-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
10.1016/0092-8674(95)90460-3. 7813012
-
Identification and characterization of a spinal muscular atrophy-determining gene. S Lefebvre L Burglen S Reboullet O Clermont P Burlet L Viollet B Benichou C Cruaud P Millasseau M Zeviani,, et al. Cell 1995 80 155 165 10.1016/0092-8674(95)90460-3 7813012
-
(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
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
DOI 10.1038/71709
-
A mouse model for spinal muscular atrophy. HM Hsieh-Li JG Chang YJ Jong MH Wu NM Wang CH Tsai H Li, Nat Genet 2000 24 66 70 10.1038/71709 10615130 (Pubitemid 30041423)
-
(2000)
Nature Genetics
, vol.24
, Issue.1
, 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
-
3
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. UR Monani M Sendtner DD Coovert DW Parsons C Andreassi TT Le S Jablonka B Schrank W Rossoll TW Prior,, et al. Hum Mol Genet 2000 9 333 339 10.1093/hmg/9.3.333 10655541 (Pubitemid 30098725)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.3
, 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
Rossol, W.9
Prior, T.W.10
Morris, G.E.11
Burghes, A.H.M.12
-
4
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
DOI 10.1097/00125817-200201000-00004
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. MD Mailman JW Heinz AC Papp PJ Snyder MS Sedra B Wirth AH Burghes TW Prior, Genet Med 2002 4 20 26 10.1097/00125817-200201000-00004 11839954 (Pubitemid 44698460)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.1
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
Burghes, A.H.M.7
Prior, T.W.8
-
5
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
DOI 10.1093/hmg/8.7.1177
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. UR Monani CL Lorson DW Parsons TW Prior EJ Androphy AH Burghes JD McPherson, Hum Mol Genet 1999 8 1177 1183 10.1093/hmg/8.7.1177 10369862 (Pubitemid 29328985)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.7
, 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.M.6
McPherson, J.D.7
-
7
-
-
20144385587
-
SMNΔ7, 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
-
DOI 10.1093/hmg/ddi078
-
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. TT Le LT Pham ME Butchbach HL Zhang UR Monani DD Coovert TO Gavrilina L Xing GJ Bassell AH Burghes, Hum Mol Genet 2005 14 845 857 10.1093/hmg/ddi078 15703193 (Pubitemid 40403280)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.6
, 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
-
9
-
-
0035073894
-
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
-
DOI 10.1007/s004390100473
-
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. CF Rochette N Gilbert LR Simard, Hum Genet 2001 108 255 266 10.1007/s004390100473 11354640 (Pubitemid 32293674)
-
(2001)
Human Genetics
, vol.108
, Issue.3
, pp. 255-266
-
-
Rochette, C.F.1
Gilbert, N.2
Simard, L.R.3
-
10
-
-
0037421228
-
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
-
DOI 10.1083/jcb.200208079
-
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. UR Monani MT Pastore TO Gavrilina S Jablonka TT Le C Andreassi JM DiCocco C Lorson EJ Androphy M Sendtner,, et al. J Cell Biol 2003 160 41 52 10.1083/jcb.200208079 12515823 (Pubitemid 36091715)
-
(2003)
Journal of Cell Biology
, vol.160
, Issue.1
, pp. 41-52
-
-
Monani, U.R.1
Pastore, M.T.2
Gavrilina, T.O.3
Jablonka, S.4
Le, T.T.5
Andreassi, C.6
DiCocco, J.M.7
Lorson, C.8
Androphy, E.J.9
Sendtner, M.10
Podell, M.11
Burghes, A.H.M.12
-
11
-
-
52449095571
-
Modeling spinal muscular atrophy in Drosophila
-
10.1371/journal.pone.0003209. 18791638
-
Modeling spinal muscular atrophy in Drosophila. HC Chang DN Dimlich T Yokokura A Mukherjee MW Kankel A Sen V Sridhar TA Fulga AC Hart D Van Vactor S Artavanis-Tsakonas, PLoS ONE 2008 3 3209 10.1371/journal.pone.0003209 18791638
-
(2008)
PLoS ONE
, vol.3
, pp. 53209
-
-
Chang, H.C.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
Artavanis-Tsakonas, S.11
-
12
-
-
70350754456
-
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
-
10.1093/hmg/ddp310. 19592581
-
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. KL Boon S Xiao ML McWhorter T Donn E Wolf-Saxon MT Bohnsack CB Moens CE Beattie, Hum Mol Genet 2009 18 3615 3625 10.1093/hmg/ddp310 19592581
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3615-3625
-
-
Boon, K.L.1
Xiao, S.2
McWhorter, M.L.3
Donn, T.4
Wolf-Saxon, E.5
Bohnsack, M.T.6
Moens, C.B.7
Beattie, C.E.8
-
13
-
-
0042887389
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
-
DOI 10.1083/jcb.200303168
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. ML McWhorter UR Monani AH Burghes CE Beattie, J Cell Biol 2003 162 919 931 10.1083/jcb.200303168 12952942 (Pubitemid 37087731)
-
(2003)
Journal of Cell Biology
, vol.162
, Issue.5
, pp. 919-931
-
-
McWhorter, M.L.1
Monani, U.R.2
Burghes, A.H.M.3
Beattie, C.E.4
-
14
-
-
76549115901
-
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy
-
10.1007/s10048-009-0200-6. 19517146
-
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. Q Ymlahi-Ouazzani JB O E Paillard C Ballagny A Chesneau A Jadaud A Mazabraud N Pollet, Neurogenetics 2010 11 27 40 10.1007/s10048-009-0200-6 19517146
-
(2010)
Neurogenetics
, vol.11
, pp. 27-40
-
-
Ymlahi-Ouazzani, Q.1
B, O.J.2
Paillard, E.3
Ballagny, C.4
Chesneau, A.5
Jadaud, A.6
Mazabraud, A.7
Pollet, N.8
-
16
-
-
50049121395
-
Application of heat shock promoter in transgenic zebrafish
-
10.1111/j.1440-169X.2008.01038.x. 18430027
-
Application of heat shock promoter in transgenic zebrafish. W Shoji M Sato-Maeda, Dev Growth Differ 2008 50 401 406 10.1111/j.1440-169X.2008.01038.x 18430027
-
(2008)
Dev Growth Differ
, vol.50
, pp. 401-406
-
-
Shoji, W.1
Sato-Maeda, M.2
-
17
-
-
32044445564
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
-
DOI 10.1128/MCB.26.4.1333-1346.2006
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. NK Singh NN Singh EJ Androphy RN Singh, Mol Cell Biol 2006 26 1333 1346 10.1128/MCB.26.4.1333-1346. 2006 16449646 (Pubitemid 43202560)
-
(2006)
Molecular and Cellular Biology
, vol.26
, Issue.4
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
18
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
10.1101/gad.1941310. 20624852
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Y Hua K Sahashi G Hung F Rigo MA Passini CF Bennett AR Krainer, Genes Dev 2010 24 1634 1644 10.1101/gad.1941310 20624852
-
(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
-
20
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMN(T) and SMN(C) gene copy number
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. PE McAndrew DW Parsons LR Simard C Rochette PN Ray JR Mendell TW Prior AH Burghes, Am J Hum Genet 1997 60 1411 1422 10.1086/515465 9199562 (Pubitemid 27258073)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, 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.M.8
-
21
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
DOI 10.1086/338627
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. M Feldkotter V Schwarzer R Wirth TF Wienker B Wirth, Am J Hum Genet 2002 70 358 368 10.1086/338627 11791208 (Pubitemid 34112291)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.2
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
23
-
-
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
-
DOI 10.1073/pnas.94.18.9920
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. B Schrank R Gotz JM Gunnersen JM Ure KV Toyka AG Smith M Sendtner, Proc Natl Acad Sci USA 1997 94 9920 9925 10.1073/pnas.94.18.9920 9275227 (Pubitemid 27408166)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.18
, pp. 9920-9925
-
-
Schrank, B.1
Gotz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
Sendtner, M.7
-
24
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
10.1093/hmg/ddn156. 18492800
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. S Kariya GH Park Y Maeno-Hikichi O Leykekhman C Lutz MS Arkovitz LT Landmesser UR Monani, Hum Mol Genet 2008 17 2552 2569 10.1093/hmg/ddn156 18492800
-
(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
-
25
-
-
58849103600
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
-
10.1523/JNEUROSCI.4434-08.2009. 19158308
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. L Kong X Wang DW Choe M Polley BG Burnett M Bosch-Marce JW Griffin MM Rich CJ Sumner, J Neurosci 2009 29 842 851 10.1523/JNEUROSCI.4434-08.2009 19158308
-
(2009)
J Neurosci
, vol.29
, pp. 842-851
-
-
Kong, L.1
Wang, X.2
Choe, D.W.3
Polley, M.4
Burnett, B.G.5
Bosch-Marce, M.6
Griffin, J.W.7
Rich, M.M.8
Sumner, C.J.9
-
26
-
-
50849110114
-
Embryonic motor axon development in the severe SMA mouse
-
10.1093/hmg/ddn189. 18603534
-
Embryonic motor axon development in the severe SMA mouse. VL McGovern TO Gavrilina CE Beattie AH Burghes, Hum Mol Genet 2008 17 2900 2909 10.1093/hmg/ddn189 18603534
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2900-2909
-
-
McGovern, V.L.1
Gavrilina, T.O.2
Beattie, C.E.3
Burghes, A.H.4
-
27
-
-
33747067161
-
Modern mosaic analysis in the zebrafish
-
DOI 10.1016/j.ymeth.2006.02.002, PII S1046202306000648
-
Modern mosaic analysis in the zebrafish. A Carmany-Rampey CB Moens, Methods Cell Biol 2006 39 228 238 (Pubitemid 44209328)
-
(2006)
Methods
, vol.39
, Issue.3
, pp. 228-238
-
-
Carmany-Rampey, A.1
Moens, C.B.2
-
29
-
-
12144273121
-
In vivo drug discovery in the zebrafish
-
DOI 10.1038/nrd1606
-
In vivo drug discovery in the zebrafish. LI Zon RT Peterson, Nat Rev Drug Discov 2005 4 35 44 10.1038/nrd1606 15688071 (Pubitemid 40109588)
-
(2005)
Nature Reviews Drug Discovery
, vol.4
, Issue.1
, pp. 35-44
-
-
Zon, L.I.1
Peterson, R.T.2
-
31
-
-
34347216389
-
Transgenesis in fish: Efficient selection of transgenic fish by co-injection with a fluorescent reporter construct
-
10.1038/nprot.2006.165. 17406394
-
Transgenesis in fish: efficient selection of transgenic fish by co-injection with a fluorescent reporter construct. M Rembold K Lahiri NS Foulkes J Wittbrodt, Nature Protocols 2006 1 1133 1139 10.1038/nprot.2006.165 17406394
-
(2006)
Nature Protocols
, vol.1
, pp. 1133-1139
-
-
Rembold, M.1
Lahiri, K.2
Foulkes, N.S.3
Wittbrodt, J.4
-
32
-
-
77956496676
-
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
-
10.1242/dmm.005538. 20504969
-
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. T Ramesh AN Lyon RH Pineda C Wang PM Janssen BD Canan AH Burghes CE Beattie, Dis Model Mech 2010 3 652 662 10.1242/dmm.005538 20504969
-
(2010)
Dis Model Mech
, vol.3
, pp. 652-662
-
-
Ramesh, T.1
Lyon, A.N.2
Pineda, R.H.3
Wang, C.4
Janssen, P.M.5
Canan, B.D.6
Burghes, A.H.7
Beattie, C.E.8
-
33
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
10.1038/nbt.1610. 20190738
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. KD Foust X Wang VL McGovern L Braun AK Bevan AM Haidet TT Le PR Morales MM Rich AH Burghes BK Kaspar, Nat Biotechnol 2010 28 271 274 10.1038/nbt.1610 20190738
-
(2010)
Nat Biotechnol
, vol.28
, pp. 271-274
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
Braun, L.4
Bevan, A.K.5
Haidet, A.M.6
Le, T.T.7
Morales, P.R.8
Rich, M.M.9
Burghes, A.H.10
Kaspar, B.K.11
-
34
-
-
0034121384
-
Laser-induced gene expression in specific cells of transgenic zebrafish
-
Laser-induced gene expression in specific cells of transgenic zebrafish. MC Halloran M Sato-Maeda JT Warren F Su Z Lele PH Krone JY Kuwada W Shoji, Development 2000 127 1953 1960 10751183 (Pubitemid 30311798)
-
(2000)
Development
, vol.127
, Issue.9
, pp. 1953-1960
-
-
Halloran, M.C.1
Sato-Maeda, M.2
Warren Jr., J.T.3
Su, F.4
Lele, Z.5
Krone, P.H.6
Kuwada, J.Y.7
Shoji, W.8
-
35
-
-
50049121395
-
Application of heat shock promoter in transgenic zebrafish
-
10.1111/j.1440-169X.2008.01038.x. 18430027
-
Application of heat shock promoter in transgenic zebrafish. W Shoji M Sato-Maeda, Dev Growth Differ 2008 50 401 406 10.1111/j.1440-169X.2008.01038.x 18430027
-
(2008)
Dev Growth Differ
, vol.50
, pp. 401-406
-
-
Shoji, W.1
Sato-Maeda, M.2
|