-
1
-
-
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
-
2
-
-
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. Gen., 60, 1411-1422.
-
(1997)
Am. J. Hum. Gen.
, 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
-
3
-
-
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
-
4
-
-
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
-
5
-
-
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. and Wirth, 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.3
Wirth, B.4
-
6
-
-
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
-
7
-
-
0035976992
-
Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3 ′ splice site pairing
-
Lim, S.R. and Hertel, K.J. (2001) Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3 ′ splice site pairing. J. Bio. Chem., 276, 45476-45483.
-
(2001)
J. Bio. Chem.
, vol.276
, pp. 45476-45483
-
-
Lim, S.R.1
Hertel, K.J.2
-
8
-
-
3342938228
-
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
-
Singh, N.N., Androphy, E.J. and Singh, R.N. (2004) In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA, 10, 1291-1305.
-
(2004)
RNA
, vol.10
, pp. 1291-1305
-
-
Singh, N.N.1
Androphy, E.J.2
Singh, R.N.3
-
9
-
-
29244490598
-
Determinants of exon 7 splicing in the spinal muscular atrophy genes SMN1 and SMN2
-
Cartegni, L., Hastings, M.L., Calarco, J.A., de Stanchina, E. and Krainer, A.R. (2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am. J. Hum. Genet., 78, 63-77.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 63-77
-
-
Cartegni, L.1
Hastings, M.L.2
Calarco, J.A.3
De Stanchina, E.4
Krainer, A.R.5
-
10
-
-
0036544654
-
Disruption of an SF2/ ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni, L. and Krainer, A.R. (2002) Disruption of an SF2/ ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet., 30, 377-384.
-
(2002)
Nat. Genet.
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
11
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima, T. and Manley, J.L. (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet., 34, 460-463.
-
(2003)
Nat. Genet.
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
12
-
-
36248987806
-
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
-
Kashima, T., Rao, N., David, C.J. and Manley, J.L. (2007) hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum. Mol. Genet., 16, 3149-3159.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 3149-3159
-
-
Kashima, T.1
Rao, N.2
David, C.J.3
Manley, J.L.4
-
13
-
-
77950524790
-
The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy
-
Pedrotti, S., Bielli, P., Paronetto, M.P., Ciccosanti, F., Fimia, G.M., Stamm, S., Manley, J.L. and Sette, C. (2010) The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J, 29, 1235-1247.
-
(2010)
EMBO J
, vol.29
, pp. 1235-1247
-
-
Pedrotti, S.1
Bielli, P.2
Paronetto, M.P.3
Ciccosanti, F.4
Fimia, G.M.5
Stamm, S.6
Manley, J.L.7
Sette, C.8
-
14
-
-
0034662922
-
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann, Y., Lorson, C.L., Stamm, S., Androphy, E.J. and Wirth, B. (2000) Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl Acad. Sci. USA, 97, 9618-9623.
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
15
-
-
0037101846
-
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
-
Hofmann, Y. and Wirth, B. (2002) hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum. Mol. Gen., 11, 2037-2049.
-
(2002)
Hum. Mol. Gen.
, vol.11
, pp. 2037-2049
-
-
Hofmann, Y.1
Wirth, B.2
-
16
-
-
0036501065
-
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1
-
Young, P.J., DiDonato, C.J., Hu, D., Kothary, R., Androphy, E.J. and Lorson, C.L. (2002) SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum. Mol. Genet., 11, 577-587.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 577-587
-
-
Young, P.J.1
DiDonato, C.J.2
Hu, D.3
Kothary, R.4
Androphy, E.J.5
Lorson, C.L.6
-
17
-
-
74049115526
-
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
-
Vezain, M., Saugier-Veber, P., Goina, E., Touraine, R., Manel, V., Toutain, A., Fehrenbach, S., Frebourg, T., Pagani, F., Tosi, M. et al. (2010) A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum. Mut., 31, E1110-E1125.
-
(2010)
Hum. Mut.
, vol.31
-
-
Vezain, M.1
Saugier-Veber, P.2
Goina, E.3
Touraine, R.4
Manel, V.5
Toutain, A.6
Fehrenbach, S.7
Frebourg, T.8
Pagani, F.9
Tosi, M.10
-
18
-
-
41549168514
-
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
-
Hua, Y., Vickers, T.A., Okunola, H.L., Bennett, C.F. and Krainer, A.R. (2008) Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am. J. Hum. Gen., 82, 834-848.
-
(2008)
Am. J. Hum. Gen.
, vol.82
, pp. 834-848
-
-
Hua, Y.1
Vickers, T.A.2
Okunola, H.L.3
Bennett, C.F.4
Krainer, A.R.5
-
19
-
-
32044445564
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
-
Singh, N.K., Singh, N.N., Androphy, E.J. and Singh, R.N. (2006) Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol. Cell. Biol., 26, 1333-1346.
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
20
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Hua, Y., Sahashi, K., Hung, G., Rigo, F., Passini, M.A., Bennett, C.F. and Krainer, A.R. (2010) Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev., 24, 1634-1644.
-
(2010)
Genes Dev
, vol.24
, pp. 1634-1644
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
Rigo, F.4
Passini, M.A.5
Bennett, C.F.6
Krainer, A.R.7
-
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
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
Passini, M.A., Bu, J., Roskelley, E.M., Richards, A.M., Sardi, S.P., O'Riordan, C.R., Klinger, K.W., Shihabuddin, L.S. and Cheng, S.H. (2010) CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J. Clin. Invest., 120, 1253-1264.
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 1253-1264
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
Richards, A.M.4
Sardi, S.P.5
O'Riordan, C.R.6
Klinger, K.W.7
Shihabuddin, L.S.8
Cheng, S.H.9
-
23
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
-
Pearn, J. (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet., 15, 409-413.
-
(1978)
J. Med. Genet.
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
24
-
-
33847665554
-
An intronic element contributes to splicing repression in spinal muscular atrophy
-
Kashima, T., Rao, N. and Manley, J.L. (2007) An intronic element contributes to splicing repression in spinal muscular atrophy. Proc. Natl Acad. Sci. USA, 104, 3426-3431.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 3426-3431
-
-
Kashima, T.1
Rao, N.2
Manley, J.L.3
-
25
-
-
43049168361
-
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
-
Zhang, Z., Lotti, F., Dittmar, K., Younis, I., Wan, L., Kasim, M. and Dreyfuss, G. (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell, 133, 585-600.
-
(2008)
Cell
, vol.133
, pp. 585-600
-
-
Zhang, Z.1
Lotti, F.2
Dittmar, K.3
Younis, I.4
Wan, L.5
Kasim, M.6
Dreyfuss, G.7
-
26
-
-
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
-
-
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
-
27
-
-
77957878494
-
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
-
Wishart, T.M., Huang, J.P., Murray, L.M., Lamont, D.J., Mutsaers, C.A., Ross, J., Geldsetzer, P., Ansorge, O., Talbot, K., Parson, S.H. et al. (2010) SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum. Mol. Genet., 19, 4216-4228.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4216-4228
-
-
Wishart, T.M.1
Huang, J.P.2
Murray, L.M.3
Lamont, D.J.4
Mutsaers, C.A.5
Ross, J.6
Geldsetzer, P.7
Ansorge, O.8
Talbot, K.9
Parson, S.H.10
-
28
-
-
0034978562
-
Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration
-
Oosthuyse, B., Moons, L., Storkebaum, E., Beck, H., Nuyens, D., Brusselmans, K., Van Dorpe, J., Hellings, P., Gorselink, M., Heymans, S. et al. (2001) Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat. Genet., 28, 131-138.
-
(2001)
Nat. Genet.
, vol.28
, pp. 131-138
-
-
Oosthuyse, B.1
Moons, L.2
Storkebaum, E.3
Beck, H.4
Nuyens, D.5
Brusselmans, K.6
Van Dorpe, J.7
Hellings, P.8
Gorselink, M.9
Heymans, S.10
-
29
-
-
77649186396
-
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
-
Michaud, M., Arnoux, T., Bielli, S., Durand, E., Rotrou, Y., Jablonka, S., Robert, F., Giraudon-Paoli, M., Riessland, M., Mattei, M.G. et al. (2010) Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol. Dis., 38, 125-135.
-
(2010)
Neurobiol. Dis.
, vol.38
, pp. 125-135
-
-
Michaud, M.1
Arnoux, T.2
Bielli, S.3
Durand, E.4
Rotrou, Y.5
Jablonka, S.6
Robert, F.7
Giraudon-Paoli, M.8
Riessland, M.9
Mattei, M.G.10
-
30
-
-
34247514920
-
Long-term survival in Werdnig-Hoffmann disease
-
Quiz 346-338, 379
-
Bach, J.R., Saltstein, K., Sinquee, D., Weaver, B. and Komaroff, E. (2007) Long-term survival in Werdnig-Hoffmann disease. Am. J. Phys. Med. Rehab., 86, 339-345, Quiz 346-338, 379.
-
(2007)
Am. J. Phys. Med. Rehab
, vol.86
, pp. 339-345
-
-
Bach, J.R.1
Saltstein, K.2
Sinquee, D.3
Weaver, B.4
Komaroff, E.5
-
31
-
-
39549121063
-
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
-
Brichta, L., Garbes, L., Jedrzejowska, M., Grellscheid, S.N., Holker, I., Zimmermann, K. and Wirth, B. (2008) Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum. Genet., 123, 141-153.
-
(2008)
Hum. Genet.
, vol.123
, pp. 141-153
-
-
Brichta, L.1
Garbes, L.2
Jedrzejowska, M.3
Grellscheid, S.N.4
Holker, I.5
Zimmermann, K.6
Wirth, B.7
-
32
-
-
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
-
33
-
-
78649461312
-
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene
-
Jodelka, F.M., Ebert, A.D., Duelli, D.M. and Hastings, M.L. (2010) A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. Hum. Mol. Genet., 19, 4906-4917.
-
(2010)
SMN2. Hum. Mol. Genet.
, vol.19
, pp. 4906-4917
-
-
Jodelka, F.M.1
Ebert, A.D.2
Duelli, D.M.3
Hastings, M.L.4
-
34
-
-
84863011418
-
A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy
-
Ruggiu, M., McGovern, V.L., Lotti, F., Saieva, L., Li, D.K., Kariya, S., Monani, U.R., Burghes, A.H. and Pellizzoni, L. (2012) A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol. Cell. Biol., 32, 126-138.
-
(2012)
Mol. Cell. Biol.
, vol.32
, pp. 126-138
-
-
Ruggiu, M.1
McGovern, V.L.2
Lotti, F.3
Saieva, L.4
Li, D.K.5
Kariya, S.6
Monani, U.R.7
Burghes, A.H.8
Pellizzoni, L.9
-
35
-
-
73949131374
-
Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy
-
Liu, H., Shafey, D., Moores, J.N. and Kothary, R. (2010) Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J. Neurosci. Res., 88, 111-122.
-
(2010)
J. Neurosci. Res.
, vol.88
, pp. 111-122
-
-
Liu, H.1
Shafey, D.2
Moores, J.N.3
Kothary, R.4
-
36
-
-
77951798101
-
Mice deficient in Mkp-1 develop more severe pulmonary hypertension and greater lung protein levels of arginase in response to chronic hypoxia
-
Jin, Y., Calvert, T.J., Chen, B., Chicoine, L.G., Joshi, M., Bauer, J.A., Liu, Y. and Nelin, L.D. (2010) Mice deficient in Mkp-1 develop more severe pulmonary hypertension and greater lung protein levels of arginase in response to chronic hypoxia. Am. J. Physiol. Heart Circ. Physiol., 298, H1518-H1528.
-
(2010)
Am. J. Physiol. Heart Circ. Physiol.
, vol.298
-
-
Jin, Y.1
Calvert, T.J.2
Chen, B.3
Chicoine, L.G.4
Joshi, M.5
Bauer, J.A.6
Liu, Y.7
Nelin, L.D.8
-
37
-
-
77956639960
-
Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy
-
Bebee, T.W., Gladman, J.T. and Chandler, D.S. (2010) Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy. Front. Biosci., 15, 1191-1204.
-
(2010)
Front. Biosci.
, vol.15
, pp. 1191-1204
-
-
Bebee, T.W.1
Gladman, J.T.2
Chandler, D.S.3
-
38
-
-
79960095739
-
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model
-
Singh, N.N. and Singh, R.N. (2011) Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. RNA Biol., 8, 600-606.
-
(2011)
RNA Biol
, vol.8
, pp. 600-606
-
-
Singh, N.N.1
Singh, R.N.2
-
39
-
-
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
-
40
-
-
77957873997
-
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype
-
Gladman, J.T., Bebee, T.W., Edwards, C., Wang, X., Sahenk, Z., Rich, M.M. and Chandler, D.S. (2010) A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum. Mol. Genet., 19, 4239-4252.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4239-4252
-
-
Gladman, J.T.1
Bebee, T.W.2
Edwards, C.3
Wang, X.4
Sahenk, Z.5
Rich, M.M.6
Chandler, D.S.7
-
41
-
-
34848897216
-
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
-
Vezain, M., Saugier-Veber, P., Melki, J., Toutain, A., Bieth, E., Husson, M., Pedespan, J.M., Viollet, L., Pénisson-Besnier, I., Fehrenbach, S. et al. (2007) A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur. J. Hum. Genet., 15, 1054-1062.
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 1054-1062
-
-
Vezain, M.1
Saugier-Veber, P.2
Melki, J.3
Toutain, A.4
Bieth, E.5
Husson, M.6
Pedespan, J.M.7
Viollet, L.8
Pénisson-Besnier, I.9
Fehrenbach, S.10
-
42
-
-
66049124365
-
The role of RNP biogenesis in spinal muscular atrophy
-
Chari, A., Paknia, E. and Fischer, U. (2009) The role of RNP biogenesis in spinal muscular atrophy. Curr. Opin. Cell Biol., 21, 387-393.
-
(2009)
Curr. Opin. Cell Biol.
, vol.21
, pp. 387-393
-
-
Chari, A.1
Paknia, E.2
Fischer, U.3
-
43
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
Fischer, U., Liu, Q. and Dreyfuss, G. (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell, 90, 1023-1029.
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
44
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
Liu, Q., Fischer, U., Wang, F. and Dreyfuss, G. (1997) The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell, 90, 1013-1021.
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
45
-
-
79960167259
-
Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration
-
Saxena, S. and Caroni, P. (2011) Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration. Neuron, 71, 35-48.
-
(2011)
Neuron
, vol.71
, pp. 35-48
-
-
Saxena, S.1
Caroni, P.2
-
46
-
-
84860465622
-
Nocturnal hypoxemia and hypercapnia in children with neuromuscular disorders
-
Bersanini, C., Khirani, S., Ramirez, A., Lofaso, F., Aubertin, G., Beydon, N., Mayer, M., Maincent, K., Boule, M. and Fauroux, B. (2011) Nocturnal hypoxemia and hypercapnia in children with neuromuscular disorders. Eur. Resp. J., 39, 1206-1212.
-
(2011)
Eur. Resp. J.
, vol.39
, pp. 1206-1212
-
-
Bersanini, C.1
Khirani, S.2
Ramirez, A.3
Lofaso, F.4
Aubertin, G.5
Beydon, N.6
Mayer, M.7
Maincent, K.8
Boule, M.9
Fauroux, B.10
-
47
-
-
9744257754
-
Sleep disordered breathing in spinal muscular atrophy
-
Mellies, U., Dohna-Schwake, C., Stehling, F. and Voit, T. (2004) Sleep disordered breathing in spinal muscular atrophy. Neuromuscul. Disord., 14, 797-803.
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 797-803
-
-
Mellies, U.1
Dohna-Schwake, C.2
Stehling, F.3
Voit, T.4
-
48
-
-
0018254680
-
Blood flow and relative tissue PO2 of brain and muscle: role of carotid chemoreceptors
-
Neubauer, J.A., Feldman, R.S., Huang, J.T., Vinten-Johansen, J. and Weiss, H.R. (1978) Blood flow and relative tissue PO2 of brain and muscle: role of carotid chemoreceptors. J. Appl. Physiol., 45, 419-424.
-
(1978)
J. Appl. Physiol.
, vol.45
, pp. 419-424
-
-
Neubauer, J.A.1
Feldman, R.S.2
Huang, J.T.3
Vinten-Johansen, J.4
Weiss, H.R.5
-
49
-
-
33746516731
-
hnRNP A1 relocalization to the stress granules reflects a role in the stress response
-
Guil, S., Long, J.C. and Cáceres, J.F. (2006) hnRNP A1 relocalization to the stress granules reflects a role in the stress response. Mol. Cell. Biol., 26, 5744-5758.
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 5744-5758
-
-
Guil, S.1
Long, J.C.2
Cáceres, J.F.3
-
50
-
-
70350380472
-
Sam68 relocalization into stress granules in response to oxidative stress through complexing with TIA-1
-
Henao-Mejia, J. and He, J.J. (2009) Sam68 relocalization into stress granules in response to oxidative stress through complexing with TIA-1. Exp. Cell Res., 315, 3381-3395.
-
(2009)
Exp. Cell Res.
, vol.315
, pp. 3381-3395
-
-
Henao-Mejia, J.1
He, J.J.2
-
51
-
-
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. Biotech., 28, 271-274.
-
(2010)
Nat. Biotech.
, 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
-
52
-
-
60349129029
-
Emerging treatment options for spinal muscular atrophy
-
Burnett, B.G., Crawford, T.O. and Sumner, C.J. (2009) Emerging treatment options for spinal muscular atrophy. Curr. Treat. Options Neurol., 11, 90-101.
-
(2009)
Curr. Treat. Options Neurol.
, vol.11
, pp. 90-101
-
-
Burnett, B.G.1
Crawford, T.O.2
Sumner, C.J.3
-
53
-
-
0032648206
-
Preparation of HeLa cell nuclear and cytosolic S100 extracts for in vitro splicing
-
Mayeda, A. and Krainer, A.R. (1999) Preparation of HeLa cell nuclear and cytosolic S100 extracts for in vitro splicing. Meth. Mol. Biol., 118, 309-314.
-
(1999)
Meth. Mol. Biol.
, vol.118
, pp. 309-314
-
-
Mayeda, A.1
Krainer, A.R.2
|