-
1
-
-
0014735873
-
The genetic component in child mortality
-
Roberts, D.F., Chavez, J. and Court, S.D. (1970) The genetic component in child mortality. Arch. Dis. Child, 45, 33-38.
-
(1970)
Arch. Dis. Child
, vol.45
, pp. 33-38
-
-
Roberts, D.F.1
Chavez, J.2
Court, S.D.3
-
2
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
Crawford, T.O. and Pardo, C.A. (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis., 3, 97-110.
-
(1996)
Neurobiol. Dis.
, vol.3
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
3
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M. et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
4
-
-
0030863569
-
When is a deletion not a deletion? When it is converted
-
Burghes, A.H. (1997) When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet., 61, 9-15.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 9-15
-
-
Burghes, A.H.1
-
5
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Le, T., Burghes, A.H. and Androphy, E.J. (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat. Genet., 19, 63-66.
-
(1998)
Nat. Genet.
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
Strasswimmer, J.2
Yao, J.M.3
Baleja, J.D.4
Hahnen, E.5
Wirth, B.6
Le, T.7
Burghes, A.H.8
Androphy, E.J.9
-
6
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson, C.L. and Androphy, E.J. (2000) An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet., 9, 259-265.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
7
-
-
61749099937
-
Regulation of SMN protein stability
-
Burnett, B.G., Munoz, E., Tandon, A., Kwon, D.Y., Sumner, C.J. and Fischbeck, K.H. (2009) Regulation of SMN protein stability. Mol. Cell Biol., 29, 1107-1115.
-
(2009)
Mol. Cell Biol.
, vol.29
, pp. 1107-1115
-
-
Burnett, B.G.1
Munoz, E.2
Tandon, A.3
Kwon, D.Y.4
Sumner, C.J.5
Fischbeck, K.H.6
-
8
-
-
67651083390
-
Spinal muscular atrophy:why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes, A.H. and Beattie, C.E. (2009) Spinal muscular atrophy:why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci, 10, 597-609.
-
(2009)
Nat. Rev. Neurosci
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
9
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
Kariya, S., Park, G.H., Maeno-Hikichi, Y., Leykekhman, O., Lutz, C., Arkovitz, M.S., Landmesser, L.T. and Monani, U.R. (2008) Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum. Mol. Genet., 16, 2552-2569.
-
(2008)
Hum. Mol. Genet.
, vol.16
, pp. 2552-2569
-
-
Kariya, S.1
Park, G.H.2
Maeno-Hikichi, Y.3
Leykekhman, O.4
Lutz, C.5
Arkovitz, M.S.6
Landmesser, L.T.7
Monani, U.R.8
-
10
-
-
50849110114
-
Embryonic motor axon development in the severe SMA mouse
-
McGovern, V.L., Gavrilina, T.O., Beattie, C.E. and Burghes, A.H. (2008) Embryonic motor axon development in the severe SMA mouse. Hum. Mol. Genet., 17, 2900-2909.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2900-2909
-
-
McGovern, V.L.1
Gavrilina, T.O.2
Beattie, C.E.3
Burghes, A.H.4
-
11
-
-
41149113045
-
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
-
Murray, L.M., Comley, L.H., Thomson, D., Parkinson, N., Talbot, K. and Gillingwater, T.H. (2008) Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum. Mol. Genet., 17, 949-962.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 949-962
-
-
Murray, L.M.1
Comley, L.H.2
Thomson, D.3
Parkinson, N.4
Talbot, K.5
Gillingwater, T.H.6
-
12
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
Monani, U.R., Sendtner, M., Coovert, D.D., Parsons, D.W., Andreassi, C., Le, T.T., Jablonka, S., Schrank, B., Rossoll, W., Prior, T.W. et al. (2000) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet., 9, 333-339.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 333-339
-
-
Monani, U.R.1
Sendtner, M.2
Coovert, D.D.3
Parsons, D.W.4
Andreassi, C.5
Le, T.T.6
Jablonka, S.7
Schrank, B.8
Rossoll, W.9
Prior, T.W.10
-
13
-
-
41849090089
-
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle- specific SMN expression has no phenotypic effect
-
Gavrilina, T.O., McGovern, V.L.,Workman, E., Crawford, T.O., Gogliotti, R.G., DiDonato, C.J., Monani, U.R., Morris, G.E. and Burghes, A.H. (2008) Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle- specific SMN expression has no phenotypic effect. Hum. Mol. Genet., 17, 1063-1075.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1063-1075
-
-
Gavrilina, T.O.1
McGovern, V.L.2
Workman, E.3
Crawford, T.O.4
Gogliotti, R.G.5
DiDonato, C.J.6
Monani, U.R.7
Morris, G.E.8
Burghes, A.H.9
-
14
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
Foust, K.D.,Wang, X., McGovern, V.L., Braun, L., Bevan, A.K., Haidet, A.M., Le, T.T., Morales, P.R., Rich, M.M., Burghes, A.H. et al. (2010) Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat. Biotechnol., 28, 271-274.
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 271-274
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
Braun, L.4
Bevan, A.K.5
Haidet, A.M.6
Le, T.T.7
Morales, P.R.8
Rich, M.M.9
Burghes, A.H.10
-
15
-
-
67649861393
-
Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons
-
Duque, S., Joussemet, B., Riviere, C., Marais, T., Dubreil, L., Douar, A.M., Fyfe, J., Moullier, P., Colle, M.A. and Barkats, M. (2009) Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol. Ther., 17, 1187-1196.
-
(2009)
Mol. Ther.
, vol.17
, pp. 1187-1196
-
-
Duque, S.1
Joussemet, B.2
Riviere, C.3
Marais, T.4
Dubreil, L.5
Douar, A.M.6
Fyfe, J.7
Moullier, P.8
Colle, M.A.9
Barkats, M.10
-
16
-
-
84952874299
-
Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA-a dose response study in mice and nonhuman primates
-
Meyer, K., Ferraiuolo, L., Schmelzer, L., Braun, L., McGovern, V., Likhite, S., Michels, O., Govoni, A., Fitzgerald, J., Morales, P. et al. (2013) Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA-a dose response study in mice and nonhuman primates. Mol. Ther., 12, 2148-2159.
-
(2013)
Mol. Ther.
, vol.12
, pp. 2148-2159
-
-
Meyer, K.1
Ferraiuolo, L.2
Schmelzer, L.3
Braun, L.4
McGovern, V.5
Likhite, S.6
Michels, O.7
Govoni, A.8
Fitzgerald, J.9
Morales, P.10
-
17
-
-
34247388843
-
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
-
Hua, Y., Vickers, T.A., Baker, B.F., Bennett, C.F. and Krainer, A.R. (2007) Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol., 5, e73.
-
(2007)
PLoS Biol.
, vol.5
, pp. e73
-
-
Hua, Y.1
Vickers, T.A.2
Baker, B.F.3
Bennett, C.F.4
Krainer, A.R.5
-
18
-
-
79952348568
-
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
-
72ra18
-
Passini, M.A., Bu, J., Richards, A.M., Kinnecom, C., Sardi, S.P., Stanek, L.M., Hua, Y., Rigo, F.,Matson, J., Hung, G. et al. (2011) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci. Transl. Med., 3, 72ra18.
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Passini, M.A.1
Bu, J.2
Richards, A.M.3
Kinnecom, C.4
Sardi, S.P.5
Stanek, L.M.6
Hua, Y.7
Rigo, F.8
Matson, J.9
Hung, G.10
-
19
-
-
84858256924
-
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
-
Porensky, P.N., Mitrpant, C., McGovern, V.L., Bevan, A.K., Foust, K.D., Kaspar, B.K., Wilton, S.D. and Burghes, A.H. (2012) A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum. Mol. Genet., 21, 1625-1638.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1625-1638
-
-
Porensky, P.N.1
Mitrpant, C.2
McGovern, V.L.3
Bevan, A.K.4
Foust, K.D.5
Kaspar, B.K.6
Wilton, S.D.7
Burghes, A.H.8
-
20
-
-
84905898467
-
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
-
Naryshkin, N.A., Weetall, M., Dakka, A., Narasimhan, J., Zhao, X., Feng, Z., Ling, K.K.Y., Karp, G.M., Qi, H., Woll, M.G. et al. (2014) SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science, 345, 688-693.
-
(2014)
Science
, vol.345
, pp. 688-693
-
-
Naryshkin, N.A.1
Weetall, M.2
Dakka, A.3
Narasimhan, J.4
Zhao, X.5
Feng, Z.6
Ling, K.K.Y.7
Karp, G.M.8
Qi, H.9
Woll, M.G.10
-
21
-
-
80053902729
-
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
-
Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C.F. and Krainer, A.R. (2011) Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature, 478, 123-126.
-
(2011)
Nature
, vol.478
, pp. 123-126
-
-
Hua, Y.1
Sahashi, K.2
Rigo, F.3
Hung, G.4
Horev, G.5
Bennett, C.F.6
Krainer, A.R.7
-
22
-
-
77955602597
-
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
-
Valori, C.F., Ning, K., Wyles, M., Mead, R.J., Grierson, A.J., Shaw, P.J. and Azzouz, M. (2010) Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci. Transl. Med., 2, 35ra42.
-
(2010)
Sci. Transl. Med.
, vol.2
, pp. 35ra42
-
-
Valori, C.F.1
Ning, K.2
Wyles, M.3
Mead, R.J.4
Grierson, A.J.5
Shaw, P.J.6
Azzouz, M.7
-
23
-
-
78751700314
-
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
-
Dominguez, E., Marais, T., Chatauret, N., Benkhelifa-Ziyyat, S., Duque, S., Ravassard, P., Carcenac, R., Astord, S., de Moura, A.P., Voit, T. et al. (2011) Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum. Mol. Genet., 20, 681-693.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 681-693
-
-
Dominguez, E.1
Marais, T.2
Chatauret, N.3
Benkhelifa-Ziyyat, S.4
Duque, S.5
Ravassard, P.6
Carcenac, R.7
Astord, S.8
de Moura, A.P.9
Voit, T.10
-
24
-
-
79960987691
-
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
-
Lutz, C.M., Kariya, S., Patruni, S., Osborne, M.A., Liu, D., Henderson, C.E., Li, D.K., Pellizzoni, L., Rojas, J., Valenzuela, D.M. et al. (2011) Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J. Clin. Invest., 121, 3029-3041.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 3029-3041
-
-
Lutz, C.M.1
Kariya, S.2
Patruni, S.3
Osborne, M.A.4
Liu, D.5
Henderson, C.E.6
Li, D.K.7
Pellizzoni, L.8
Rojas, J.9
Valenzuela, D.M.10
-
25
-
-
80052219408
-
Temporal requirement for high SMN expression in SMA mice
-
Le, T.T., McGovern, V.L., Alwine, I.E., Wang, X., Massoni-Laporte, A., Rich, M.M. and Burghes, A.H. (2011) Temporal requirement for high SMN expression in SMA mice. Hum. Mol. Genet., 20, 3578-3591.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3578-3591
-
-
Le, T.T.1
McGovern, V.L.2
Alwine, I.E.3
Wang, X.4
Massoni-Laporte, A.5
Rich, M.M.6
Burghes, A.H.7
-
26
-
-
77956603926
-
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
-
Park, G.H., Maeno-Hikichi, Y., Awano, T., Landmesser, L.T. and Monani, U.R. (2010) Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J. Neurosci., 30, 12005-12019.
-
(2010)
J. Neurosci.
, vol.30
, pp. 12005-12019
-
-
Park, G.H.1
Maeno-Hikichi, Y.2
Awano, T.3
Landmesser, L.T.4
Monani, U.R.5
-
27
-
-
84862883258
-
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy
-
Martinez, T.L., Kong, L., Wang, X., Osborne, M.A., Crowder, M.E., Van Meerbeke, J.P., Xu, X., Davis, C.,Wooley, J., Goldhamer, D.J. et al. (2012) Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J. Neurosci., 32, 8703-8715.
-
(2012)
J. Neurosci.
, vol.32
, pp. 8703-8715
-
-
Martinez, T.L.1
Kong, L.2
Wang, X.3
Osborne, M.A.4
Crowder, M.E.5
Van Meerbeke, J.P.6
Xu, X.7
Davis, C.8
Wooley, J.9
Goldhamer, D.J.10
-
28
-
-
84884512903
-
Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons
-
Paez-Colasante, X., Seaberg, B., Martinez, T.L., Kong, L., Sumner, C.J. and Rimer, M. (2013) Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One, 8, e75866.
-
(2013)
PLoS One
, vol.8
, pp. e75866
-
-
Paez-Colasante, X.1
Seaberg, B.2
Martinez, T.L.3
Kong, L.4
Sumner, C.J.5
Rimer, M.6
-
29
-
-
84858054407
-
Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensorymotor defects are a consequence, not a cause, of motor neuron dysfunction
-
Gogliotti, R.G., Quinlan, K.A., Barlow, C.B., Heier, C.R., Heckman, C.J. and Didonato, C.J. (2012) Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensorymotor defects are a consequence, not a cause, of motor neuron dysfunction. J. Neurosci., 32, 3818-3829.
-
(2012)
J. Neurosci.
, vol.32
, pp. 3818-3829
-
-
Gogliotti, R.G.1
Quinlan, K.A.2
Barlow, C.B.3
Heier, C.R.4
Heckman, C.J.5
Didonato, C.J.6
-
30
-
-
84866934033
-
Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy
-
Lee, A.J., Awano, T., Park, G.H. and Monani, U.R. (2012) Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One, 7, e46353.
-
(2012)
PLoS One
, vol.7
, pp. e46353
-
-
Lee, A.J.1
Awano, T.2
Park, G.H.3
Monani, U.R.4
-
31
-
-
84884586357
-
Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy
-
Taylor, A.S., Glascock, J.J., Rose, F.F., Lutz, C. and Lorson, C.L. (2013) Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy. Transgenic Res., 22, 1029-1036.
-
(2013)
Transgenic Res.
, vol.22
, pp. 1029-1036
-
-
Taylor, A.S.1
Glascock, J.J.2
Rose, F.F.3
Lutz, C.4
Lorson, C.L.5
-
32
-
-
0034701295
-
Nuclear targeting defect of SMNlacking the C-terminus in amousemodel of spinal muscular atrophy
-
Frugier, T., Tiziano, F.D., Cifuentes-Diaz, C., Miniou, P., Roblot, N., Dierich, A., LeMeur,M. and Melki, J. (2000) Nuclear targeting defect of SMNlacking the C-terminus in amousemodel of spinal muscular atrophy. Hum. Mol. Genet., 9, 849-858.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 849-858
-
-
Frugier, T.1
Tiziano, F.D.2
Cifuentes-Diaz, C.3
Miniou, P.4
Roblot, N.5
Dierich, A.6
LeMeur, M.7
Melki, J.8
-
33
-
-
20144385587
-
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
-
Le, T.T., Pham, L.T., Butchbach, M.E., Zhang, H.L., Monani, U.R., Coovert, D.D., Gavrilina, T.O., Xing, L., Bassell, G.J. and Burghes, A.H. (2005) SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum. Mol. Genet., 14, 845-857.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 845-857
-
-
Le, T.T.1
Pham, L.T.2
Butchbach, M.E.3
Zhang, H.L.4
Monani, U.R.5
Coovert, D.D.6
Gavrilina, T.O.7
Xing, L.8
Bassell, G.J.9
Burghes, A.H.10
-
34
-
-
0035809926
-
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
-
Cifuentes-Diaz, C., Frugier, T., Tiziano, F.D., Lacene, E., Roblot, N., Joshi, V., Moreau, M.H. and Melki, J. (2001) Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J. Cell Biol., 152, 1107-1114.
-
(2001)
J. Cell Biol.
, vol.152
, pp. 1107-1114
-
-
Cifuentes-Diaz, C.1
Frugier, T.2
Tiziano, F.D.3
Lacene, E.4
Roblot, N.5
Joshi, V.6
Moreau, M.H.7
Melki, J.8
-
35
-
-
7244219856
-
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload
-
Vitte, J.M., Davoult, B., Roblot, N., Mayer, M., Joshi, V., Courageot, S., Tronche, F., Vadrot, J., Moreau, M.H., Kemeny, F. et al. (2004) Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am. J. Pathol., 165, 1731-1741.
-
(2004)
Am. J. Pathol.
, vol.165
, pp. 1731-1741
-
-
Vitte, J.M.1
Davoult, B.2
Roblot, N.3
Mayer, M.4
Joshi, V.5
Courageot, S.6
Tronche, F.7
Vadrot, J.8
Moreau, M.H.9
Kemeny, F.10
-
36
-
-
2142746976
-
Unidirectional Cre-mediated genetic inversion in mice using the mutant loxP pair lox66/lox71
-
Oberdoerffer, P., Otipoby, K.L., Maruyama, M. and Rajewsky, K. (2003) Unidirectional Cre-mediated genetic inversion in mice using the mutant loxP pair lox66/lox71. Nucleic Acids Res., 31, e140.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. e140
-
-
Oberdoerffer, P.1
Otipoby, K.L.2
Maruyama, M.3
Rajewsky, K.4
-
37
-
-
0030931720
-
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., Gotz, R., Gunnersen, J.M., Ure, J.M., Toyka, K.V., Smith, A.G. and Sendtner, M. (1997) 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, 94, 9920-9925.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
Gotz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
Sendtner, M.7
-
38
-
-
84943767619
-
Low levels of Survival Motor Neuron protein is sufficient for normal muscle function in the SMNΔ7 mouse model of SMA
-
in press
-
Iyer, C.C., McGovern, V.L., Murray, J.D., Janssen, P.M.L. and Burghes, A.H.M. (2015) Low levels of Survival Motor Neuron protein is sufficient for normal muscle function in the SMNΔ7 mouse model of SMA. Hum. Mol. Genet., in press. doi: 10.1093/hmg/ddv332
-
(2015)
Hum. Mol. Genet
-
-
Iyer, C.C.1
McGovern, V.L.2
Murray, J.D.3
Janssen, P.M.L.4
Burghes, A.H.M.5
-
39
-
-
4043070783
-
Efficient gene modulation in mouse epiblast using a Sox2Cre transgenic mouse strain
-
Hayashi, S., Lewis, P., Pevny, L. and McMahon, A.P. (2002) Efficient gene modulation in mouse epiblast using a Sox2Cre transgenic mouse strain. Mech. Dev., 119 Suppl 1, S97-S101.
-
(2002)
Mech. Dev.
, vol.119
, pp. S97-S101
-
-
Hayashi, S.1
Lewis, P.2
Pevny, L.3
McMahon, A.P.4
-
40
-
-
0032842478
-
Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety
-
Tronche, F., Kellendonk, C., Kretz, O., Gass, P., Anlag, K., Orban, P.C., Bock, R., Klein, R. and Schutz, G. (1999) Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nat. Genet., 23, 99-103.
-
(1999)
Nat. Genet.
, vol.23
, pp. 99-103
-
-
Tronche, F.1
Kellendonk, C.2
Kretz, O.3
Gass, P.4
Anlag, K.5
Orban, P.C.6
Bock, R.7
Klein, R.8
Schutz, G.9
-
41
-
-
33845742356
-
BAC transgenicmice express enhanced green fluorescent protein in central and peripheral cholinergic neurons
-
Tallini, Y.N., Shui, B., Greene, K.S., Deng, K.Y., Doran, R., Fisher, P.J., Zipfel,W. and Kotlikoff, M.I. (2006) BAC transgenicmice express enhanced green fluorescent protein in central and peripheral cholinergic neurons. Physiol. Genomics, 27, 391-397.
-
(2006)
Physiol. Genomics
, vol.27
, pp. 391-397
-
-
Tallini, Y.N.1
Shui, B.2
Greene, K.S.3
Deng, K.Y.4
Doran, R.5
Fisher, P.J.6
Zipfel, W.7
Kotlikoff, M.I.8
-
42
-
-
70449685575
-
Characterization of transgenic mouse lines expressing Cre recombinase in the retina
-
Ivanova, E., Hwang, G.S. and Pan, Z.H. (2010) Characterization of transgenic mouse lines expressing Cre recombinase in the retina. Neuroscience, 165, 233-243.
-
(2010)
Neuroscience
, vol.165
, pp. 233-243
-
-
Ivanova, E.1
Hwang, G.S.2
Pan, Z.H.3
-
43
-
-
0026326186
-
Characterization of tissue-specific transcription by the human synapsin I gene promoter
-
Thiel, G., Greengard, P. and Südhof, T.C. (1991) Characterization of tissue-specific transcription by the human synapsin I gene promoter. Proc. Natl. Acad. Sci. USA, 88, 3431-3435.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 3431-3435
-
-
Thiel, G.1
Greengard, P.2
Südhof, T.C.3
-
44
-
-
0035312367
-
Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain
-
Zhu, Y., Romero, M.I., Ghosh, P., Ye, Z., Charnay, P., Rushing, E.J., Marth, J.D. and Parada, L.F. (2001) Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes. Dev., 15, 859-876.
-
(2001)
Genes. Dev.
, vol.15
, pp. 859-876
-
-
Zhu, Y.1
Romero, M.I.2
Ghosh, P.3
Ye, Z.4
Charnay, P.5
Rushing, E.J.6
Marth, J.D.7
Parada, L.F.8
-
45
-
-
80053128156
-
A resource of Cre driver lines for genetic targeting of GABAergic neurons in cerebral cortex
-
Taniguchi, H., He, M., Wu, P., Kim, S., Paik, R., Sugino, K., Kvitsiani, D., Kvitsani, D., Fu, Y., Lu, J. et al. (2011) A resource of Cre driver lines for genetic targeting of GABAergic neurons in cerebral cortex. Neuron, 71, 995-1013.
-
(2011)
Neuron
, vol.71
, pp. 995-1013
-
-
Taniguchi, H.1
He, M.2
Wu, P.3
Kim, S.4
Paik, R.5
Sugino, K.6
Kvitsiani, D.7
Kvitsani, D.8
Fu, Y.9
Lu, J.10
-
46
-
-
0034605356
-
Domain-restricted expression of two glutamic acid decarboxylase genes in midgestation mouse embryos
-
Katarova, Z., Sekerková, G., Prodan, S., Mugnaini, E. and Szabó, G. (2000) Domain-restricted expression of two glutamic acid decarboxylase genes in midgestation mouse embryos. J. Comp. Neurol., 424, 607-627.
-
(2000)
J. Comp. Neurol.
, vol.424
, pp. 607-627
-
-
Katarova, Z.1
Sekerková, G.2
Prodan, S.3
Mugnaini, E.4
Szabó, G.5
-
47
-
-
73949140059
-
A robust and high-throughput Cre reporting and characterization system for the whole mouse brain
-
Madisen, L., Zwingman, T.A., Sunkin, S.M., Oh, S.W., Zariwala, H.A., Gu, H., Ng, L.L., Palmiter, R.D., Hawrylycz, M.J., Jones, A.R. et al. (2010) A robust and high-throughput Cre reporting and characterization system for the whole mouse brain. Nat. Neurosci., 13, 133-140.
-
(2010)
Nat. Neurosci.
, vol.13
, pp. 133-140
-
-
Madisen, L.1
Zwingman, T.A.2
Sunkin, S.M.3
Oh, S.W.4
Zariwala, H.A.5
Gu, H.6
Ng, L.L.7
Palmiter, R.D.8
Hawrylycz, M.J.9
Jones, A.R.10
-
48
-
-
0033180516
-
Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
-
Arber, S., Han, B., Mendelsohn, M., Smith, M., Jessell, T.M. and Sockanathan, S. (1999) Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron, 23, 659-674.
-
(1999)
Neuron
, vol.23
, pp. 659-674
-
-
Arber, S.1
Han, B.2
Mendelsohn, M.3
Smith, M.4
Jessell, T.M.5
Sockanathan, S.6
-
49
-
-
13844315172
-
Locomotor-like rhythms in a genetically distinct cluster of interneurons in the mammalian spinal cord
-
Hinckley, C.A., Hartley, R., Wu, L., Todd, A. and Ziskind-Conhaim, L. (2005) Locomotor-like rhythms in a genetically distinct cluster of interneurons in the mammalian spinal cord. J. Neurophysiol., 93, 1439-1449.
-
(2005)
J. Neurophysiol.
, vol.93
, pp. 1439-1449
-
-
Hinckley, C.A.1
Hartley, R.2
Wu, L.3
Todd, A.4
Ziskind-Conhaim, L.5
-
50
-
-
74849087730
-
Gamma motor neurons express distinct genetic markers at birth and require muscle spindle-derived GDNF for postnatal survival
-
Shneider, N.A., Brown, M.N., Smith, C.A., Pickel, J. and Alvarez, F.J. (2009) Gamma motor neurons express distinct genetic markers at birth and require muscle spindle-derived GDNF for postnatal survival. Neural. Dev., 4, 42.
-
(2009)
Neural. Dev.
, vol.4
, pp. 42
-
-
Shneider, N.A.1
Brown, M.N.2
Smith, C.A.3
Pickel, J.4
Alvarez, F.J.5
-
51
-
-
84899093981
-
Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy
-
Iyer, C.C., McGovern, V.L.,Wise, D.O., Glass, D.J. and Burghes, A.H. (2014) Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy. Neuromuscul. Disord., 24, 436-444.
-
(2014)
Neuromuscul. Disord.
, vol.24
, pp. 436-444
-
-
Iyer, C.C.1
McGovern, V.L.2
Wise, D.O.3
Glass, D.J.4
Burghes, A.H.5
-
52
-
-
84861925555
-
Pervasive synaptic branch removal in the mammalian neuromuscular system at birth
-
Tapia, J.C., Wylie, J.D., Kasthuri, N., Hayworth, K.J., Schalek, R., Berger, D.R., Guatimosim, C., Seung, H.S. and Lichtman, J.W. (2012) Pervasive synaptic branch removal in the mammalian neuromuscular system at birth. Neuron, 74, 816-829.
-
(2012)
Neuron
, vol.74
, pp. 816-829
-
-
Tapia, J.C.1
Wylie, J.D.2
Kasthuri, N.3
Hayworth, K.J.4
Schalek, R.5
Berger, D.R.6
Guatimosim, C.7
Seung, H.S.8
Lichtman, J.W.9
-
53
-
-
84908604715
-
Electrophysiological biomarkers in spinal muscular atrophy: preclinical proof of concept
-
Arnold, W.D., Porensky, P.N., McGovern, V.L., Iyer, C.C., Duque, S., Li, X., Meyer, K., Schmelzer, L., Kaspar, B.K., Kolb, S.J. et al. (2014) Electrophysiological biomarkers in spinal muscular atrophy: preclinical proof of concept. Ann. Clin. Transl. Neurol., 1, 34-44.
-
(2014)
Ann. Clin. Transl. Neurol.
, vol.1
, pp. 34-44
-
-
Arnold, W.D.1
Porensky, P.N.2
McGovern, V.L.3
Iyer, C.C.4
Duque, S.5
Li, X.6
Meyer, K.7
Schmelzer, L.8
Kaspar, B.K.9
Kolb, S.J.10
-
54
-
-
84865318360
-
Fibrillation potential onset in peripheral nerve injury
-
Willmott, A.D., White, C. and Dukelow, S.P. (2012) Fibrillation potential onset in peripheral nerve injury. Muscle Nerve, 46, 332-340.
-
(2012)
Muscle Nerve
, vol.46
, pp. 332-340
-
-
Willmott, A.D.1
White, C.2
Dukelow, S.P.3
-
55
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre, S., Burlet, P., Liu, Q., Bertrandy, S., Clermont, O., Munnich, A., Dreyfuss, G. and Melki, J. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet., 16, 265-269.
-
(1997)
Nat. Genet.
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
56
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert, D.D., Le, T.T., McAndrew, P.E., Strasswimmer, J., Crawford, T.O., Mendell, J.R., Coulson, S.E., Androphy, E.J., Prior, T.W. and Burghes, A.H. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet., 6, 1205-1214.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.10
-
57
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson, C.L., Hahnen, E., Androphy, E.J. andWirth, B. (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA, 96, 6307-6311.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy E.J.andWirth, B.3
-
58
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani, U.R., Lorson, C.L., Parsons, D.W., Prior, T.W., Androphy, E.J., Burghes, A.H. and McPherson, J.D. (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet., 8, 1177-1183.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
McPherson, J.D.7
-
59
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
-
McAndrew, P.E., Parsons, D.W., Simard, L.R., Rochette, C., Ray, P.N., Mendell, J.R., Prior, T.W. and Burghes, A.H. (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet., 60, 1411-1422.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
Prior, T.W.7
Burghes, A.H.8
-
60
-
-
69449103716
-
A positive modifier of spinal muscular atrophy in the SMN2 gene
-
Prior, T.W., Krainer, A.R., Hua, Y., Swoboda, K.J., Snyder, P.C., Bridgeman, S.J., Burghes, A.H. and Kissel, J.T. (2009) A positive modifier of spinal muscular atrophy in the SMN2 gene. Am. J. Hum. Genet., 85, 408-413.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 408-413
-
-
Prior, T.W.1
Krainer, A.R.2
Hua, Y.3
Swoboda, K.J.4
Snyder, P.C.5
Bridgeman, S.J.6
Burghes, A.H.7
Kissel, J.T.8
-
61
-
-
77956105943
-
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
-
Bernal, S., Alias, L., Barcelo, M.J., Also-Rallo, E., Martinez-Hernandez, R., Gamez, J., Guillen-Navarro, E., Rosell, J., Hernando, I., Rodriguez-Alvarez, F.J. et al. (2010) The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J. Med. Genet., 47, 640-642.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 640-642
-
-
Bernal, S.1
Alias, L.2
Barcelo, M.J.3
Also-Rallo, E.4
Martinez-Hernandez, R.5
Gamez, J.6
Guillen-Navarro, E.7
Rosell, J.8
Hernando, I.9
Rodriguez-Alvarez, F.J.10
-
62
-
-
18244407748
-
Natural history of denervation in SMA: relation to age, SMN2 copy number, and function
-
Swoboda, K.J., Prior, T.W., Scott, C.B., McNaught, T.P.,Wride, M.C., Reyna, S.P. and Bromberg, M.B. (2005) Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann. Neurol., 57, 704-712.
-
(2005)
Ann. Neurol.
, vol.57
, pp. 704-712
-
-
Swoboda, K.J.1
Prior, T.W.2
Scott, C.B.3
McNaught, T.P.4
Wride, M.C.5
Reyna, S.P.6
Bromberg, M.B.7
-
63
-
-
0022530530
-
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy
-
Hausmanowa-Petrusewicz, I. and Karwanska, A. (1986) Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. Muscle Nerve, 9, 37-46.
-
(1986)
Muscle Nerve
, vol.9
, pp. 37-46
-
-
Hausmanowa-Petrusewicz, I.1
Karwanska, A.2
-
64
-
-
58849103600
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
-
Kong, L., Wang, X., Choe, D.W., Polley, M., Burnett, B.G., Bosch-Marce, M., Griffin, J.W., Rich, M.M. and Sumner, C.J. (2009) Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J. Neurosci., 29, 842-851.
-
(2009)
J. Neurosci.
, vol.29
, pp. 842-851
-
-
Kong, L.1
Wang, X.2
Choe, D.W.3
Polley, M.4
Burnett, B.G.5
Bosch-Marce, M.6
Griffin, J.W.7
Rich, M.M.8
Sumner, C.J.9
-
65
-
-
84890898281
-
Spinal muscular atrophy:development and implementation of potential treatments
-
Arnold,W.D. and Burghes, A.H. (2013) Spinal muscular atrophy:development and implementation of potential treatments. Ann. Neurol., 74, 348-362.
-
(2013)
Ann. Neurol.
, vol.74
, pp. 348-362
-
-
Arnold, W.D.1
Burghes, A.H.2
-
66
-
-
77954103716
-
Compound muscle action potential and motor function in children with spinal muscular atrophy
-
Lewelt, A., Krosschell, K.J., Scott, C., Sakonju, A., Kissel, J.T., Crawford, T.O., Acsadi, G., D'Anjou, G., Elsheikh, B., Reyna, S.P. et al. (2010) Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve, 42, 703-708.
-
(2010)
Muscle Nerve
, vol.42
, pp. 703-708
-
-
Lewelt, A.1
Krosschell, K.J.2
Scott, C.3
Sakonju, A.4
Kissel, J.T.5
Crawford, T.O.6
Acsadi, G.7
D'Anjou, G.8
Elsheikh, B.9
Reyna, S.P.10
-
67
-
-
84901452375
-
The motor neuron response to SMN1 deficiency in spinal muscular atrophy
-
Kang, P.B., Gooch, C.L., McDermott, M.P., Darras, B.T., Finkel, R.S., Yang, M.L., Sproule, D.M., Chung, W.K., Kaufmann, P. and de Vivo, D.C. (2014) The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve, 49, 636-644.
-
(2014)
Muscle Nerve
, vol.49
, pp. 636-644
-
-
Kang, P.B.1
Gooch, C.L.2
McDermott, M.P.3
Darras, B.T.4
Finkel, R.S.5
Yang, M.L.6
Sproule, D.M.7
Chung, W.K.8
Kaufmann, P.9
de Vivo, D.C.10
-
68
-
-
84871313487
-
Prospective cohort study of spinal muscular atrophy types 2 and 3
-
Kaufmann, P., McDermott, M.P., Darras, B.T., Finkel, R.S., Sproule, D.M., Kang, P.B., Oskoui, M., Constantinescu, A., Gooch, C.L., Foley, A.R. et al. (2012) Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology, 79, 1889-1897.
-
(2012)
Neurology
, vol.79
, pp. 1889-1897
-
-
Kaufmann, P.1
McDermott, M.P.2
Darras, B.T.3
Finkel, R.S.4
Sproule, D.M.5
Kang, P.B.6
Oskoui, M.7
Constantinescu, A.8
Gooch, C.L.9
Foley, A.R.10
-
69
-
-
84923771867
-
A large animal model of Spinal Muscular Atrophy and correction of phenotype
-
Duque, S.I., Arnold,W.D., Odermatt, P., Li, X., Porensky, P.N., Schmelzer, L., Meyer, K., Kolb, S.J., Schümperli, D., Kaspar, B. K. et al. (2015) A large animal model of Spinal Muscular Atrophy and correction of phenotype. Ann. Neurol., 3, 399-414.
-
(2015)
Ann. Neurol.
, vol.3
, pp. 399-414
-
-
Duque, S.I.1
Arnold, W.D.2
Odermatt, P.3
Li, X.4
Porensky, P.N.5
Schmelzer, L.6
Meyer, K.7
Kolb, S.J.8
Schümperli, D.9
Kaspar, B.K.10
-
70
-
-
77957741150
-
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
-
Bevan, A.K., Hutchinson, K.R., Foust, K.D., Braun, L., McGovern, V.L., Schmelzer, L., Ward, J.G., Petruska, J.C., Lucchesi, P.A., Burghes, A.H. et al. (2010) Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum. Mol. Genet., 19, 3895-3905.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3895-3905
-
-
Bevan, A.K.1
Hutchinson, K.R.2
Foust, K.D.3
Braun, L.4
McGovern, V.L.5
Schmelzer, L.6
Ward, J.G.7
Petruska, J.C.8
Lucchesi, P.A.9
Burghes, A.H.10
-
71
-
-
77957735974
-
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
-
Heier, C.R., Satta, R., Lutz, C. and DiDonato, C.J. (2010) Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum. Mol. Genet., 19, 3906-3918.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3906-3918
-
-
Heier, C.R.1
Satta, R.2
Lutz, C.3
DiDonato, C.J.4
-
72
-
-
77957729453
-
Cardiac defects contribute to the pathology of spinal muscular atrophy models
-
Shababi, M., Habibi, J., Yang, H.T., Vale, S.M., Sewell, W.A. and Lorson, C.L. (2010) Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum. Mol. Genet., 19, 4059-4071.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4059-4071
-
-
Shababi, M.1
Habibi, J.2
Yang, H.T.3
Vale, S.M.4
Sewell, W.A.5
Lorson, C.L.6
-
73
-
-
84921367678
-
Spinal muscular atrophy: from tissue specificity to therapeutic strategies
-
Iascone, D.M., Henderson, C.E. and Lee, J.C. (2015) Spinal muscular atrophy: from tissue specificity to therapeutic strategies. F1000Prime Rep., 7, 04.
-
(2015)
F1000Prime Rep.
, vol.7
, pp. 04
-
-
Iascone, D.M.1
Henderson, C.E.2
Lee, J.C.3
-
74
-
-
84920266970
-
Spectrum of neuropathophysiology in spinal muscular atrophy type I
-
Harding, B.N., Kariya, S., Monani, U.R., Chung,W.K., Benton, M., Yum, S.W., Tennekoon, G. and Finkel, R.S. (2015) Spectrum of neuropathophysiology in spinal muscular atrophy type I. J. Neuropathol. Exp. Neurol., 74, 15-24.
-
(2015)
J. Neuropathol. Exp. Neurol.
, vol.74
, pp. 15-24
-
-
Harding, B.N.1
Kariya, S.2
Monani, U.R.3
Chung, W.K.4
Benton, M.5
Yum, S.W.6
Tennekoon, G.7
Finkel, R.S.8
-
75
-
-
29144463310
-
Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease
-
Monani, U.R. (2005) Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron, 48, 885-896.
-
(2005)
Neuron
, vol.48
, pp. 885-896
-
-
Monani, U.R.1
-
76
-
-
84871718500
-
Spinal muscular atrophy: going beyond the motor neuron
-
Hamilton, G. and Gillingwater, T.H. (2013) Spinal muscular atrophy: going beyond the motor neuron. Trends. Mol. Med., 19, 40-50.
-
(2013)
Trends. Mol. Med.
, vol.19
, pp. 40-50
-
-
Hamilton, G.1
Gillingwater, T.H.2
-
77
-
-
84890131445
-
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
-
Shababi, M., Lorson, C.L. and Rudnik-Schoneborn, S.S. (2014) Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J. Anat., 224, 15-28.
-
(2014)
J. Anat.
, vol.224
, pp. 15-28
-
-
Shababi, M.1
Lorson, C.L.2
Rudnik-Schoneborn, S.S.3
-
78
-
-
84885922032
-
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585
-
Schreml, J., Riessland, M., Paterno, M., Garbes, L., Rosbach, K., Ackermann, B., Kramer, J., Somers, E., Parson, S.H., Heller, R. et al. (2013) Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur. J. Hum. Genet., 21, 643-652.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 643-652
-
-
Schreml, J.1
Riessland, M.2
Paterno, M.3
Garbes, L.4
Rosbach, K.5
Ackermann, B.6
Kramer, J.7
Somers, E.8
Parson, S.H.9
Heller, R.10
-
79
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li, H.M., Chang, J.G., Jong, Y.J., Wu, M.H., Wang, N.M., Tsai, C.H. and Li, H. (2000) A mouse model for spinal muscular atrophy. Nat. Genet., 24, 66-70.
-
(2000)
Nat. Genet.
, vol.24
, pp. 66-70
-
-
Hsieh-Li, H.M.1
Chang, J.G.2
Jong, Y.J.3
Wu, M.H.4
Wang, N.M.5
Tsai, C.H.6
Li, H.7
-
80
-
-
84936745981
-
SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice
-
Gombash, S., Cowley, C., Fitzgerald, J., Iyer, C.C., Fried, D., McGovern, V., Williams, K., Burghes, A., Christofi, F., Gulbransen, B.D. and Foust, K. (2015) SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice. Hum. Mol. Genet., 13, 3847-3860.
-
(2015)
Hum. Mol. Genet.
, vol.13
, pp. 3847-3860
-
-
Gombash, S.1
Cowley, C.2
Fitzgerald, J.3
Iyer, C.C.4
Fried, D.5
McGovern, V.6
Williams, K.7
Burghes, A.8
Christofi, F.9
Gulbransen, B.D.10
Foust, K.11
-
81
-
-
77954132733
-
Digital necroses and vascular thrombosis in severe spinal muscular atrophy
-
Rudnik-Schoneborn, S., Vogelgesang, S., Armbrust, S., Graul-Neumann, L., Fusch, C. and Zerres, K. (2010) Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve, 42, 144-147.
-
(2010)
Muscle Nerve
, vol.42
, pp. 144-147
-
-
Rudnik-Schoneborn, S.1
Vogelgesang, S.2
Armbrust, S.3
Graul-Neumann, L.4
Fusch, C.5
Zerres, K.6
-
82
-
-
54049121013
-
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
-
Rudnik-Schoneborn, S., Heller, R., Berg, C., Betzler, C., Grimm, T., Eggermann, T., Eggermann, K., Wirth, R., Wirth, B. and Zerres, K. (2008) Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J. Med. Genet., 45, 635-638.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 635-638
-
-
Rudnik-Schoneborn, S.1
Heller, R.2
Berg, C.3
Betzler, C.4
Grimm, T.5
Eggermann, T.6
Eggermann, K.7
Wirth, R.8
Wirth, B.9
Zerres, K.10
-
83
-
-
0028398108
-
Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood
-
Distefano, G., Sciacca, P., Parisi, M.G., Parano, E., Smilari, P., Marletta, M. and Fiumara, A. (1994) Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood. Pediatr. Med. Chir., 16, 125-128.
-
(1994)
Pediatr. Med. Chir.
, vol.16
, pp. 125-128
-
-
Distefano, G.1
Sciacca, P.2
Parisi, M.G.3
Parano, E.4
Smilari, P.5
Marletta, M.6
Fiumara, A.7
-
84
-
-
84858072544
-
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
-
Bowerman, M., Murray, L.M., Beauvais, A., Pinheiro, B. and Kothary, R. (2012) A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul. Disord., 22, 263-276.
-
(2012)
Neuromuscul. Disord.
, vol.22
, pp. 263-276
-
-
Bowerman, M.1
Murray, L.M.2
Beauvais, A.3
Pinheiro, B.4
Kothary, R.5
-
85
-
-
31144436681
-
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy
-
Arai, H., Tanabe, Y., Hachiya, Y., Otsuka, E., Kumada, S., Furushima, W., Kohyama, J., Yamashita, S., Takanashi, J. and Kohno, Y. (2005) Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy. J. Child Neurol., 20, 871-875.
-
(2005)
J. Child Neurol.
, vol.20
, pp. 871-875
-
-
Arai, H.1
Tanabe, Y.2
Hachiya, Y.3
Otsuka, E.4
Kumada, S.5
Furushima, W.6
Kohyama, J.7
Yamashita, S.8
Takanashi, J.9
Kohno, Y.10
-
86
-
-
84961290469
-
Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
-
Hua, Y., Liu, Y.H., Sahashi, K., Rigo, F., Bennett, C.F. and Krainer, A.R. (2015) Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev., 29, 288-297.
-
(2015)
Genes Dev.
, vol.29
, pp. 288-297
-
-
Hua, Y.1
Liu, Y.H.2
Sahashi, K.3
Rigo, F.4
Bennett, C.F.5
Krainer, A.R.6
-
87
-
-
80455173951
-
Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders
-
Bevan, A.K., Duque, S., Foust, K.D., Morales, P.R., Braun, L., Schmelzer, L., Chan, C.M., McCrate, M., Chicoine, L.G., Coley, B.D. et al. (2011) Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol. Ther., 19, 1971-1980.
-
(2011)
Mol. Ther.
, vol.19
, pp. 1971-1980
-
-
Bevan, A.K.1
Duque, S.2
Foust, K.D.3
Morales, P.R.4
Braun, L.5
Schmelzer, L.6
Chan, C.M.7
McCrate, M.8
Chicoine, L.G.9
Coley, B.D.10
-
88
-
-
83455213467
-
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
-
Ling, K.K., Gibbs, R.M., Feng, Z. and Ko, C.P. (2012) Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum. Mol. Genet., 21, 185-195.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 185-195
-
-
Ling, K.K.1
Gibbs, R.M.2
Feng, Z.3
Ko, C.P.4
-
89
-
-
79551663958
-
Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy
-
Mentis, G.Z., Blivis, D., Liu, W., Drobac, E., Crowder, M.E., Kong, L., Alvarez, F.J., Sumner, C.J. and O'Donovan, M.J. (2011) Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron, 69, 453-467.
-
(2011)
Neuron
, vol.69
, pp. 453-467
-
-
Mentis, G.Z.1
Blivis, D.2
Liu, W.3
Drobac, E.4
Crowder, M.E.5
Kong, L.6
Alvarez, F.J.7
Sumner, C.J.8
O'Donovan, M.J.9
-
90
-
-
77953893282
-
Spinal muscular atrophy: mechanisms and therapeutic strategies
-
Lorson, C.L., Rindt, H. and Shababi, M. (2010) Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum. Mol. Genet., 19, R111-R118.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. R111-R118
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
91
-
-
84880836806
-
Spinal muscular atrophy astrocytes exhibit abnormal calciumregulation and reduced growth factor production
-
McGivern, J.V., Patitucci, T.N., Nord, J.A., Barabas, M.E., Stucky, C.L. and Ebert, A.D. (2013) Spinal muscular atrophy astrocytes exhibit abnormal calciumregulation and reduced growth factor production. Glia, 61, 1418-1428.
-
(2013)
Glia
, vol.61
, pp. 1418-1428
-
-
McGivern, J.V.1
Patitucci, T.N.2
Nord, J.A.3
Barabas, M.E.4
Stucky, C.L.5
Ebert, A.D.6
-
92
-
-
84904464793
-
SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease
-
Li, D.K., Tisdale, S., Lotti, F. and Pellizzoni, L. (2014) SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease. Semin. Cell Dev. Biol., 32, 22-29.
-
(2014)
Semin. Cell Dev. Biol.
, vol.32
, pp. 22-29
-
-
Li, D.K.1
Tisdale, S.2
Lotti, F.3
Pellizzoni, L.4
-
93
-
-
78651094423
-
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
-
Hubers, L., Valderrama-Carvajal, H., Laframboise, J., Timbers, J., Sanchez, G. and Cote, J. (2011) HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. Hum. Mol. Genet., 20, 553-579.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 553-579
-
-
Hubers, L.1
Valderrama-Carvajal, H.2
Laframboise, J.3
Timbers, J.4
Sanchez, G.5
Cote, J.6
-
94
-
-
74249094999
-
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy
-
Baumer, D., Lee, S., Nicholson, G., Davies, J.L., Parkinson, N.J., Murray, L.M., Gillingwater, T.H., Ansorge, O., Davies, K.E. and Talbot, K. (2009) Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet., 5, e1000773.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000773
-
-
Baumer, D.1
Lee, S.2
Nicholson, G.3
Davies, J.L.4
Parkinson, N.J.5
Murray, L.M.6
Gillingwater, T.H.7
Ansorge, O.8
Davies, K.E.9
Talbot, K.10
-
95
-
-
84888375636
-
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
-
Zhang, Z., Pinto, A.M.,Wan, L.,Wang,W., Berg, M.G., Oliva, I., Singh, L.N., Dengler, C., Wei, Z. and Dreyfuss, G. (2013) Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc. Natl. Acad. Sci. USA, 110, 19348-19353.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 19348-19353
-
-
Zhang, Z.1
Pinto, A.M.2
Wan, L.3
Wang, W.4
Berg, M.G.5
Oliva, I.6
Singh, L.N.7
Dengler, C.8
Wei, Z.9
Dreyfuss, G.10
-
96
-
-
84988302662
-
Species-specific exon loss in human transcriptomes
-
Wang, J., Lu, Z.X., Tokheim, C.J., Miller, S.E. and Xing, Y. (2015) Species-specific exon loss in human transcriptomes. Mol. Biol. Evol., 32, 481-494.
-
(2015)
Mol. Biol. Evol.
, vol.32
, pp. 481-494
-
-
Wang, J.1
Lu, Z.X.2
Tokheim, C.J.3
Miller, S.E.4
Xing, Y.5
-
97
-
-
84925287013
-
Differential evolution of signal-responsive RNA elements and upstream factors that control alternative splicing
-
Xie, J. (2014) Differential evolution of signal-responsive RNA elements and upstream factors that control alternative splicing. Cell Mol. Life Sci., 71, 4347-4360.
-
(2014)
Cell Mol. Life Sci.
, vol.71
, pp. 4347-4360
-
-
Xie, J.1
-
98
-
-
0037434632
-
The genomic organization of mouse resistin reveals major differences from the human resistin:functional implications
-
Ghosh, S., Singh, A.K., Aruna, B., Mukhopadhyay, S. and Ehtesham, N.Z. (2003) The genomic organization of mouse resistin reveals major differences from the human resistin:functional implications. Gene, 305, 27-34.
-
(2003)
Gene
, vol.305
, pp. 27-34
-
-
Ghosh, S.1
Singh, A.K.2
Aruna, B.3
Mukhopadhyay, S.4
Ehtesham, N.Z.5
-
99
-
-
84891944344
-
Germ-line recombination activity of the widely used hGFAPCre and nestin-Cre transgenes
-
Zhang, J.,Dublin, P.,Griemsmann, S.,Klein,A., Brehm, R., Bedner, P., Fleischmann, B.K., Steinhauser, C. and Theis, M. (2013) Germ-line recombination activity of the widely used hGFAPCre and nestin-Cre transgenes. PLoS One, 8, e82818.
-
(2013)
PLoS One
, vol.8
, pp. e82818
-
-
Zhang, J.1
Dublin, P.2
Griemsmann, S.3
Klein, A.4
Brehm, R.5
Bedner, P.6
Fleischmann, B.K.7
Steinhauser, C.8
Theis, M.9
-
100
-
-
34447642872
-
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy
-
Butchbach, M.E., Edwards, J.D. and Burghes, A.H. (2007) Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol. Dis., 27, 207-219.
-
(2007)
Neurobiol. Dis.
, vol.27
, pp. 207-219
-
-
Butchbach, M.E.1
Edwards, J.D.2
Burghes, A.H.3
-
101
-
-
0002440928
-
Molecular Cloning
-
2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook, J., Fritsch, E.F. and Maniatis, T. (1987) Molecular Cloning. A Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, pp. E.1-E.2.
-
(1987)
A Laboratory Manual
, pp. E.1-E.2
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
102
-
-
26444545103
-
Conditional and inducible transgene expression in mice through the combinatorial use of Cre-mediated recombination and tetracycline induction
-
Belteki, G., Haigh, J., Kabacs, N., Haigh, K., Sison, K., Costantini, F., Whitsett, J., Quaggin, S.E. and Nagy, A. (2005) Conditional and inducible transgene expression in mice through the combinatorial use of Cre-mediated recombination and tetracycline induction. Nucleic Acids Res., 33, e51.
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. e51
-
-
Belteki, G.1
Haigh, J.2
Kabacs, N.3
Haigh, K.4
Sison, K.5
Costantini, F.6
Whitsett, J.7
Quaggin, S.E.8
Nagy, A.9
-
103
-
-
3242808940
-
Leishmaniasis host response loci (lmr1-3) modify disease severity through a Th1/Th2-independent pathway
-
Elso, C.M., Roberts, L.J., Smyth, G.K., Thomson, R.J., Baldwin, T.M., Foote, S.J. and Handman, E. (2004) Leishmaniasis host response loci (lmr1-3) modify disease severity through a Th1/Th2-independent pathway. Genes. Immun., 5, 93-100.
-
(2004)
Genes. Immun.
, vol.5
, pp. 93-100
-
-
Elso, C.M.1
Roberts, L.J.2
Smyth, G.K.3
Thomson, R.J.4
Baldwin, T.M.5
Foote, S.J.6
Handman, E.7
-
104
-
-
34648843264
-
Wound healing response is a major contributor to the severity of cutaneous leishmaniasis in the ear model of infection
-
Baldwin, T., Sakthianandeswaren, A., Curtis, J.M., Kumar, B., Smyth, G.K., Foote, S.J. and Handman, E. (2007) Wound healing response is a major contributor to the severity of cutaneous leishmaniasis in the ear model of infection. Parasite. Immunol., 29, 501-513.
-
(2007)
Parasite. Immunol.
, vol.29
, pp. 501-513
-
-
Baldwin, T.1
Sakthianandeswaren, A.2
Curtis, J.M.3
Kumar, B.4
Smyth, G.K.5
Foote, S.J.6
Handman, E.7
|