-
1
-
-
84877747508
-
Blood-brain barrier structure and function and the challenges for CNS drug delivery
-
Abbott, N. J. (2013). Blood-brain barrier structure and function and the challenges for CNS drug delivery. J. Inherit. Metab. Dis. 36, 437-449.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 437-449
-
-
Abbott, N.J.1
-
2
-
-
84875236246
-
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
-
Ackermann, B., Kröber, S., Torres-Benito, L., Borgmann, A., Peters, M., Hosseini Barkooie, S. M., Tejero, R., Jakubik, M., Schreml, J., Milbradt, J. et al. (2013). Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum. Mol. Genet. 22, 1328-1347.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1328-1347
-
-
Ackermann, B.1
Kröber, S.2
Torres-Benito, L.3
Borgmann, A.4
Peters, M.5
Hosseini Barkooie, S.M.6
Tejero, R.7
Jakubik, M.8
Schreml, J.9
Milbradt, J.10
-
3
-
-
84908883064
-
Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of schwann cell defects in spinal muscular atrophy
-
Aghamaleky Sarvestany, A., Hunter, G., Tavendale, A., Lamont, D. J., Llavero Hurtado, M., Graham, L. C., Wishart, T. M. and Gillingwater, T. H. (2014). Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy. J. Proteome Res. 13, 4546-4557.
-
(2014)
J. Proteome Res.
, vol.13
, pp. 4546-4557
-
-
Aghamaleky Sarvestany, A.1
Hunter, G.2
Tavendale, A.3
Lamont, D.J.4
Llavero Hurtado, M.5
Graham, L.C.6
Wishart, T.M.7
Gillingwater, T.H.8
-
4
-
-
85015253691
-
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy
-
Armbruster, N., Lattanzi, A., Jeavons, M., Van Wittenberghe, L., Gjata, B., Marais, T., Martin, S., Vignaud, A., Voit, T., Mavilio, F. et al. (2016). Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy. Mol. Ther. Methods Clin. Dev. 3, 16060.
-
(2016)
Mol. Ther. Methods Clin. Dev.
, vol.3
, pp. 16060
-
-
Armbruster, N.1
Lattanzi, A.2
Jeavons, M.3
Van Wittenberghe, L.4
Gjata, B.5
Marais, T.6
Martin, S.7
Vignaud, A.8
Voit, T.9
Mavilio, F.10
-
5
-
-
84905658629
-
Cell-mediated immunity to AAV vectors, evolving concepts and potential solutions
-
Basner-Tschakarjan, E. and Mingozzi, F. (2014). Cell-mediated immunity to AAV vectors, evolving concepts and potential solutions. Front. Immunol. 5, 350.
-
(2014)
Front. Immunol.
, vol.5
, pp. 350
-
-
Basner-Tschakarjan, E.1
Mingozzi, F.2
-
6
-
-
74249094999
-
Alternative splicing events arealate feature of pathologyinamouse model ofspinal muscular atrophy
-
Bäumer, D., Lee, S., Nicholson, G., Davies, J. L., and Parkinson, N. J., Murray, L. M., Gillingwater, T. H., Ansorge, O., Davies, K. E. and Talbot, K. (2009). Alternative splicing events arealate feature of pathologyinamouse model ofspinal muscular atrophy. PLoS Genet. 5, e1000773.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000773
-
-
Bäumer, 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
-
7
-
-
0031578699
-
Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron
-
Bergin, A., Kim, G., Price, D.L., Sisodia, S. S., Lee, M. K. and Rabin, B.A. (1997). Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene 204, 47-53.
-
(1997)
Gene
, vol.204
, pp. 47-53
-
-
Bergin, A.1
Kim, G.2
Price, D.L.3
Sisodia, S.S.4
Lee, M.K.5
Rabin, B.A.6
-
8
-
-
84940102809
-
Focus on PTEN regulation
-
Bermúdez Brito, M., Goulielmaki, E. and Papakonstanti, E. A. (2015). Focus on PTEN regulation. Front. Oncol. 5, 166.
-
(2015)
Front. Oncol.
, vol.5
, pp. 166
-
-
Bermúdez Brito, M.1
Goulielmaki, E.2
Papakonstanti, E.A.3
-
9
-
-
85018331440
-
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: A randomised, double-blind, placebo-controlled phase 2 trial
-
Bertini, E., Dessaud, E., Mercuri, E., Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., and Comi, G. P., Cuisset, J.-M., Abitbol, J.-L. et al. (2017). Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol. 16, 513-522.
-
(2017)
Lancet Neurol.
, vol.16
, pp. 513-522
-
-
Bertini, E.1
Dessaud, E.2
Mercuri, E.3
Muntoni, F.4
Kirschner, J.5
Reid, C.6
Lusakowska, A.7
Comi, G.P.8
Cuisset, J.-M.9
Abitbol, J.-L.10
-
10
-
-
84868371403
-
Pip6-PMO, a new generation of peptide-oligonucleotide conjugates with improved cardiac exon skipping activity for DMD treatment
-
Betts, C., and Saleh, A. F., Arzumanov, A. A., Hammond, S. M., Godfrey, C., Coursindel, T., Gait, M. J. and Wood, M. J. A. (2012). Pip6-PMO, a new generation of peptide-oligonucleotide conjugates with improved cardiac exon skipping activity for DMD treatment. Mol. Ther. Nucleic Acids 1, e38.
-
(2012)
Mol. Ther. Nucleic Acids
, vol.1
, pp. e38
-
-
Betts, C.1
Saleh, A.F.2
Arzumanov, A.A.3
Hammond, S.M.4
Godfrey, C.5
Coursindel, T.6
Gait, M.J.7
Wood, M.J.A.8
-
11
-
-
77957741150
-
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
-
Bevan, A. K., and Hutchinson, K. R., Foust, K. D., Braun, L., McGovern, V. L., Schmelzer, L., and Ward, J. G., Petruska, J. C., Lucchesi, P. A., Burghes, A. H. M. 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.M.10
-
12
-
-
77952120023
-
Olesoxime (TRO19622): A novel mitochondrial-targeted neuroprotective compound
-
Bordet, T., Berna, P., Abitbol, J.-L. and Pruss, R. M. (2010). Olesoxime (TRO19622): a novel mitochondrial-targeted neuroprotective compound. Pharm. Basel Switz. 3, 345-368.
-
(2010)
Pharm. Basel Switz.
, vol.3
, pp. 345-368
-
-
Bordet, T.1
Berna, P.2
Abitbol, J.-L.3
Pruss, R.M.4
-
13
-
-
34648847089
-
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
-
Bowerman, M., Shafey, D. and Kothary, R. (2007). Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity. J. Mol. Neurosci. MN 32, 120-131.
-
(2007)
J. Mol. Neurosci. MN
, vol.32
, pp. 120-131
-
-
Bowerman, M.1
Shafey, D.2
Kothary, R.3
-
14
-
-
77952318830
-
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
-
Bowerman, M., Beauvais, A., Anderson, C. L. and Kothary, R. (2010). Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum. Mol. Genet. 19, 1468-1478.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 1468-1478
-
-
Bowerman, M.1
Beauvais, A.2
Anderson, C.L.3
Kothary, R.4
-
15
-
-
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., and Murray, L. M., Beauvais, A., Pinheiro, B. and Kothary, R. (2012a). A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul. Disord. NMD 22, 263-276.
-
(2012)
Neuromuscul. Disord. NMD
, vol.22
, pp. 263-276
-
-
Bowerman, M.1
Murray, L.M.2
Beauvais, A.3
Pinheiro, B.4
Kothary, R.5
-
16
-
-
84857711556
-
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
-
Bowerman, M., and Murray, L. M., Boyer, J. G., Anderson, C. L. and Kothary, R. (2012b). Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy. BMC Med. 10, 24.
-
(2012)
BMC Med.
, vol.10
, pp. 24
-
-
Bowerman, M.1
Murray, L.M.2
Boyer, J.G.3
Anderson, C.L.4
Kothary, R.5
-
17
-
-
84865592642
-
Glucose metabolism and pancreatic defects in spinal muscular atrophy
-
Bowerman, M., and Swoboda, K. J., Michalski, J.-P., Wang, G.-S., Reeks, C., Beauvais, A., Murphy, K., Woulfe, J., Screaton, R.. A., Scott, F. W. et al. (2012c). Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann. Neurol. 72, 256-268.
-
(2012)
Ann. Neurol.
, vol.72
, pp. 256-268
-
-
Bowerman, M.1
Swoboda, K.J.2
Michalski, J.-P.3
Wang, G.-S.4
Reeks, C.5
Beauvais, A.6
Murphy, K.7
Woulfe, J.8
Screaton, R.A.9
Scott, F.W.10
-
18
-
-
84902331914
-
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
-
Bowerman, M., Michalski, J.-P., Beauvais, A., and Murray, L. M., DeRepentigny, Y. and Kothary, R. (2014). Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology. Hum. Mol. Genet. 23, 3432-3444.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 3432-3444
-
-
Bowerman, M.1
Michalski, J.-P.2
Beauvais, A.3
Murray, L.M.4
DeRepentigny, Y.5
Kothary, R.6
-
19
-
-
85018371495
-
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
-
Boyd, P. J., Tu, W.-Y., and Shorrock, H. K., Groen, E. J.N., Carter, R. N., Powis, R. A., Thomson, S. R., Thomson, D., Graham, L. C., Motyl, A. A. L. et al. (2017). Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genet. 13, e1006744.
-
(2017)
PLoS Genet.
, vol.13
, pp. e1006744
-
-
Boyd, P.J.1
Tu, W.-Y.2
Shorrock, H.K.3
Groen, E.J.N.4
Carter, R.N.5
Powis, R.A.6
Thomson, S.R.7
Thomson, D.8
Graham, L.C.9
Motyl, A.A.L.10
-
20
-
-
84885361254
-
Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy
-
Boyer, J. G., and Murray, L. M., Scott, K., De Repentigny, Y., Renaud, J.-M. and Kothary, R. (2013). Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skelet. Muscle 3, 24.
-
(2013)
Skelet. Muscle
, vol.3
, pp. 24
-
-
Boyer, J.G.1
Murray, L.M.2
Scott, K.3
De Repentigny, Y.4
Renaud, J.-M.5
Kothary, R.6
-
21
-
-
84933576365
-
Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons
-
Boza-Morán, M. G., Martínez-Hernández, R., Bernal, S., Wanisch, K., Also-Rallo, E., Le Heron, A., Alías, L., Denis, C., Girard, M., Yee, J.-K. et al. (2015). Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons. Sci. Rep. 5, 11696.
-
(2015)
Sci. Rep.
, vol.5
, pp. 11696
-
-
Boza-Morán, M.G.1
Martínez-Hernández, R.2
Bernal, S.3
Wanisch, K.4
Also-Rallo, E.5
Le Heron, A.6
Alías, L.7
Denis, C.8
Girard, M.9
Yee, J.-K.10
-
22
-
-
33750977852
-
Caenorhabditis elegans in the study of SMN-interacting proteins: A role for SMI-1, an orthologue of human gemin2 and the identification of novel components of the SMN complex
-
Burt, E. C., Towers, P. R. and Sattelle, D. B. (2006). Caenorhabditis elegans in the study of SMN-interacting proteins: a role for SMI-1, an orthologue of human Gemin2 and the identification of novel components of the SMN complex. Invert. Neurosci. 6, 145-159.
-
(2006)
Invert. Neurosci.
, vol.6
, pp. 145-159
-
-
Burt, E.C.1
Towers, P.R.2
Sattelle, D.B.3
-
23
-
-
84856770195
-
SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA
-
Caraballo-Miralles, V., Cardona-Rossinyol, A., Garcera, A., Villalonga, P., Soler, R. M., Olmos, G. and Lladó, J. (2012). SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA. Mol. Cell. Neurosci. 49, 282-289.
-
(2012)
Mol. Cell. Neurosci.
, vol.49
, pp. 282-289
-
-
Caraballo-Miralles, V.1
Cardona-Rossinyol, A.2
Garcera, A.3
Villalonga, P.4
Soler, R.M.5
Olmos, G.6
Lladó, J.7
-
24
-
-
0033571601
-
The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the cajal (coiled) body
-
Carvalho, T., Almeida, F., Calapez, A., Lafarga, M., Berciano, M. T. and Carmo-Fonseca, M. (1999). The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. J. Cell Biol. 147, 715-728.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 715-728
-
-
Carvalho, T.1
Almeida, F.2
Calapez, A.3
Lafarga, M.4
Berciano, M.T.5
Carmo-Fonseca, M.6
-
25
-
-
0038039295
-
Neuromuscular defects in a drosophila survival motor neuron gene mutant
-
Chan, Y. B., Miguel-Aliaga, I., Franks, C., Thomas, N., Trulzsch, B., Sattelle, D. B., Davies, K. E. and van den Heuvel, M. (2003). Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum. Mol. Genet. 12, 1367-1376.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1367-1376
-
-
Chan, Y.B.1
Miguel-Aliaga, I.2
Franks, C.3
Thomas, N.4
Trulzsch, B.5
Sattelle, D.B.6
Davies, K.E.7
Van Den Heuvel, M.8
-
26
-
-
52449095571
-
Modeling spinal muscular atrophy in drosophila
-
Chang, H.C.-H., Dimlich, D. N., Yokokura, T., Mukherjee, A., Kankel, M.W., Sen, A., Sridhar, V., Fulga, T. A., Hart, A. C., Van Vactor, D. et al. (2008). Modeling spinal muscular atrophy in Drosophila. PLoS ONE 3, e3209.
-
(2008)
PLoS ONE
, vol.3
, pp. e3209
-
-
Chang, H.C.-H.1
Dimlich, D.N.2
Yokokura, T.3
Mukherjee, A.4
Kankel, M.W.5
Sen, A.6
Sridhar, V.7
Fulga, T.A.8
Hart, A.C.9
Van Vactor, D.10
-
27
-
-
0034688999
-
Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
-
Charroux, B., Pellizzoni, L., Perkinson, R. A., Yong, J., Shevchenko, A., Mann, M. and Dreyfuss, G. (2000). Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J. Cell Biol. 148, 1177-1186.
-
(2000)
J. Cell Biol.
, vol.148
, pp. 1177-1186
-
-
Charroux, B.1
Pellizzoni, L.2
Perkinson, R.A.3
Yong, J.4
Shevchenko, A.5
Mann, M.6
Dreyfuss, G.7
-
28
-
-
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
-
29
-
-
85027400819
-
Neural stem cells and human induced pluripotent stem cells to model rare CNS diseases
-
[Epub ahead of print]
-
De Filippis, L., Zalfa, C. and Ferrari, D. (2017). Neural Stem Cells and Human induced pluripotent stem cells to model rare CNS diseases. CNS Neurol. Disord. Drug Targets doi:10.2174/1871527316666170615121753 [Epub ahead of print].
-
(2017)
CNS Neurol. Disord. Drug Targets
-
-
De Filippis, L.1
Zalfa, C.2
Ferrari, D.3
-
30
-
-
85018446285
-
Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice
-
Deguise, M.-O., De Repentigny, Y., McFall, E., Auclair, N., Sad, S. and Kothary, R. (2017). Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice. Hum. Mol. Genet 26, 801-819.
-
(2017)
Hum. Mol. Genet
, vol.26
, pp. 801-819
-
-
Deguise, M.-O.1
De Repentigny, Y.2
McFall, E.3
Auclair, N.4
Sad, S.5
Kothary, R.6
-
31
-
-
85009104871
-
Human induced pluripotent stem cells: A disruptive innovation
-
De Vos, J., Bouckenheimer, J., Sansac, C., Lemaître, J.-M. and Assou, S. (2016). Human induced pluripotent stem cells: a disruptive innovation. Curr. Res. Transl. Med. 64, 91-96.
-
(2016)
Curr. Res. Transl. Med.
, vol.64
, pp. 91-96
-
-
De Vos, J.1
Bouckenheimer, J.2
Sansac, C.3
Lemaître, J.-M.4
Assou, S.5
-
32
-
-
85015991868
-
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
-
Doktor, T. K., Hua, Y., Andersen, H. S., Brøner, S., and Liu, Y. H., Wieckowska, A., Dembic, M., Bruun, G. H., Krainer, A. R. and Andresen, B. S. (2017). RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. Nucleic Acids Res. 45, 395-416.
-
(2017)
Nucleic Acids Res.
, vol.45
, pp. 395-416
-
-
Doktor, T.K.1
Hua, Y.2
Andersen, H.S.3
Brøner, S.4
Liu, Y.H.5
Wieckowska, A.6
Dembic, M.7
Bruun, G.H.8
Krainer, A.R.9
Andresen, B.S.10
-
33
-
-
84964483947
-
A role for the survival of motor neuron protein in mRNP assembly and transport
-
Donlin-Asp, P. G., Bassell, G. J. and Rossoll, W. (2016). A role for the survival of motor neuron protein in mRNP assembly and transport. Curr. Opin. Neurobiol. 39, 53-61.
-
(2016)
Curr. Opin. Neurobiol.
, vol.39
, pp. 53-61
-
-
Donlin-Asp, P.G.1
Bassell, G.J.2
Rossoll, W.3
-
34
-
-
84878684143
-
Splicing therapy for neuromuscular disease
-
Douglas, A. G. L. and Wood, M. J. A. (2013). Splicing therapy for neuromuscular disease. Mol. Cell. Neurosci. 56, 169-185.
-
(2013)
Mol. Cell. Neurosci.
, vol.56
, pp. 169-185
-
-
Douglas, A.G.L.1
Wood, M.J.A.2
-
35
-
-
84923771867
-
A large animal model of spinal muscular atrophy and correction of phenotype
-
Duque, S. I., and Arnold, W. D., Odermatt, P., Li, X., Porensky, P. N., Schmelzer, L., Meyer, K., Kolb, S. J., Schumperli, D., Kaspar, B. K. et al. (2015). A large animal model of Spinal Muscular Atrophy and correction of phenotype. Ann. Neurol. 77, 399-414.
-
(2015)
Ann. Neurol.
, vol.77
, 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
Schumperli, D.9
Kaspar, B.K.10
-
37
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient
-
Ebert, A. D., Yu, J., Rose, F. F., and Mattis, V. B., Lorson, C. L., Thomson, J. A. and Svendsen, C. N. (2009). Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 457, 277-280.
-
(2009)
Nature
, vol.457
, pp. 277-280
-
-
Ebert, A.D.1
Yu, J.2
Rose, F.F.3
Mattis, V.B.4
Lorson, C.L.5
Thomson, J.A.6
Svendsen, C.N.7
-
38
-
-
84867747706
-
Induced pluripotent stem cells as a disease modeling and drug screening platform
-
Ebert, A. D., Liang, P. and Wu, J. C. (2012). Induced pluripotent stem cells as a disease modeling and drug screening platform. J. Cardiovasc. Pharmacol. 60, 408-416.
-
(2012)
J. Cardiovasc. Pharmacol.
, vol.60
, pp. 408-416
-
-
Ebert, A.D.1
Liang, P.2
Wu, J.C.3
-
39
-
-
77951050303
-
High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function
-
Fallini, C., Bassell, G. J. and Rossoll, W. (2010). High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function. Mol. Neurodegener. 5, 17.
-
(2010)
Mol. Neurodegener.
, vol.5
, pp. 17
-
-
Fallini, C.1
Bassell, G.J.2
Rossoll, W.3
-
40
-
-
0036647269
-
Survival motor neuron (SMN) protein: Role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
-
Fan, L. and Simard, L. R. (2002). Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Hum. Mol. Genet. 11, 1605-1614.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1605-1614
-
-
Fan, L.1
Simard, L.R.2
-
41
-
-
85006321439
-
Treatment of infantile-onset spinal muscular atrophy with nusinersen: A phase 2, open-label, dose-escalation study
-
Finkel, R. S., and Chiriboga, C. A., Vajsar, J., Day, J. W., Montes, J., De Vivo, D. C., Yamashita, M., Rigo, F., Hung, G., Schneider, E. et al. (2016). Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet Lond. Engl. 388, 3017-3026.
-
(2016)
Lancet Lond. Engl.
, vol.388
, pp. 3017-3026
-
-
Finkel, R.S.1
Chiriboga, C.A.2
Vajsar, J.3
Day, J.W.4
Montes, J.5
De Vivo, D.C.6
Yamashita, M.7
Rigo, F.8
Hung, G.9
Schneider, E.10
-
42
-
-
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., and Bevan, A. K., Haidet, A. M., Le, T. T., and Morales, P. R., Rich, M. M., Burghes, A. H. M. 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.M.10
-
43
-
-
41549119007
-
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
-
Gabanella, F., Butchbach, M. E. R., Saieva, L., Carissimi, C., Burghes, A. H. M. and Pellizzoni, L. (2007). Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE 2, e921.
-
(2007)
PLoS ONE
, vol.2
, pp. e921
-
-
Gabanella, F.1
Butchbach, M.E.R.2
Saieva, L.3
Carissimi, C.4
Burghes, A.H.M.5
Pellizzoni, L.6
-
44
-
-
0029147787
-
Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients
-
Gennarelli, M., Lucarelli, M., Capon, F., Pizzuti, A., Merlini, L., Angelini, C., Novelli, G. and Dallapiccola, B. (1995). Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients. Biochem. Biophys. Res. Commun. 213, 342-348.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.213
, pp. 342-348
-
-
Gennarelli, M.1
Lucarelli, M.2
Capon, F.3
Pizzuti, A.4
Merlini, L.5
Angelini, C.6
Novelli, G.7
Dallapiccola, B.8
-
45
-
-
85006276883
-
Dawn of a new therapeutic era for spinal muscular atrophy
-
Gillingwater, T. H. (2016). Dawn of a new therapeutic era for spinal muscular atrophy. Lancet Lond. Engl. 388, 2964-2965.
-
(2016)
Lancet Lond. Engl.
, vol.388
, pp. 2964-2965
-
-
Gillingwater, T.H.1
-
47
-
-
84942511422
-
UBA1: At the crossroads of ubiquitin homeostasis and neurodegeneration
-
Groen, E. J. N. and Gillingwater, T. H. (2015). UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration. Trends Mol. Med. 21, 622-632.
-
(2015)
Trends Mol. Med.
, vol.21
, pp. 622-632
-
-
Groen, E.J.N.1
Gillingwater, T.H.2
-
48
-
-
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
-
49
-
-
78650827775
-
Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late
-
Hammond, S. M., and Gogliotti, R. G., Rao, V., Beauvais, A., Kothary, R. and DiDonato, C. J. (2010). Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. PLoS ONE 5, e15887.
-
(2010)
PLoS ONE
, vol.5
, pp. e15887
-
-
Hammond, S.M.1
Gogliotti, R.G.2
Rao, V.3
Beauvais, A.4
Kothary, R.5
DiDonato, C.J.6
-
50
-
-
84989860382
-
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
-
Hammond, S. M., Hazell, G., Shabanpoor, F., Saleh, A. F., Bowerman, M., and Sleigh, J. N., Meijboom, K. E., Zhou, H., Muntoni, F., Talbot, K. et al. (2016). Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proc. Natl. Acad. Sci. USA 113, 10962-10967.
-
(2016)
Proc. Natl. Acad. Sci. USA
, vol.113
, pp. 10962-10967
-
-
Hammond, S.M.1
Hazell, G.2
Shabanpoor, F.3
Saleh, A.F.4
Bowerman, M.5
Sleigh, J.N.6
Meijboom, K.E.7
Zhou, H.8
Muntoni, F.9
Talbot, K.10
-
51
-
-
79953121904
-
Generation and characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene
-
Hao, L. T., Burghes, A. H. M. and Beattie, C. E. (2011). Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. Mol. Neurodegener. 6, 24.
-
(2011)
Mol. Neurodegener.
, vol.6
, pp. 24
-
-
Hao, L.T.1
Burghes, A.H.M.2
Beattie, C.E.3
-
52
-
-
84859529773
-
Survival motor neuron affects plastin 3 protein levels leading to motor defects
-
Hao, L. T., Wolman, M., Granato, M. and Beattie, C. E. (2012). Survival motor neuron affects plastin 3 protein levels leading to motor defects. J. Neurosci. Off. J. Soc. Neurosci. 32, 5074-5084.
-
(2012)
J. Neurosci. Off. J. Soc. Neurosci.
, vol.32
, pp. 5074-5084
-
-
Hao, L.T.1
Wolman, M.2
Granato, M.3
Beattie, C.E.4
-
53
-
-
84878941262
-
Temporal requirement for SMN in motoneuron development
-
Hao, L. T., and Duy, P. Q., Jontes, J. D., Wolman, M., Granato, M. and Beattie, C. E. (2013). Temporal requirement for SMN in motoneuron development. Hum. Mol. Genet. 22, 2612-2625.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2612-2625
-
-
Hao, L.T.1
Duy, P.Q.2
Jontes, J.D.3
Wolman, M.4
Granato, M.5
Beattie, C.E.6
-
54
-
-
84922431251
-
Motoneuron development influences dorsal root ganglia survival and schwann cell development in a vertebrate model of spinal muscular atrophy
-
Hao, L. T., and Duy, P. Q., Jontes, J. D. and Beattie, C. E. (2015). Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy. Hum. Mol. Genet. 24, 346-360.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 346-360
-
-
Hao, L.T.1
Duy, P.Q.2
Jontes, J.D.3
Beattie, C.E.4
-
55
-
-
84963800718
-
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals
-
Heesen, L., Peitz, M., Torres-Benito, L., Hölker, I., Hupperich, K., Dobrindt, K., Jungverdorben, J., Ritzenhofen, S., Weykopf, B., Eckert, D. et al. (2016). Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell. Mol. Life Sci. CMLS 73, 2089-2104.
-
(2016)
Cell. Mol. Life Sci. CMLS
, vol.73
, pp. 2089-2104
-
-
Heesen, L.1
Peitz, M.2
Torres-Benito, L.3
Hölker, I.4
Hupperich, K.5
Dobrindt, K.6
Jungverdorben, J.7
Ritzenhofen, S.8
Weykopf, B.9
Eckert, D.10
-
56
-
-
77957735974
-
Arrhythmia and cardiac defects are afeature ofspinal muscular atrophy model mice
-
Heier, C. R., Satta, R., Lutz, C. and DiDonato, C. J. (2010). Arrhythmia and cardiac defects are afeature ofspinal 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
-
57
-
-
85040129119
-
The actin cytoskeletoninSMA and ALS: How does it contribute to motoneuron degeneration?
-
[Epub ahead of print].
-
Hensel, N. and Claus, P. (2017). The actin cytoskeletoninSMA and ALS: how does it contribute to motoneuron degeneration? Neurosci. Rev. J. Bringing Neurobiol. Neurol. Psychiatry. doi:10.1177/1073858417705059 [Epub ahead of print].
-
(2017)
Neurosci. Rev. J. Bringing Neurobiol. Neurol. Psychiatry
-
-
Hensel, N.1
Claus, P.2
-
58
-
-
84891086280
-
Bilateral crosstalk of rho- and extracellular-signal-regulated-kinase (ERK) pathways is confined to an unidirectional mode in spinal muscular atrophy (SMA)
-
Hensel, N., Stockbrugger, I., Rademacher, S., Broughton, N., Brinkmann, H., Grothe, C. and Claus, P. (2014). Bilateral crosstalk of rho- and extracellular-signal-regulated-kinase (ERK) pathways is confined to an unidirectional mode in spinal muscular atrophy (SMA). Cell. Signal. 26, 540-548.
-
(2014)
Cell. Signal.
, vol.26
, pp. 540-548
-
-
Hensel, N.1
Stockbrugger, I.2
Rademacher, S.3
Broughton, N.4
Brinkmann, H.5
Grothe, C.6
Claus, P.7
-
59
-
-
84999711589
-
The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype
-
Hosseinibarkooie, S., Peters, M., Torres-Benito, L., Rastetter, R. H., Hupperich, K., Hoffmann, A., Mendoza-Ferreira, N., Kaczmarek, A., Janzen, E., Milbradt, J. et al. (2016). The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype. Am. J. Hum. Genet. 99, 647-665.
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 647-665
-
-
Hosseinibarkooie, S.1
Peters, M.2
Torres-Benito, L.3
Rastetter, R.H.4
Hupperich, K.5
Hoffmann, A.6
Mendoza-Ferreira, N.7
Kaczmarek, A.8
Janzen, E.9
Milbradt, J.10
-
60
-
-
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
-
61
-
-
84897555324
-
SMN-dependent intrinsic defects in schwann cells in mouse models of spinal muscular atrophy
-
Hunter, G., Aghamaleky Sarvestany, A., Roche, S. L., Symes, R. C. and Gillingwater, T. H. (2014). SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Hum. Mol. Genet. 23, 2235-2250.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 2235-2250
-
-
Hunter, G.1
Aghamaleky Sarvestany, A.2
Roche, S.L.3
Symes, R.C.4
Gillingwater, T.H.5
-
62
-
-
85016017024
-
Restoration of SMN in schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
-
Hunter, G., and Powis, R. A., Jones, R. A., Groen, E. J. N., Shorrock, H. K., and Lane, F. M., Zheng, Y., Sherman, D. L., Brophy, P. J. and Gillingwater, T. H. (2016). Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Hum. Mol. Genet. 25, 2853-2861.
-
(2016)
Hum. Mol. Genet.
, vol.25
, pp. 2853-2861
-
-
Hunter, G.1
Powis, R.A.2
Jones, R.A.3
Groen, E.J.N.4
Shorrock, H.K.5
Lane, F.M.6
Zheng, Y.7
Sherman, D.L.8
Brophy, P.J.9
Gillingwater, T.H.10
-
63
-
-
84900563424
-
Fast skeletal muscle troponin activator tirasemtiv increases muscle function and performance in the B6SJL-SOD1G93A ALS mouse model
-
Hwee, D. T., Kennedy, A., Ryans, J., Russell, A. J., Jia, Z., and Hinken, A. C., Morgans, D. J., Malik, F. I. and Jasper, J. R. (2014). Fast skeletal muscle troponin activator tirasemtiv increases muscle function and performance in the B6SJL-SOD1G93A ALS mouse model. PLoS ONE 9, e96921.
-
(2014)
PLoS ONE
, vol.9
, pp. e96921
-
-
Hwee, D.T.1
Kennedy, A.2
Ryans, J.3
Russell, A.J.4
Jia, Z.5
Hinken, A.C.6
Morgans, D.J.7
Malik, F.I.8
Jasper, J.R.9
-
64
-
-
84928935578
-
The small-molecule fast skeletal troponin activator, CK-2127107, improves exercise tolerance in arat model of heart failure
-
Hwee, D. T., and Kennedy, A. R., Hartman, J. J., Ryans, J., Durham, N., Malik, F. I. and Jasper, J. R. (2015). The small-molecule fast skeletal troponin activator, CK-2127107, improves exercise tolerance in arat model of heart failure. J. Pharmacol. Exp. Ther. 353, 159-168.
-
(2015)
J. Pharmacol. Exp. Ther.
, vol.353
, pp. 159-168
-
-
Hwee, D.T.1
Kennedy, A.R.2
Hartman, J.J.3
Ryans, J.4
Durham, N.5
Malik, F.I.6
Jasper, J.R.7
-
65
-
-
85032841725
-
Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy
-
Kaifer, K. A., Villalón, E., and Osman, E. Y., Glascock, J. J., Arnold, L. L., Cornelison, D. D. W. and Lorson, C. L. (2017). Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy. JCI Insight 2, e89970.
-
(2017)
JCI Insight
, vol.2
, pp. e89970
-
-
Kaifer, K.A.1
Villalón, E.2
Osman, E.Y.3
Glascock, J.J.4
Arnold, L.L.5
Cornelison, D.D.W.6
Lorson, C.L.7
-
66
-
-
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. 17, 2552-2569.
-
(2008)
Hum. Mol. Genet.
, vol.17
, 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
-
67
-
-
84871313487
-
Prospective cohort study of spinal muscular atrophy types 2 and 3
-
Kaufmann, P., and McDermott, M. P., Darras, B. T., Finkel, R. S., and Sproule, D. M., Kang, P. B., Oskoui, M., Constantinescu, A., and 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
-
68
-
-
58849103600
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
-
Kong, L., Wang, X., Choe, D. W., Polley, M., and Burnett, B. G., Bosch-Marcé, 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. Off. J. Soc. Neurosci. 29, 842-851.
-
(2009)
J. Neurosci. Off. J. Soc. Neurosci.
, vol.29
, pp. 842-851
-
-
Kong, L.1
Wang, X.2
Choe, D.W.3
Polley, M.4
Burnett, B.G.5
Bosch-Marcé, M.6
Griffin, J.W.7
Rich, M.M.8
Sumner, C.J.9
-
69
-
-
0034652102
-
A role for nuclear PTEN in neuronal differentiation
-
Lachyankar, M. B., Sultana, N., Schonhoff, C. M., Mitra, P., Poluha, W., Lambert, S., Quesenberry, P. J., and Litofsky, N. S., Recht, L. D., Nabi, R. et al. (2000). A role for nuclear PTEN in neuronal differentiation. J. Neurosci. Off. J. Soc. Neurosci. 20, 1404-1413.
-
(2000)
J. Neurosci. Off. J. Soc. Neurosci.
, vol.20
, pp. 1404-1413
-
-
Lachyankar, M.B.1
Sultana, N.2
Schonhoff, C.M.3
Mitra, P.4
Poluha, W.5
Lambert, S.6
Quesenberry, P.J.7
Litofsky, N.S.8
Recht, L.D.9
Nabi, R.10
-
70
-
-
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., and Pham, L. T., Butchbach, M. E. R., Zhang, H. L., and Monani, U. R., Coovert, D. D., Gavrilina, T. O., Xing, L., Bassell, G. J. and Burghes, A. H. M. (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.R.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.M.10
-
71
-
-
0035979253
-
Regulation of myostatin activity and muscle growth
-
Lee, S.-J. and McPherron, A. C. (2001). Regulation of myostatin activity and muscle growth. Proc. Natl. Acad. Sci. USA 98, 9306-9311.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 9306-9311
-
-
Lee, S.-J.1
McPherron, A.C.2
-
72
-
-
84874261774
-
Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency
-
Lee, E.-J., De Winter, J. M., Buck, D., Jasper, J. R., Malik, F. I., Labeit, S., Ottenheijm, C. A. and Granzier, H. (2013). Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency. PLoS ONE 8, e55861.
-
(2013)
PLoS ONE
, vol.8
, pp. e55861
-
-
Lee, E.-J.1
De Winter, J.M.2
Buck, D.3
Jasper, J.R.4
Malik, F.I.5
Labeit, S.6
Ottenheijm, C.A.7
Granzier, H.8
-
73
-
-
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. and Zeviani, M. (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
-
74
-
-
0037215682
-
PTEN regulation of neural development and CNS stem cells
-
Li, L., Liu, F. and Ross, A. H. (2003). PTEN regulation of neural development and CNS stem cells. J. Cell. Biochem. 88, 24-28.
-
(2003)
J. Cell. Biochem.
, vol.88
, pp. 24-28
-
-
Li, L.1
Liu, F.2
Ross, A.H.3
-
75
-
-
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
-
76
-
-
83455213467
-
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
-
Ling, K. K. Y., and 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.Y.1
Gibbs, R.M.2
Feng, Z.3
Ko, C.-P.4
-
77
-
-
84894641836
-
A retinoic acid-enhanced, multicellular human blood-brain barrier model derived from stem cell sources
-
Lippmann, E. S., Al-Ahmad, A., Azarin, S. M., Palecek, S. P. and Shusta, E. V. (2014). A retinoic acid-enhanced, multicellular human blood-brain barrier model derived from stem cell sources. Sci. Rep. 4, 4160.
-
(2014)
Sci. Rep.
, vol.4
, pp. 4160
-
-
Lippmann, E.S.1
Al-Ahmad, A.2
Azarin, S.M.3
Palecek, S.P.4
Shusta, E.V.5
-
78
-
-
84961291841
-
PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy
-
Little, D., and Valori, C. F., Mutsaers, C. A., Bennett, E. J., Wyles, M., Sharrack, B., Shaw, P.J., Gillingwater, T. H., Azzouz, M. and Ning, K.(2015). PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy. Mol. Ther. J. Am. Soc. Gene Ther. 23, 270-277.
-
(2015)
Mol. Ther. J. Am. Soc. Gene Ther.
, vol.23
, pp. 270-277
-
-
Little, D.1
Valori, C.F.2
Mutsaers, C.A.3
Bennett, E.J.4
Wyles, M.5
Sharrack, B.6
Shaw, P.J.7
Gillingwater, T.H.8
Azzouz, M.9
Ning, K.10
-
79
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu, Q. and Dreyfuss, G. (1996). A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15, 3555-3565.
-
(1996)
EMBO J.
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
80
-
-
84995904520
-
Activin receptor type IIB inhibition improves muscle phenotype and function in a mouse model of spinal muscular atrophy
-
Liu, M., and Hammers, D. W., Barton, E. R. and Sweeney, H. L. (2016). Activin receptor type IIB inhibition improves muscle phenotype and function in a mouse model of spinal muscular atrophy. PLoS ONE 11, e0166803.
-
(2016)
PLoS ONE
, vol.11
, pp. e0166803
-
-
Liu, M.1
Hammers, D.W.2
Barton, E.R.3
Sweeney, H.L.4
-
81
-
-
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
-
82
-
-
84867555865
-
An SMN-dependent U12 splicing event essential for motor circuit function
-
Lotti, F., and Imlach, W. L., Saieva, L., Beck, E. S., and Hao, L. T., Li, D. K., Jiao, W., Mentis, G. Z., and Beattie, C. E., McCabe, B. D. et al. (2012). An SMN-dependent U12 splicing event essential for motor circuit function. Cell 151, 440-454.
-
(2012)
Cell
, vol.151
, pp. 440-454
-
-
Lotti, F.1
Imlach, W.L.2
Saieva, L.3
Beck, E.S.4
Hao, L.T.5
Li, D.K.6
Jiao, W.7
Mentis, G.Z.8
Beattie, C.E.9
McCabe, B.D.10
-
83
-
-
0031065475
-
Rho family small GTP-binding proteins in growth cone signalling
-
Luo, L., Jan, L. Y. and Jan, Y.-N. (1997). Rho family small GTP-binding proteins in growth cone signalling. Curr. Opin. Neurobiol. 7, 81-86.
-
(1997)
Curr. Opin. Neurobiol.
, vol.7
, pp. 81-86
-
-
Luo, L.1
Jan, L.Y.2
Jan, Y.-N.3
-
84
-
-
85027420207
-
Myostatin inhibition for neuromuscular disorders: Defining the good candidate
-
Mariot, V., Joubert, R., Hourde, C., Servais, L., and Hanna, M. G., Maisonobe, T., Muntoni, F., Feasson, L., and Panse, R. L., Benvensite, O. et al. (2017). Myostatin inhibition for neuromuscular disorders: defining the good candidate. Neuromuscul. Disord. 27, S8.
-
(2017)
Neuromuscul. Disord.
, vol.27
, pp. S8
-
-
Mariot, V.1
Joubert, R.2
Hourde, C.3
Servais, L.4
Hanna, M.G.5
Maisonobe, T.6
Muntoni, F.7
Feasson, L.8
Panse, R.L.9
Benvensite, O.10
-
85
-
-
70149104463
-
The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation
-
Martínez-Hernández, R., Soler-Botija, C., Also, E., Alias, L., Caselles, L., Gich, I., Bernal, S. and Tizzano, E. F. (2009). The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation. J. Neuropathol. Exp. Neurol. 68, 474-481.
-
(2009)
J. Neuropathol. Exp. Neurol.
, vol.68
, pp. 474-481
-
-
Martínez-Hernández, R.1
Soler-Botija, C.2
Also, E.3
Alias, L.4
Caselles, L.5
Gich, I.6
Bernal, S.7
Tizzano, E.F.8
-
86
-
-
84940099951
-
Plastin 3 expression does not modify spinal muscular atrophy severity in the Δ7 SMA mouse
-
McGovern, V. L., Massoni-Laporte, A., Wang, X., and Le, T. T., Le, H. T., Beattie, C. E., Rich, M. M. and Burghes, A. H. M. (2015). Plastin 3 expression does not modify spinal muscular atrophy severity in the Δ7 SMA mouse. PLoS ONE 10, e0132364.
-
(2015)
PLoS ONE
, vol.10
, pp. e0132364
-
-
McGovern, V.L.1
Massoni-Laporte, A.2
Wang, X.3
Le, T.T.4
Le, H.T.5
Beattie, C.E.6
Rich, M.M.7
Burghes, A.H.M.8
-
87
-
-
0031010050
-
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member
-
McPherron, A. C., Lawler, A. M. and Lee, S.-J. (1997). Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. Nature 387, 83-90.
-
(1997)
Nature
, vol.387
, pp. 83-90
-
-
McPherron, A.C.1
Lawler, A.M.2
Lee, S.-J.3
-
88
-
-
0042887389
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
-
McWhorter, M. L., and Monani, U. R., Burghes, A. H. M. and Beattie, C. E. (2003). Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J. Cell Biol. 162, 919-931.
-
(2003)
J. Cell Biol.
, vol.162
, pp. 919-931
-
-
McWhorter, M.L.1
Monani, U.R.2
Burghes, A.H.M.3
Beattie, C.E.4
-
89
-
-
0032718045
-
The caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
-
Miguel-Aliaga, I., Culetto, E., and Walker, D. S., Baylis, H. A., Sattelle, D. B. and Davies, K. E. (1999). The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Hum. Mol. Genet. 8, 2133-2143.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2133-2143
-
-
Miguel-Aliaga, I.1
Culetto, E.2
Walker, D.S.3
Baylis, H.A.4
Sattelle, D.B.5
Davies, K.E.6
-
90
-
-
0034624252
-
Disruption of SMN function by ectopic expression of the human SMN gene in drosophila
-
Miguel-Aliaga, I., Chan, Y. B., Davies, K. E. and van den Heuvel, M. (2000). Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. FEBS Lett. 486, 99-102.
-
(2000)
FEBS Lett.
, vol.486
, pp. 99-102
-
-
Miguel-Aliaga, I.1
Chan, Y.B.2
Davies, K.E.3
Van den Heuvel, M.4
-
91
-
-
84929256498
-
Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy
-
Miller, N., Feng, Z., Edens, B. M., Yang, B., Shi, H., Sze, C. C., and Hong, B. T., Su, S. C., Cantu, J. A., Topczewski, J. et al. (2015). Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. J. Neurosci. Off. J. Soc. Neurosci. 35, 6038-6050.
-
(2015)
J. Neurosci. Off. J. Soc. Neurosci.
, vol.35
, pp. 6038-6050
-
-
Miller, N.1
Feng, Z.2
Edens, B.M.3
Yang, B.4
Shi, H.5
Sze, C.C.6
Hong, B.T.7
Su, S.C.8
Cantu, J.A.9
Topczewski, J.10
-
92
-
-
0033794501
-
Polyarginine enters cells more efficiently than other polycationic homopolymers
-
Mitchell, D. J., and Kim, D. T., Steinman, L., Fathman, C. G. and Rothbard, J. B. (2000). Polyarginine enters cells more efficiently than other polycationic homopolymers. J. Pept. Res. Off. J. Am. Pept. Soc. 56, 318-325.
-
(2000)
J. Pept. Res. Off. J. Am. Pept. Soc.
, vol.56
, pp. 318-325
-
-
Mitchell, D.J.1
Kim, D.T.2
Steinman, L.3
Fathman, C.G.4
Rothbard, J.B.5
-
93
-
-
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., and Parsons, D. W., Andreassi, C., Le, T. T., Jablonka, S., Schrank, B., Rossoll, W., Rossol, 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
Rossol, W.10
-
94
-
-
0027057672
-
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)
-
Munsat, T. L. and Davies, K. E. (1992). International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul. Disord. NMD 2, 423-428.
-
(1992)
Neuromuscul. Disord. NMD
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
95
-
-
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., and 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
-
96
-
-
80054880080
-
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
-
Mutsaers, C. A., and Wishart, T. M., Lamont, D. J., Riessland, M., Schreml, J., and Comley, L. H., Murray, L. M., Parson, S. H., Lochmüller, H., Wirth, B. et al. (2011). Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum. Mol. Genet. 20, 4334-4344.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 4334-4344
-
-
Mutsaers, C.A.1
Wishart, T.M.2
Lamont, D.J.3
Riessland, M.4
Schreml, J.5
Comley, L.H.6
Murray, L.M.7
Parson, S.H.8
Lochmüller, H.9
Wirth, B.10
-
97
-
-
81855166084
-
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
-
Nölle, A., Zeug, A., van Bergeijk, J., Tönges, L., Gerhard, R., Brinkmann, H., Al Rayes, S., Hensel, N., Schill, Y., Apkhazava, D. et al. (2011). The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. Hum. Mol. Genet. 20, 4865-4878.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 4865-4878
-
-
Nölle, A.1
Zeug, A.2
Van Bergeijk, J.3
Tönges, L.4
Gerhard, R.5
Brinkmann, H.6
Al Rayes, S.7
Hensel, N.8
Schill, Y.9
Apkhazava, D.10
-
98
-
-
42549088649
-
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
-
Oprea, G.E., Kröber, S., and McWhorter, M. L., Rossoll, W., Müller, S., Krawczak, M., and Bassell, G. J., Beattie, C. E. and Wirth, B. (2008). Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320, 524-527.
-
(2008)
Science
, vol.320
, pp. 524-527
-
-
Oprea, G.E.1
Kröber, S.2
McWhorter, M.L.3
Rossoll, W.4
Müller, S.5
Krawczak, M.6
Bassell, G.J.7
Beattie, C.E.8
Wirth, B.9
-
99
-
-
12344273726
-
The blood-brain barrier: Bottleneck in brain drug development
-
Pardridge, W. M. (2005). The blood-brain barrier: bottleneck in brain drug development. NeuroRx J. Am. Soc. Exp. Neurother. 2, 3-14.
-
(2005)
NeuroRx J. Am. Soc. Exp. Neurother.
, vol.2
, pp. 3-14
-
-
Pardridge, W.M.1
-
100
-
-
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., and 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
-
101
-
-
0034604713
-
The survival motor neuron protein of schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms
-
Paushkin, S., Charroux, B., Abel, L., Perkinson, R. A., Pellizzoni, L. and Dreyfuss, G. (2000). The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms. J. Biol. Chem. 275, 23841-23846.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 23841-23846
-
-
Paushkin, S.1
Charroux, B.2
Abel, L.3
Perkinson, R.A.4
Pellizzoni, L.5
Dreyfuss, G.6
-
102
-
-
84968580878
-
Classification of spinal muscular atrophies
-
Pearn, J. (1980). Classification of spinal muscular atrophies. Lancet Lond. Engl. 1, 919-922.
-
(1980)
Lancet Lond. Engl.
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
103
-
-
85019659898
-
Discovery of a novel class of survival motor neuron 2 splicing modifiers for the treatment of spinal muscular atrophy
-
Pinard, E., Green, L., Reutlinger, M., Weetall, M., and Naryshkin, N. A., Baird, J., Chen, K. S., and Paushkin, S. V., Metzger, F. and Ratni, H. (2017). Discovery of a novel class of survival motor neuron 2 splicing modifiers for the treatment of spinal muscular atrophy. J. Med. Chem. 60, 4444-4457.
-
(2017)
J. Med. Chem.
, vol.60
, pp. 4444-4457
-
-
Pinard, E.1
Green, L.2
Reutlinger, M.3
Weetall, M.4
Naryshkin, N.A.5
Baird, J.6
Chen, K.S.7
Paushkin, S.V.8
Metzger, F.9
Ratni, H.10
-
104
-
-
84947967882
-
Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy
-
Powis, R. A. and Gillingwater, T. H. (2016). Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy. J. Anat. 228, 443-451.
-
(2016)
J. Anat.
, vol.228
, pp. 443-451
-
-
Powis, R.A.1
Gillingwater, T.H.2
-
105
-
-
85055597996
-
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy
-
Powis, R. A., Karyka, E., Boyd, P., Côme, J., and Jones, R. A., Zheng, Y., Szunyogova, E., Groen, E. J. N., Hunter, G., Thomson, D. et al. (2016). Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight 1, e87908.
-
(2016)
JCI Insight
, vol.1
, pp. e87908
-
-
Powis, R.A.1
Karyka, E.2
Boyd, P.3
Côme, J.4
Jones, R.A.5
Zheng, Y.6
Szunyogova, E.7
Groen, E.J.N.8
Hunter, G.9
Thomson, D.10
-
106
-
-
84863114222
-
A drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects
-
Praveen, K., Wen, Y. and Matera, A. G. (2012). A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. Cell Rep. 1, 624-631.
-
(2012)
Cell Rep.
, vol.1
, pp. 624-631
-
-
Praveen, K.1
Wen, Y.2
Matera, A.G.3
-
107
-
-
84939631300
-
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in drosophila
-
Praveen, K., Wen, Y., Gray, K. M., and Noto, J. J., Patlolla, A. R., Van Duyne, G. D. and Matera, A. G. (2014). SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in drosophila. PLoS Genet. 10, e1004489.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004489
-
-
Praveen, K.1
Wen, Y.2
Gray, K.M.3
Noto, J.J.4
Patlolla, A.R.5
Van Duyne, G.D.6
Matera, A.G.7
-
108
-
-
84978731539
-
Specific correction of alternative survival motor neuron 2 splicing by small molecules: Discovery of a potential novel medicine to treat spinal muscular atrophy
-
Ratni, H., and Karp, G. M., Weetall, M., Naryshkin, N. A., and Paushkin, S. V., Chen, K. S., McCarthy, K. D., Qi, H., Turpoff, A., Woll, M. G. et al. (2016). Specific correction of alternative survival motor neuron 2 splicing by small molecules: discovery of a potential novel medicine to treat spinal muscular atrophy. J. Med. Chem. 59, 6086-6100.
-
(2016)
J. Med. Chem.
, vol.59
, pp. 6086-6100
-
-
Ratni, H.1
Karp, G.M.2
Weetall, M.3
Naryshkin, N.A.4
Paushkin, S.V.5
Chen, K.S.6
McCarthy, K.D.7
Qi, H.8
Turpoff, A.9
Woll, M.G.10
-
109
-
-
84858081392
-
Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of spinal muscular atrophy
-
Rindt, H., and Buckley, D. M., Vale, S. M., Krogman, M., Rose, F. F., Garcia, M. L. and Lorson, C. L. (2012). Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy. Neuromuscul. Disord. NMD 22, 277-285.
-
(2012)
Neuromuscul. Disord. NMD
, vol.22
, pp. 277-285
-
-
Rindt, H.1
Buckley, D.M.2
Vale, S.M.3
Krogman, M.4
Rose, F.F.5
Garcia, M.L.6
Lorson, C.L.7
-
110
-
-
0035073894
-
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to homo sapiens
-
Rochette, C. F., Gilbert, N. and Simard, L. R. (2001). SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 108, 255-266.
-
(2001)
Hum. Genet.
, vol.108
, pp. 255-266
-
-
Rochette, C.F.1
Gilbert, N.2
Simard, L.R.3
-
111
-
-
62849108016
-
Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease
-
Rodino-Klapac, L. R., Haidet, A. M., Kota, J., Handy, C., Kaspar, B. K. and Mendell, J. R. (2009). Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve 39, 283-296.
-
(2009)
Muscle Nerve
, vol.39
, pp. 283-296
-
-
Rodino-Klapac, L.R.1
Haidet, A.M.2
Kota, J.3
Handy, C.4
Kaspar, B.K.5
Mendell, J.R.6
-
112
-
-
84903452732
-
Genetic background drives transcriptional variation in human induced pluripotent stem cells
-
Rouhani, F., Kumasaka, N., de Brito, M. C., Bradley, A., Vallier, L. and Gaffney, D. (2014). Genetic background drives transcriptional variation in human induced pluripotent stem cells. PLoS Genet. 10, e1004432.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004432
-
-
Rouhani, F.1
Kumasaka, N.2
De Brito, M.C.3
Bradley, A.4
Vallier, L.5
Gaffney, D.6
-
113
-
-
0035044661
-
The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III
-
Rudnik-Schöneborn, S., Hausmanowa-Petrusewicz, I., Borkowska, J. and Zerres, K. (2001). The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur. Neurol. 45, 174-181.
-
(2001)
Eur. Neurol.
, vol.45
, pp. 174-181
-
-
Rudnik-Schöneborn, S.1
Hausmanowa-Petrusewicz, I.2
Borkowska, J.3
Zerres, K.4
-
114
-
-
84862777453
-
Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases
-
Russell, A. J., and Hartman, J. J., Hinken, A. C., Muci, A. R., Kawas, R., Driscoll, L., Godinez, G., Lee, K. H., Marquez, D., Browne, W. F. et al. (2012). Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases. Nat. Med. 18, 452-455.
-
(2012)
Nat. Med.
, vol.18
, pp. 452-455
-
-
Russell, A.J.1
Hartman, J.J.2
Hinken, A.C.3
Muci, A.R.4
Kawas, R.5
Driscoll, L.6
Godinez, G.7
Lee, K.H.8
Marquez, D.9
Browne, W.F.10
-
115
-
-
0033561655
-
Differential expression of MMAC/PTEN in glioblastoma multiforme: Relationship to localization and prognosis
-
Sano, T., Lin, H., Chen, X., Langford, L. A., Koul, D., and Bondy, M. L., Hess, K. R., Myers, J. N., and Hong, Y. K., Yung, W. K. et al. (1999). Differential expression of MMAC/PTEN in glioblastoma multiforme: relationship to localization and prognosis. Cancer Res. 59, 1820-1824.
-
(1999)
Cancer Res.
, vol.59
, pp. 1820-1824
-
-
Sano, T.1
Lin, H.2
Chen, X.3
Langford, L.A.4
Koul, D.5
Bondy, M.L.6
Hess, K.R.7
Myers, J.N.8
Hong, Y.K.9
Yung, W.K.10
-
116
-
-
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., Götz, R., Gunnersen, J.M., and 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
Götz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
Sendtner, M.7
-
117
-
-
77957729453
-
Cardiac defects contribute to the pathology of spinal muscular atrophy models
-
Shababi, M., Habibi, J., Yang, H. T., and 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
-
118
-
-
32044445564
-
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
-
[Epub ahead of print]
-
Singh, N. K., and 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. doi:10.1038/gt.2017.34 [Epub ahead of print].
-
(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
-
119
-
-
85019738267
-
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
-
[Epub ahead of print]
-
Singh, N. N., and Howell, M. D., Androphy, E. J. and Singh, R. N. (2017). How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. Gene Ther. doi:10.1038/gt.2017.34 [Epub ahead of print].
-
(2017)
Gene Ther.
-
-
Singh, N.N.1
Howell, M.D.2
Androphy, E.J.3
Singh, R.N.4
-
120
-
-
84892981582
-
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy
-
Sleigh, J. N., Barreiro-Iglesias, A., Oliver, P. L., Biba, A., Becker, T., Davies, K. E., Becker, C. G. and Talbot, K. (2014). Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum. Mol. Genet. 23, 855-869.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 855-869
-
-
Sleigh, J.N.1
Barreiro-Iglesias, A.2
Oliver, P.L.3
Biba, A.4
Becker, T.5
Davies, K.E.6
Becker, C.G.7
Talbot, K.8
-
121
-
-
84859651967
-
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy
-
Somers, E., Stencel, Z., Wishart, T. M., Gillingwater, T. H. and Parson, S. H. (2012). Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy. Neuromuscul. Disord. NMD 22, 435-442.
-
(2012)
Neuromuscul. Disord. NMD
, vol.22
, pp. 435-442
-
-
Somers, E.1
Stencel, Z.2
Wishart, T.M.3
Gillingwater, T.H.4
Parson, S.H.5
-
122
-
-
84958122602
-
Vasculardefects and spinal cord hypoxia in spinal muscular atrophy
-
Somers, E., and Lees, R. D., Hoban, K., Sleigh, J. N., Zhou, H., Muntoni, F., Talbot, K., Gillingwater, T.H. and Parson, S.H. (2016). Vasculardefects and spinal cord hypoxia in spinal muscular atrophy. Ann. Neurol. 79, 217-230.
-
(2016)
Ann. Neurol.
, vol.79
, pp. 217-230
-
-
Somers, E.1
Lees, R.D.2
Hoban, K.3
Sleigh, J.N.4
Zhou, H.5
Muntoni, F.6
Talbot, K.7
Gillingwater, T.H.8
Parson, S.H.9
-
123
-
-
56549096584
-
Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions
-
Stevens, L., Bastide, B., Maurage, C. A., Dupont, E., Montel, V., Cieniewski-Bernard, C., Cuisset, J. M., Vallee, L. and Mounier, Y. (2008). Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions. Neuropathol. Appl. Neurobiol. 34, 659-670.
-
(2008)
Neuropathol. Appl. Neurobiol.
, vol.34
, pp. 659-670
-
-
Stevens, L.1
Bastide, B.2
Maurage, C.A.3
Dupont, E.4
Montel, V.5
Cieniewski-Bernard, C.6
Cuisset, J.M.7
Vallee, L.8
Mounier, Y.9
-
124
-
-
77957939276
-
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
-
Stratigopoulos, G., Lanzano, P., Deng, L., Guo, J., Kaufmann, P., Darras, B., Finkel, R., Tawil, R., McDermott, M. P., Martens, W. et al. (2010). Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch. Neurol. 67, 1252-1256.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 1252-1256
-
-
Stratigopoulos, G.1
Lanzano, P.2
Deng, L.3
Guo, J.4
Kaufmann, P.5
Darras, B.6
Finkel, R.7
Tawil, R.8
McDermott, M.P.9
Martens, W.10
-
125
-
-
68749088558
-
Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice
-
Sumner, C. J., and Wee, C. D., Warsing, L. C., Choe, D. W., and Ng, A. S., Lutz, C. and Wagner, K. R. (2009). Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum. Mol. Genet. 18, 3145-3152.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3145-3152
-
-
Sumner, C.J.1
Wee, C.D.2
Warsing, L.C.3
Choe, D.W.4
Ng, A.S.5
Lutz, C.6
Wagner, K.R.7
-
126
-
-
84989842794
-
Survival motor neuron (SMN) protein is required for normal mouse liver development
-
Szunyogova, E., Zhou, H., Maxwell, G. K., and Powis, R. A., Francesco, M., Gillingwater, T. H. and Parson, S. H. (2016). Survival motor neuron (SMN) protein is required for normal mouse liver development. Sci. Rep. 6, 34635.
-
(2016)
Sci. Rep.
, vol.6
, pp. 34635
-
-
Szunyogova, E.1
Zhou, H.2
Maxwell, G.K.3
Powis, R.A.4
Francesco, M.5
Gillingwater, T.H.6
Parson, S.H.7
-
127
-
-
0033575287
-
PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway
-
Tamura, M., Gu, J., Danen, E. H. J., Takino, T., Miyamoto, S. and Yamada, K. M. (1999). PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway. J. Biol. Chem. 274, 20693-20703.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 20693-20703
-
-
Tamura, M.1
Gu, J.2
Danen, E.H.J.3
Takino, T.4
Miyamoto, S.5
Yamada, K.M.6
-
128
-
-
84991038022
-
Survival of motor neurone protein is required for normal postnatal development of the spleen
-
Thomson, A. K., Somers, E., Powis, R. A., and Shorrock, H. K., Murphy, K., Swoboda, K. J., Gillingwater, T. H. and Parson, S. H. (2017). Survival of motor neurone protein is required for normal postnatal development of the spleen. J. Anat. 230, 337-346.
-
(2017)
J. Anat.
, vol.230
, pp. 337-346
-
-
Thomson, A.K.1
Somers, E.2
Powis, R.A.3
Shorrock, H.K.4
Murphy, K.5
Swoboda, K.J.6
Gillingwater, T.H.7
Parson, S.H.8
-
129
-
-
74349088517
-
Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6
-
Towne, C., and Schneider, B. L., Kieran, D., Redmond, D. E. and Aebischer, P. (2010). Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6. Gene Ther. 17, 141-146.
-
(2010)
Gene Ther.
, vol.17
, pp. 141-146
-
-
Towne, C.1
Schneider, B.L.2
Kieran, D.3
Redmond, D.E.4
Aebischer, P.5
-
130
-
-
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., and 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
-
131
-
-
54449098255
-
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
-
Walker, M. P., and Rajendra, T. K., Saieva, L., Fuentes, J. L., Pellizzoni, L. and Matera, A. G. (2008). SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum. Mol. Genet. 17, 3399-3410.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3399-3410
-
-
Walker, M.P.1
Rajendra, T.K.2
Saieva, L.3
Fuentes, J.L.4
Pellizzoni, L.5
Matera, A.G.6
-
132
-
-
0037008467
-
Survival motor neuron protein in the nucleolus of mammalian neurons
-
Wehner, K. A., Ayala, L., Kim, Y., Young, P. J., and Hosler, B. A., Lorson, C. L., Baserga, S. J. and Francis, J. W. (2002). Survival motor neuron protein in the nucleolus of mammalian neurons. Brain Res. 945, 160-173.
-
(2002)
Brain Res.
, vol.945
, pp. 160-173
-
-
Wehner, K.A.1
Ayala, L.2
Kim, Y.3
Young, P.J.4
Hosler, B.A.5
Lorson, C.L.6
Baserga, S.J.7
Francis, J.W.8
-
133
-
-
0035370526
-
Spliceosomal UsnRNP biogenesis, structure and function
-
Will, C. L. and Luhrmann, R. (2001). Spliceosomal UsnRNP biogenesis, structure and function. Curr. Opin. Cell Biol. 13, 290-301.
-
(2001)
Curr. Opin. Cell Biol.
, vol.13
, pp. 290-301
-
-
Will, C.L.1
Luhrmann, R.2
-
134
-
-
84897548490
-
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
-
Wishart, T. M., and Mutsaers, C. A., Riessland, M., Reimer, M. M., Hunter, G., Hannam, M.L., and Eaton, S. L., Fuller, H. R., Roche, S.L., Somers, E. et al. (2014). Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J. Clin. Invest. 124, 1821-1834.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 1821-1834
-
-
Wishart, T.M.1
Mutsaers, C.A.2
Riessland, M.3
Reimer, M.M.4
Hunter, G.5
Hannam, M.L.6
Eaton, S.L.7
Fuller, H.R.8
Roche, S.L.9
Somers, E.10
-
135
-
-
84893301832
-
Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
-
Yanyan, C., Yujin, Q., Jinli, B., Yuwei, J., Hong, W. and Fang, S. (2014). Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. J. Hum. Genet. 59, 24-27.
-
(2014)
J. Hum. Genet.
, vol.59
, pp. 24-27
-
-
Yanyan, C.1
Yujin, Q.2
Jinli, B.3
Yuwei, J.4
Hong, W.5
Fang, S.6
-
136
-
-
84949033576
-
Repeated low doses of morpholino antisense oligomer: An intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response
-
Zhou, H., Meng, J., Marrosu, E., Janghra, N., Morgan, J. and Muntoni, F. (2015). Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response. Hum. Mol. Genet. 24, 6265-6277.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 6265-6277
-
-
Zhou, H.1
Meng, J.2
Marrosu, E.3
Janghra, N.4
Morgan, J.5
Muntoni, F.6
|