E. A. et al. Mierophthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization Am. J. Med. Genet. 49, 229-234 (1994).
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 229-234
-
-
Lindsay, E.A.1
-
54
-
-
0027403249
-
Incontinentia pigmenti (Bloch-Sulzberger syndrome)
-
Landy, S. J. & Donnai, D Incontinentia pigmenti (Bloch-Sulzberger syndrome). J. Med Genet. 30, 53-59 (1993).
-
(1993)
J. Med. Genet.
, vol.30
, pp. 53-59
-
-
Landy, S.J.1
Donnai, D.2
-
55
-
-
0036900297
-
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphtalmia with linear skin defects (MLS) syndrome
-
Prakash, S. K. et al. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphtalmia with linear skin defects (MLS) syndrome. Hum. Mol. Genet. 11, 3237-3248 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3237-3248
-
-
Prakash, S.K.1
-
56
-
-
0033634663
-
Female mice heterozygous for iKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
-
Makns, C. et al. Female mice heterozygous for iKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol. Cell 5, 969-979 (2000).
-
(2000)
Mol. Cell
, vol.5
, pp. 969-979
-
-
Makns, C.1
-
57
-
-
0036301947
-
A decade of molecular studies of fragile X syndrome
-
O'Donnel, W. T. & Warren, S. T. A. decade of molecular studies of fragile X syndrome. Annu. Rev Neurosci. 25, 315-338 (2002).
-
(2002)
Annu. Rev. Neurosci.
, vol.25
, pp. 315-338
-
-
O'Donnel, W.T.1
Warren, S.T.2
-
58
-
-
0028246435
-
Dutch-Belgian Fragile X Consortium. Fmr1 knockout mice: A model to study fragile X mental retardation
-
Dutch-Belgian Fragile X Consortium. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78, 23-33 (1994).
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
-
59
-
-
0034194228
-
(Over)correction of FMR1 deficiency with YAC transgenics: Behavioral and physical features
-
Peier, A. M. et al. (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features Hum. Mol. Genet. 9, 1145-1159 (2000). By analysing YAC transgenic mice that overexpress FMR1 protein on a Fmr1-null background, the authors suggested that the levels of FMR1 protein must be regulated to enable gene therapy to be considered for fragile X syndrome.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1145-1159
-
-
Peier, A.M.1
-
60
-
-
0025720084
-
Analysis of neocortex in three males with the fragile X syndrome
-
Hinton, V. J, Brown, W. T., Wisniewski, K. & Rudelli, R. D. Analysis of neocortex in three males with the fragile X syndrome. Am. J. Med. Genet. 41, 289-294 (1991).
-
(1991)
Am. J. Med. Genet.
, vol.41
, pp. 289-294
-
-
Hinton, V.J.1
Brown, W.T.2
Wisniewski, K.3
Rudelli, R.D.4
-
61
-
-
0021837533
-
Adult fragile X syndrome: Cliniconeuropathologic findings
-
Rudelli, R. D. et al. Adult fragile X syndrome: cliniconeuropathologic findings. Acta. Neuropathol. 67, 289-295 (1985).
-
(1985)
Acta. Neuropathol.
, vol.67
, pp. 289-295
-
-
Rudelli, R.D.1
-
62
-
-
0030986183
-
Abnormal dendritic spines in fragile X knockouts mice: Maturation and pruning deficits
-
Comery et al. Abnormal dendritic spines in fragile X knockouts mice: maturation and pruning deficits. Proc. Natl Acad. Sci USA 94, 5401-5404 (1997).
-
(1997)
Proc. Natl. Acad. Sci USA
, vol.94
, pp. 5401-5404
-
-
Comery1
-
63
-
-
0035879180
-
Abnormal development of dendritic spine in FMR1 knockout mice
-
Nimchinsky, E. A., Oberlander, A. M. & Svoboda, K. Abnormal development of dendritic spine in FMR1 knockout mice J. Neurosci. 21, 5139-5146 (2001).
-
(2001)
J. Neurosci.
, vol.21
, pp. 5139-5146
-
-
Nimchinsky, E.A.1
Oberlander, A.M.2
Svoboda, K.3
-
64
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan, M. et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65, 1520-1529 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
-
65
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-fike phenotype in mice
-
Chen, R. Z. et al. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-fike phenotype in mice. Nature Genet. 27, 327-331 (2001).
-
(2001)
Nature Genet.
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
-
66
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy, J. et al. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nature Genet. 27, 322-326 (2001). References 65 and 66 indicate that total Mecp2 deficiency in male mice models the more severe neonatal encephalopathy seen in humans. Importantly, these papers show that the phenotype is a result of the loss of Mecp2 function in neurons.
-
(2001)
Nature Genet.
, vol.27
, pp. 322-326
-
-
Guy, J.1
-
67
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperecetylation of histone H3
-
Shahbazian, M. D. et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperecetylation of histone H3. Neuron 35, 243-254 (2002). The authors generate a hypomorphic allele of Mecp2 to avoid lethality and establish a Rett phenotype in male mice, avoiding the confounding effect of XCI.
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.D.1
-
68
-
-
0032076307
-
Imprinting in Prader-Willi and Angelman syndrome
-
Nicholls, R. D., Saitoh, S. & Horsthemke, B. Imprinting in Prader-Willi and Angelman syndrome. Trends Genet, 14, 194-200 (1998).
-
(1998)
Trends Genet.
, vol.14
, pp. 194-200
-
-
Nicholls, R.D.1
Saitoh, S.2
Horsthemke, B.3
-
69
-
-
0029348110
-
Angelman syndrome
-
Williams, C. A. et al. Angelman syndrome, Curr. Prob. Pediatr. 25, 216-231 (1995).
-
(1995)
Curr. Prob. Pediatr.
, vol.25
, pp. 216-231
-
-
Williams, C.A.1
-
70
-
-
0032192481
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
-
Jiang, Y. et al. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21, 799-811 (1998).
-
(1998)
Neuron
, vol.21
, pp. 799-811
-
-
Jiang, Y.1
-
71
-
-
0036197031
-
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
-
Miura, K. et al. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice, Neurobiol. Dis. 9, 149-159 (2002).
-
(2002)
Neurobiol. Dis.
, vol.9
, pp. 149-159
-
-
Miura, K.1
-
72
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats
-
Reiner, O. et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 364, 717-721 (1993).
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
-
73
-
-
0031848149
-
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
-
Hirotsune, S. et al. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nature Genet. 19, 333-339 (1998). This work clearly indicates that Lis1 controls neuronal migration throughout the mouse brain in a dosage-dependent manner, by taking advantage of both null and hypomorphic alleles of the gene.
-
(1998)
Nature Genet.
, vol.19
, pp. 333-339
-
-
Hirotsune, S.1
-
74
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert, C. et al. A potassium channel mutation in neonatal human epilepsy. Science 279, 403-436 (1998).
-
(1998)
Science
, vol.279
, pp. 403-436
-
-
Biervert, C.1
-
75
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh, N. A. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet. 18, 25-29 (1998).
-
(1998)
Nature Genet.
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
-
76
-
-
0031974209
-
Pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Chalier, C. et al. pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet. 18, 53-55 (1998).
-
(1998)
Nature Genet.
, vol.18
, pp. 53-55
-
-
Chalier, C.1
-
77
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein, O. K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet, 11, 201-203 (1995).
-
(1995)
Nature Genet.
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
-
78
-
-
0033763090
-
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco, M. et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy Nature Genet. 26, 276-276 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 276
-
-
De Fusco, M.1
-
80
-
-
0030723590
-
2+ permeability, conductance, and gating of human α4β2 nicotinic ecetylcholine receptors
-
2+ permeability, conductance, and gating of human α4β2 nicotinic ecetylcholine receptors. J. Neurosci 17, 9035-9047 (1997).
-
(1997)
J. Neurosci.
, vol.17
, pp. 9035-9047
-
-
Kuryatov, A.1
Gerzanich, V.2
Nelson, M.3
Olale, F.4
Lindstrom, J.5
-
81
-
-
0035163074
-
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Phillips, H. A. et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68, 226-231 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 226-231
-
-
Phillips, H.A.1
-
82
-
-
0034214261
-
Nicotinic receptor function: New perspectives from knockout mice
-
Cordero-Erauquin, M. et al. Nicotinic receptor function: new perspectives from knockout mice. Trends Pharmacol. Sci. 21, 211-217 (2000).
-
(2000)
Trends Pharmacol. Sci.
, vol.21
, pp. 211-217
-
-
Cordero-Erauquin, M.1
-
83
-
-
0035030766
-
A receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene
-
A receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nature Genet. 28, 46-48 (2001).
-
(2001)
Nature Genet.
, vol.28
, pp. 46-48
-
-
Baulac, S.1
-
84
-
-
0035033520
-
A receptor γ-subunit in childhood absence epilepsy and febrile seizures
-
A receptor γ-subunit in childhood absence epilepsy and febrile seizures. Nature Genet. 28, 49-52 (2001).
-
(2001)
Nature Genet.
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
-
85
-
-
0029097465
-
Benzodiazepine-insensitive mice generated by targeted disruption of the γ2 subunit of γ-aminobutyric acid type A receptors
-
Günther, U. et al. Benzodiazepine-insensitive mice generated by targeted disruption of the γ2 subunit of γ-aminobutyric acid type A receptors. Proc. Natl. Acad. Sci. USA 92, 7795-7753 (1995).
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 7795-7753
-
-
Günther, U.1
-
86
-
-
0032968683
-
Voltage-dependent calcium channel mutations in neurological disease
-
Burgess, D. L. & Noebels, J. Voltage-dependent calcium channel mutations in neurological disease. Ann. NY Acad. Sci. 868, 199-212 (1999).
-
(1999)
Ann. NY Acad. Sci.
, vol.868
, pp. 199-212
-
-
Burgess, D.L.1
Noebels, J.2
-
87
-
-
0033593005
-
2+ channel currents, altered synaptic transmission, and progressive ataxia in mice lacking α1A subunit
-
2+ channel currents, altered synaptic transmission, and progressive ataxia in mice lacking α1A subunit Proc, Natl Acad. Sci. USA 96, 15246-15250 (1999).
-
(1999)
Proc, Natl. Acad. Sci. USA
, vol.96
, pp. 15246-15250
-
-
Jun, K.1
-
88
-
-
0035828406
-
Human epilepsy associated with dysfunction of the brain P/Q type calcium channel
-
Jouvenceau, A. et al. Human epilepsy associated with dysfunction of the brain P/Q type calcium channel. Lancet 358, 801-807 (2001).
-
(2001)
Lancet
, vol.358
, pp. 801-807
-
-
Jouvenceau, A.1
-
89
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
Escayg, A. et al. Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J. Hum Genet. 66, 1531-1539 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1531-1539
-
-
Escayg, A.1
-
90
-
-
0035464960
-
Monogenic causes of X-linked mental retardation
-
Chelly, J. & Mandel, J.-L. Monogenic causes of X-linked mental retardation. Nature Rev. Genet 2, 669-680 (2001).
-
(2001)
Nature Rev. Genet.
, vol.2
, pp. 669-680
-
-
Chelly, J.1
Mandel, J.-L.2
-
91
-
-
0036798191
-
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
-
D'Adamo, P. et al. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum. Mol. Genet 11, 2567-2580 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2567-2580
-
-
D'Adamo, P.1
-
92
-
-
0036549187
-
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice
-
Gu, Y. et al. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J. Neurosci, 22, 2753-2763 (2002).
-
(2002)
J. Neurosci.
, vol.22
, pp. 2753-2763
-
-
Gu, Y.1
-
93
-
-
0000544518
-
-
eds Scriver, C R., Beaudet, A. L., Sly, W, S. & Valle, D. McGraw-Hill, New York
-
Jinnah, H. A. & Friedmann, T. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C R., Beaudet, A. L., Sly, W, S. & Valle, D.) 2537-2570 (McGraw-Hill, New York, 2001).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2537-2570
-
-
Jinnah, H.A.1
Friedmann, T.2
-
94
-
-
0023150598
-
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells
-
Hooper, M., Hardy, K., Handyside, A, Hunter, S. & Monk, M. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326, 292-295 (1987).
-
(1987)
Nature
, vol.326
, pp. 292-295
-
-
Hooper, M.1
Hardy, K.2
Handyside, A.3
Hunter, S.4
Monk, M.5
-
95
-
-
0023090920
-
A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations in mice
-
Kuehn, M. R., Bradley, A, Robertson, E. J. & Evans, M. J. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations in mice. Nature 326, 295-298 (1987).
-
(1987)
Nature
, vol.326
, pp. 295-298
-
-
Kuehn, M.R.1
Bradley, A.2
Robertson, E.J.3
Evans, M.J.4
-
96
-
-
0028299278
-
Characterization of benzodiazepine-sensitive behaviors in the A/J and C57BL/6J inbred strains of mice
-
Mathis, C., Paul, S. N. & Crawley, J. N. Characterization of benzodiazepine-sensitive behaviors in the A/J and C57BL/6J inbred strains of mice. Behav. Genet. 2, 171-180 (1994).
-
(1994)
Behav. Genet.
, vol.2
, pp. 171-180
-
-
Mathis, C.1
Paul, S.N.2
Crawley, J.N.3
-
97
-
-
0029940557
-
Gene-targeting studies of the mammalian behavior: Is it the mutation or the background phenotype?
-
Gerlai, R. Gene-targeting studies of the mammalian behavior: is it the mutation or the background phenotype? Trends Neurosci. 19, 177-181 (1996).
-
(1996)
Trends Neurosci.
, vol.19
, pp. 177-181
-
-
Gerlai, R.1
-
98
-
-
0031714678
-
Contextual learning and cue association in fear conditioning in mice: A strain comparison and lesion study
-
Gerlai, R. Contextual learning and cue association in fear conditioning in mice: a strain comparison and lesion study. Behav. Brain Res. 95, 191-203 (1998).
-
(1998)
Behav. Brain Res.
, vol.95
, pp. 191-203
-
-
Gerlai, R.1
-
99
-
-
0025959353
-
FVB/N: An inbred mouse strain preferable for transgenic analysis
-
Taketo, M. et al. FVB/N: an inbred mouse strain preferable for transgenic analysis. Proc. Natl Acad. Sci USA 88, 2065-2069 (1991).
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 2065-2069
-
-
Taketo, M.1
-
100
-
-
0036148883
-
Behavioral and neuroanatomical characterization of FVB/N inbred mice
-
Mineur, Y. S. & Crusio, W. E. Behavioral and neuroanatomical characterization of FVB/N inbred mice. Brain Res. Bull 57, 41-47 (2002).
-
(2002)
Brain Res. Bull.
, vol.57
, pp. 41-47
-
-
Mineur, Y.S.1
Crusio, W.E.2
-
101
-
-
9844255568
-
Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice
-
Carlson, G. A. et al. Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice. Hum. Mol. Genet. 6, 1951-1959 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1951-1959
-
-
Carlson, G.A.1
-
102
-
-
0034537966
-
Genetic mapping of a mouse modifier gene that can prevent ALS onset
-
Kunst, C. B., Messer, L., Gordon, J., Haines, J. & Patterson, D. Genetic mapping of a mouse modifier gene that can prevent ALS onset. Genomics, 70, 181-189 (2000).
-
(2000)
Genomics
, vol.70
, pp. 181-189
-
-
Kunst, C.B.1
Messer, L.2
Gordon, J.3
Haines, J.4
Patterson, D.5
-
103
-
-
15844393658
-
Motor neurons in Cu/Zn superoxide dismutase deficient mice develop normally but exhibit enhanced cell death after axonal injury
-
Reaume, A. G, et al. Motor neurons in Cu/Zn superoxide dismutase deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nature Genet. 13, 43-47 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 43-47
-
-
Reaume, A.G.1
-
104
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation
-
Gurney, M. E. et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 264, 1772-1775 (1994).
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
-
105
-
-
0029053881
-
An adverse property of familial ALS linked SOD1 mutation causes motor neuron disease characterized by vacuclar degeneration of mitochondria
-
Wong, P. C. et al. An adverse property of familial ALS linked SOD1 mutation causes motor neuron disease characterized by vacuclar degeneration of mitochondria. Neuron 14, 1105-1116 (1995).
-
(1995)
Neuron
, vol.14
, pp. 1105-1116
-
-
Wong, P.C.1
-
106
-
-
0028888945
-
Transgenic mice expressing superoxide dismutase gene provide an animal model of amyotrephic lateral sclerosis
-
Ripps, M. E., Huntley, G. W., Hof, P. R., Mornson, J. H. & Gordon, J. W. Transgenic mice expressing superoxide dismutase gene provide an animal model of amyotrephic lateral sclerosis. Proc. Natl Acad Sci. USA, 92, 689-693 (1995).
-
(1995)
Proc. Natl. Acad Sci. USA
, vol.92
, pp. 689-693
-
-
Ripps, M.E.1
Huntley, G.W.2
Hof, P.R.3
Mornson, J.H.4
Gordon, J.W.5
-
107
-
-
0031051485
-
ALS linked SOD1 mutant G85R mediates damage to astrocyte and promotes rapidly progressive disease with SOD1 containing inclusions
-
Bruljn, L. I. et al. ALS linked SOD1 mutant G85R mediates damage to astrocyte and promotes rapidly progressive disease with SOD1 containing inclusions. Neuron 18, 327-338 (1997).
-
(1997)
Neuron
, vol.18
, pp. 327-338
-
-
Bruljn, L.I.1
-
108
-
-
0037014426
-
Protein misfolding, amyloid formation, and neurodegeneration: A critical role for molecular chaperones?
-
Muchowski, P. J. Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones? Neuron 35, 9-12 (2002).
-
(2002)
Neuron
, vol.35
, pp. 9-12
-
-
Muchowski, P.J.1
-
109
-
-
0033946710
-
Prions, peptides and protein misfolding
-
Cohen, F. E. Prions, peptides and protein misfolding. Mol. Med. Today 6, 292-293 (2000).
-
(2000)
Mol. Med. Today
, vol.6
, pp. 292-293
-
-
Cohen, F.E.1
-
110
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies, S. W. et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548 (1997).
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
-
111
-
-
12644284502
-
α-Galactosidase A deficient mice: A model of Fabry disease
-
Oshima, T. et al. α-galactosidase A deficient mice: a model of Fabry disease. Proc. Natl Acad. Sci. USA 94, 2540-2544 (1997).
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 2540-2544
-
-
Oshima, T.1
-
112
-
-
0030689779
-
Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice
-
Forss-Petter, S. et al. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci. Res. 50, 829-843 (1997).
-
(1997)
J. Neurosci. Res.
, vol.50
, pp. 829-843
-
-
Forss-Petter, S.1
-
113
-
-
0035150547
-
Gene therapy for Fabry disease
-
Siatskas, C. & Medin, J. A. Gene therapy for Fabry disease. J Inherit. Metab. Dis. 24 (Suppl.) 25-41 (2001).
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.SUPPL.
, pp. 25-41
-
-
Siatskas, C.1
Medin, J.A.2
-
114
-
-
0031730433
-
Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
-
Kemp, S. et. al. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy, Nature Med, 4, 1261-1268 (1998).
-
(1998)
Nature Med.
, vol.4
, pp. 1261-1268
-
-
Kemp, S.1
-
115
-
-
0032924991
-
Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): Implications for therapy
-
Netik, A. et al. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. Hum. Mol. Genet. 8, 907-913 (1999).
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 907-913
-
-
Netik, A.1
-
116
-
-
0037015889
-
Tools for targeted manipulation of the mouse genome
-
van der Weyden, L., Adams, D. J. & Bradley, A. Tools for targeted manipulation of the mouse genome. Physiol. Genomics, 11, 133-164 (2002). This review covers recent technological advances in mouse genomic engineering.
-
(2002)
Physiol. Genomics
, vol.11
, pp. 133-164
-
-
Van der Weyden, L.1
Adams, D.J.2
Bradley, A.3
-
117
-
-
0035491607
-
Conditional control of gene expression in mouse
-
Lewandoski, M Conditional control of gene expression in mouse, Nature Rev. Genet. 2, 743-755 (2001).
-
(2001)
Nature Rev. Genet.
, vol.2
, pp. 743-755
-
-
Lewandoski, M.1
-
118
-
-
0034766425
-
Application of magnetic resonance to animal models of cerebral ischemia
-
Hoehn, M. et al. Application of magnetic resonance to animal models of cerebral ischemia, J. Magn, Reson. Imaging 14, 491-509 (2001).
-
(2001)
J. Magn. Reson. Imaging
, vol.14
, pp. 491-509
-
-
Hoehn, M.1
-
119
-
-
0037022288
-
β-Amyloid precursor transgenic mice that harbor diffuse Aβ deposits but do not form plaques show increased ischemic vulnerability: Role of inflammation
-
Koistinaho, M et al. β-amyloid precursor transgenic mice that harbor diffuse Aβ deposits but do not form plaques show increased ischemic vulnerability: role of inflammation, Proc. Natl Acad. Sci. USA 99, 1610-1615 (2002).
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 1610-1615
-
-
Koistinaho, M.1
-
120
-
-
0037104754
-
Compromised hemodynamic response in amyloid precursor protein transgenic mice
-
Mueggler, T. et al. Compromised hemodynamic response in amyloid precursor protein transgenic mice. J. Neurosci 22, 7218-7224(2002).
-
(2002)
J. Neurosci.
, vol.22
, pp. 7218-7224
-
-
Mueggler, T.1
-
121
-
-
0034517627
-
Imaging physiologic dysfunction of individual hippocampal subregions in humans and genetically modified mice
-
Small, S. A. et al. Imaging physiologic dysfunction of individual hippocampal subregions in humans and genetically modified mice. Neuron 28, 653-664 (2000).
-
(2000)
Neuron
, vol.28
, pp. 653-664
-
-
Small, S.A.1
-
122
-
-
0034691124
-
In vivo detection of amyloid plaques in a mouse model of Alzheimer's disease
-
Skovronsky, D. M. et al. In vivo detection of amyloid plaques in a mouse model of Alzheimer's disease. Proc. Natl Acad. Sci. USA 97, 7609-7614 (2000).
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 7609-7614
-
-
Skovronsky, D.M.1
-
123
-
-
0033883760
-
Targeting Alzheimer amyloid plaques in vivo
-
Wengenack, T. M., Curran, G. L. & Podulso, J. F. Targeting Alzheimer amyloid plaques in vivo. Nature Biotechnol. 18, 868-872 (2000).
-
(2000)
Nature Biotechnol.
, vol.18
, pp. 868-872
-
-
Wengenack, T.M.1
Curran, G.L.2
Podulso, J.F.3
-
124
-
-
0035106780
-
Imaging of amyloid-β deposits in brains of living mice permits direct observation of clearance of plaques with immunotherapy
-
Bacskai, B. J. et al. Imaging of amyloid-β deposits in brains of living mice permits direct observation of clearance of plaques with immunotherapy. Nature Med. 7, 369-372 (2001).
-
(2001)
Nature Med.
, vol.7
, pp. 369-372
-
-
Bacskai, B.J.1
-
125
-
-
0036965918
-
Molecular targeting of Alzheimer's amyloid plaques for contrast-enhanced magnetic resonance imaging
-
Poduslo, J. F. et al. Molecular targeting of Alzheimer's amyloid plaques for contrast-enhanced magnetic resonance imaging. Neurobiol. Dis. 11, 315-329 (2002).
-
(2002)
Neurobiol. Dis.
, vol.11
, pp. 315-329
-
-
Poduslo, J.F.1
-
126
-
-
0034660457
-
Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease
-
Ferrante, R. J. et al. Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease. J. Neurosci. 20, 4389-4397 (2000).
-
(2000)
J. Neurosci.
, vol.20
, pp. 4389-4397
-
-
Ferrante, R.J.1
-
127
-
-
0034743672
-
Creatine increases survival and delays motor symptoms in a transgenic animal model of Huntington's disease (2001)
-
Andreassen, O. A. et al. Creatine increases survival and delays motor symptoms in a transgenic animal model of Huntington's disease (2001). Neurobiol. Dis. 8, 479-491 (2001).
-
(2001)
Neurobiol. Dis.
, vol.8
, pp. 479-491
-
-
Andreassen, O.A.1
-
128
-
-
0036523110
-
Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease
-
Ferrante, R. J. et al. Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. J. Neurosci. 22 1592-1599 (2002).
-
(2002)
J. Neurosci.
, vol.22
, pp. 1592-1599
-
-
Ferrante, R.J.1
-
129
-
-
0033587128
-
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
-
Ona, V. O. et al. Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 399, 263-267 (1999).
-
(1999)
Nature
, vol.399
, pp. 263-267
-
-
Ona, V.O.1
-
130
-
-
0034955984
-
Dichloroacetate exerts therapeutic effects in transgenic mouse models of Huntington's disease
-
Andreassen O. A. et al. Dichloroacetate exerts therapeutic effects in transgenic mouse models of Huntington's disease. Ann. Neurol 50, 112-116 (2001).
-
(2001)
Ann. Neurol.
, vol.50
, pp. 112-116
-
-
Andreassen, O.A.1
-
131
-
-
0037109665
-
Therapeutic effects of cystamine in a murine model of Huntington's disease
-
Dedeoglu, A. et al. Therapeutic effects of cystamine in a murine model of Huntington's disease. J, Neurosci, 22, 8942-8950 (2002).
-
(2002)
J. Neurosci.
, vol.22
, pp. 8942-8950
-
-
Dedeoglu, A.1
-
132
-
-
0033912716
-
Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease
-
Chen M. et aL Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nature Med. 6, 797-801 (2000).
-
(2000)
Nature Med.
, vol.6
, pp. 797-801
-
-
Chen, M.1
-
133
-
-
85009226418
-
A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease
-
Huntington Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease Neurology 57, 397-404 (2001).
-
(2001)
Neurology
, vol.57
, pp. 397-404
-
-
-
134
-
-
0031171578
-
A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of traragenic and knockout mice
-
Crawley, J. N. & Paylor, R. E. A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of traragenic and knockout mice. Horm. Behav. 31, 197-211 (1997).
-
(1997)
Horm. Behav.
, vol.31
, pp. 197-211
-
-
Crawley, J.N.1
Paylor, R.E.2
-
135
-
-
0034639931
-
Towards new models of disease and physiology in the neurosciences: The role of induced and naturally occurring mutations
-
Hunter, A. J. Nolan, P. M. & Brown, S. D. M. Towards new models of disease and physiology in the neurosciences: the role of induced and naturally occurring mutations. Hum. Mol. Genet. 9, 893-900 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 893-900
-
-
Hunter, A.J.1
Nolan, P.M.2
Brown, S.D.M.3
-
136
-
-
0034068758
-
List of transgenic and knockout mice: Behavioral profiles
-
Bolivar, V., Cook, M. & Flaherty, L. List of transgenic and knockout mice: behavioral profiles. Mamm. Genome 11, 260-274 (2000).
-
(2000)
Mamm. Genome
, vol.11
, pp. 260-274
-
-
Bolivar, V.1
Cook, M.2
Flaherty, L.3
-
137
-
-
0034910512
-
Long-term consequences of developmental exposure to aluminium in a suboptimal diet for growth and behavior of Swiss Webster mice
-
Golub, M. S. & Germann, S. L Long-term consequences of developmental exposure to aluminium in a suboptimal diet for growth and behavior of Swiss Webster mice. Neurotoxicol. Teratol. 23, 365-372 (2001).
-
(2001)
Neurotoxicol. Teratol.
, vol.23
, pp. 365-372
-
-
Golub, M.S.1
Germann, S.L.2
-
138
-
-
0030864463
-
Purkinje cell expression of a mutant allele of SCA 1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
-
Clark, H. B. et al. Purkinje cell expression of a mutant allele of SCA 1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J. Neurosci. 17, 7385-7395 (1997).
-
(1997)
J. Neurosci.
, vol.17
, pp. 7385-7395
-
-
Clark, H.B.1
-
139
-
-
0034234894
-
Conditional bialleic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2
-
Giovannini M. et al. Conditional bialleic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes. Dev. 14, 1617-1630 (2000).
-
(2000)
Genes. Dev.
, vol.14
, pp. 1617-1630
-
-
Giovannini, M.1
-
140
-
-
0036571383
-
Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse
-
Kalamarides M. et al. Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse. Genes. Dev. 16, 1060-1065 (2002).
-
(2002)
Genes. Dev.
, vol.16
, pp. 1060-1065
-
-
Kalamarides, M.1
-
141
-
-
0029113867
-
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglloside metabolism
-
Sango, K. et al. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglloside metabolism. Nature Genet. 11, 170-176 (1995).
-
(1995)
Nature Genet.
, vol.11
, pp. 170-176
-
-
Sango, K.1
-
142
-
-
9044236158
-
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases
-
Phaneuf, D. et al. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum. Mol. Genet. 5, 1-14 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1-14
-
-
Phaneuf, D.1
-
143
-
-
0035910076
-
Delayed-onset ataxia in mice lacking α-tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress
-
Yokota, T. et al. Delayed-onset ataxia in mice lacking α-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. Proc. Natl Acad. Sci. USA 98, 15185-15190 (2001).
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 15185-15190
-
-
Yokota, T.1
-
145
-
-
0028133486
-
Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene
-
Kagawa, T. et al. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene, Neuron 13, 427-442 (1994).
-
(1994)
Neuron
, vol.13
, pp. 427-442
-
-
Kagawa, T.1
-
146
-
-
0031037761
-
Assembly of CNS myelin in the absence of proteolipid protein
-
Klugmann, M. et al. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 18, 59-70 (1997).
-
(1997)
Neuron
, vol.18
, pp. 59-70
-
-
Klugmann, M.1
-
147
-
-
0032486428
-
Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
-
Griffiths, I. et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280, 1610-1613 (1998).
-
(1998)
Science
, vol.280
, pp. 1610-1613
-
-
Griffiths, I.1
-
148
-
-
0035862896
-
Neurological abnormalities in a knock-in mouse model of Huntington's disease
-
Lin, C. H. et al. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 15, 137-144, (2001).
-
(2001)
Hum. Mol. Genet.
, vol.15
, pp. 137-144
-
-
Lin, C.H.1
-
149
-
-
0037108766
-
Generation and characterization of androgen receptor knockout (ARKO) mice: An in vivo model for the study of androgen functions in selective tissues
-
Yeh, S. et al. Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues. Proc. Natl Acad. Sci. USA 99, 13498-13503 (2002).
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 13498-13503
-
-
Yeh, S.1
|