-
1
-
-
84915829052
-
Population-based incidence and prevalence of facioscapulohumeral dystrophy
-
Deenen, J.C., Arnts, H., van der Maarel, S.M., Padberg, G.W., Verschuuren, J.J., Bakker, E., Weinreich, S.S., Verbeek, A.L. and van Engelen, B.G. (2014) Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology, 83, 1056-1059.
-
(2014)
Neurology
, vol.83
, pp. 1056-1059
-
-
Deenen, J.C.1
Arnts, H.2
van der Maarel, S.M.3
Padberg, G.W.4
Verschuuren, J.J.5
Bakker, E.6
Weinreich, S.S.7
Verbeek, A.L.8
van Engelen, B.G.9
-
2
-
-
53049110907
-
Facioscapulohumeral muscular dystrophy
-
Tawil, R. (2008) Facioscapulohumeral muscular dystrophy. Neurotherapeutics, 5, 601-606.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 601-606
-
-
Tawil, R.1
-
3
-
-
0019955804
-
Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome
-
Taylor, D.A., Carroll, J.E., Smith, M.E., Johnson, M.O., Johnston, G.P. and Brooke, M.H. (1982) Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome. Ann. Neurol., 12, 395-398.
-
(1982)
Ann. Neurol.
, vol.12
, pp. 395-398
-
-
Taylor, D.A.1
Carroll, J.E.2
Smith, M.E.3
Johnson, M.O.4
Johnston, G.P.5
Brooke, M.H.6
-
4
-
-
0022414098
-
Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness
-
Gurwin, E.B., Fitzsimons, R.B., Sehmi, K.S. and Bird, A.C. (1985) Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. Arch. Ophthalmol., 103, 1695-1700.
-
(1985)
Arch. Ophthalmol.
, vol.103
, pp. 1695-1700
-
-
Gurwin, E.B.1
Fitzsimons, R.B.2
Sehmi, K.S.3
Bird, A.C.4
-
5
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld, P.G., Lemmers, R.J., Sandkuijl, L.A., Enthoven, L., Winokur, S.T., Bakels, F., Padberg, G.W., van Ommen, G.J., Frants, R.R. and van der Maarel, S.M. (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet., 35, 315-317.
-
(2003)
Nat. Genet.
, vol.35
, pp. 315-317
-
-
van Overveld, P.G.1
Lemmers, R.J.2
Sandkuijl, L.A.3
Enthoven, L.4
Winokur, S.T.5
Bakels, F.6
Padberg, G.W.7
van Ommen, G.J.8
Frants, R.R.9
van der Maarel, S.M.10
-
6
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contractiondependent and contraction-independent FSHD
-
de Greef, J.C., Lemmers, R.J., van Engelen, B.G., Sacconi, S., Venance, S.L., Frants, R.R., Tawil, R. and van der Maarel, S.M. (2009) Common epigenetic changes of D4Z4 in contractiondependent and contraction-independent FSHD. Hum. Mutat., 30, 1449-1459.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1449-1459
-
-
de Greef, J.C.1
Lemmers, R.J.2
van Engelen, B.G.3
Sacconi, S.4
Venance, S.L.5
Frants, R.R.6
Tawil, R.7
van der Maarel, S.M.8
-
7
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
-
Zeng, W., de Greef, J.C., Chen, Y.Y., Chien, R., Kong, X., Gregson, H.C.,Winokur, S.T., Pyle, A., Robertson, K.D., Schmiesing, J.A. et al. (2009) Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet., 5, e1000559.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000559
-
-
Zeng, W.1
de Greef, J.C.2
Chen, Y.Y.3
Chien, R.4
Kong, X.5
Gregson, H.C.6
Winokur, S.T.7
Pyle, A.8
Robertson, K.D.9
Schmiesing, J.A.10
-
8
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga, C., Hewitt, J.E., Sandkuijl, L.A., Clark, L.N.,Wright, T.J., Dauwerse, H.G., Gruter, A.M., Hofker, M.H., Moerer, P., Williamson, R. et al. (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet., 2, 26-30.
-
(1992)
Nat. Genet.
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
Gruter, A.M.7
Hofker, M.H.8
Moerer, P.9
Williamson, R.10
-
9
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
Lemmers, R.J., Tawil, R., Petek, L.M., Balog, J., Block, G.J., Santen, G.W., Amell, A.M., van der Vliet, P.J., Almomani, R., Straasheijm, K.R. et al. (2012) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat. Genet., 44, 1370-1374.
-
(2012)
Nat. Genet.
, vol.44
, pp. 1370-1374
-
-
Lemmers, R.J.1
Tawil, R.2
Petek, L.M.3
Balog, J.4
Block, G.J.5
Santen, G.W.6
Amell, A.M.7
van der Vliet, P.J.8
Almomani, R.9
Straasheijm, K.R.10
-
10
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
Gabriels, J., Beckers, M.C., Ding, H., De Vriese, A., Plaisance, S., van der Maarel, S.M., Padberg, G.W., Frants, R.R., Hewitt, J.E., Collen, D. et al. (1999) Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene, 236, 25-32.
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriels, J.1
Beckers, M.C.2
Ding, H.3
De Vriese, A.4
Plaisance, S.5
van der Maarel, S.M.6
Padberg, G.W.7
Frants, R.R.8
Hewitt, J.E.9
Collen, D.10
-
11
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers, R.J., van der Vliet, P.J., Klooster, R., Sacconi, S., Camano, P., Dauwerse, J.G., Snider, L., Straasheijm, K.R., van Ommen, G.J., Padberg, G.W. et al. (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science, 329, 1650-1653.
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.1
van der Vliet, P.J.2
Klooster, R.3
Sacconi, S.4
Camano, P.5
Dauwerse, J.G.6
Snider, L.7
Straasheijm, K.R.8
van Ommen, G.J.9
Padberg, G.W.10
-
12
-
-
67249104052
-
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
-
Snider, L., Asawachaicharn, A., Tyler, A.E., Geng, L.N., Petek, L.M., Maves, L., Miller, D.G., Lemmers, R.J., Winokur, S.T., Tawil, R. et al. (2009) RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum. Mol. Genet., 18, 2414-2430.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2414-2430
-
-
Snider, L.1
Asawachaicharn, A.2
Tyler, A.E.3
Geng, L.N.4
Petek, L.M.5
Maves, L.6
Miller, D.G.7
Lemmers, R.J.8
Winokur, S.T.9
Tawil, R.10
-
13
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy
-
Geng, L.N., Yao, Z., Snider, L., Fong, A.P., Cech, J.N., Young, J.M., van der Maarel, S.M., Ruzzo, W.L., Gentleman, R.C., Tawil, R. et al. (2012) DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev. Cell, 22, 38-51.
-
(2012)
Dev. Cell
, vol.22
, pp. 38-51
-
-
Geng, L.N.1
Yao, Z.2
Snider, L.3
Fong, A.P.4
Cech, J.N.5
Young, J.M.6
van der Maarel, S.M.7
Ruzzo, W.L.8
Gentleman, R.C.9
Tawil, R.10
-
14
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski, D., Xu, Z., Gang, E.J., Galindo, C.L., Liu, M., Simsek, T., Garner, H.R., Agha-Mohammadi, S., Tassin, A., Coppee, F. et al. (2008) An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J., 27, 2766-2779.
-
(2008)
EMBO J.
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
Xu, Z.2
Gang, E.J.3
Galindo, C.L.4
Liu, M.5
Simsek, T.6
Garner, H.R.7
Agha-Mohammadi, S.8
Tassin, A.9
Coppee, F.10
-
15
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
Kowaljow, V., Marcowycz, A., Ansseau, E., Conde, C.B., Sauvage, S., Matteotti, C., Arias, C., Corona, E.D., Nunez, N.G., Leo, O. et al. (2007) The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul. Disord., 17, 611-623.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
Conde, C.B.4
Sauvage, S.5
Matteotti, C.6
Arias, C.7
Corona, E.D.8
Nunez, N.G.9
Leo, O.10
-
16
-
-
79953292473
-
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
-
Wallace, L.M., Garwick, S.E., Mei, W., Belayew, A., Coppee, F., Ladner, K.J., Guttridge, D., Yang, J. and Harper, S.Q. (2011) DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann. Neurol., 69, 540-552.
-
(2011)
Ann. Neurol.
, vol.69
, pp. 540-552
-
-
Wallace, L.M.1
Garwick, S.E.2
Mei, W.3
Belayew, A.4
Coppee, F.5
Ladner, K.J.6
Guttridge, D.7
Yang, J.8
Harper, S.Q.9
-
17
-
-
84922547186
-
Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene
-
Dandapat, A., Bosnakovski, D., Hartweck, L.M., Arpke, R.W., Baltgalvis, K.A., Vang, D., Baik, J., Darabi, R., Perlingeiro, R.C., Hamra, F.K. et al. (2014) Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene. Cell Rep., 8, 1484-1496.
-
(2014)
Cell Rep.
, vol.8
, pp. 1484-1496
-
-
Dandapat, A.1
Bosnakovski, D.2
Hartweck, L.M.3
Arpke, R.W.4
Baltgalvis, K.A.5
Vang, D.6
Baik, J.7
Darabi, R.8
Perlingeiro, R.C.9
Hamra, F.K.10
-
18
-
-
78449250235
-
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
-
Snider, L., Geng, L.N., Lemmers, R.J., Kyba, M.,Ware, C.B., Nelson, A.M., Tawil, R., Filippova, G.N., van der Maarel, S.M., Tapscott, S.J. et al. (2010) Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet., 6, e1001181.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1001181
-
-
Snider, L.1
Geng, L.N.2
Lemmers, R.J.3
Kyba, M.4
Ware, C.B.5
Nelson, A.M.6
Tawil, R.7
Filippova, G.N.8
van der Maarel, S.M.9
Tapscott, S.J.10
-
19
-
-
84859991523
-
Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production
-
Block, G.J., Petek, L.M., Narayanan, D., Amell, A.M., Moore, J.M., Rabaia, N.A., Tyler, A., van der Maarel, S.M., Tawil, R., Filippova, G.N. et al. (2012) Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. PloS one, 7, e35532.
-
(2012)
PloS one
, vol.7
, pp. e35532
-
-
Block, G.J.1
Petek, L.M.2
Narayanan, D.3
Amell, A.M.4
Moore, J.M.5
Rabaia, N.A.6
Tyler, A.7
van der Maarel, S.M.8
Tawil, R.9
Filippova, G.N.10
-
20
-
-
0035090082
-
Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?
-
Sandri, M., El Meslemani, A.H., Sandri, C., Schjerling, P., Vissing, K., Andersen, J.L., Rossini, K., Carraro, U. and Angelini, C. (2001) Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment? J. Neuropathol. Exp. Neurol., 60, 302-312.
-
(2001)
J. Neuropathol. Exp. Neurol.
, vol.60
, pp. 302-312
-
-
Sandri, M.1
El Meslemani, A.H.2
Sandri, C.3
Schjerling, P.4
Vissing, K.5
Andersen, J.L.6
Rossini, K.7
Carraro, U.8
Angelini, C.9
-
21
-
-
84887539531
-
Wnt/beta-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
-
Block, G.J., Narayanan, D., Amell, A.M., Petek, L.M., Davidson, K.C., Bird, T.D., Tawil, R., Moon, R.T. and Miller, D.G. (2013) Wnt/beta-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Hum. Mol. Genet., 22, 4661-4672.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4661-4672
-
-
Block, G.J.1
Narayanan, D.2
Amell, A.M.3
Petek, L.M.4
Davidson, K.C.5
Bird, T.D.6
Tawil, R.7
Moon, R.T.8
Miller, D.G.9
-
22
-
-
0015413121
-
Myosin synthesis in cultures of differentiating chicken embryo skeletal muscle
-
Bruce Paterson, R.S. (1972) Myosin synthesis in cultures of differentiating chicken embryo skeletal muscle. Dev. Biol., 29, 113-138.
-
(1972)
Dev. Biol.
, vol.29
, pp. 113-138
-
-
Bruce Paterson, R.S.1
-
23
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
-
Jones, T.I., Chen, J.C., Rahimov, F., Homma, S., Arashiro, P., Beermann, M.L., King, O.D., Miller, J.B., Kunkel, L.M., Emerson, C.P. Jr. et al. (2012) Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum. Mol. Genet., 21, 4419-4430.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4419-4430
-
-
Jones, T.I.1
Chen, J.C.2
Rahimov, F.3
Homma, S.4
Arashiro, P.5
Beermann, M.L.6
King, O.D.7
Miller, J.B.8
Kunkel, L.M.9
Emerson, C.P.10
-
24
-
-
84915829051
-
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
-
Yao, Z., Snider, L., Balog, J., Lemmers, R.J., Van Der Maarel, S.M., Tawil, R. and Tapscott, S.J. (2014) DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Hum. Mol. Genet., 23, 5342-5352.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 5342-5352
-
-
Yao, Z.1
Snider, L.2
Balog, J.3
Lemmers, R.J.4
Van Der Maarel, S.M.5
Tawil, R.6
Tapscott, S.J.7
-
25
-
-
67649202800
-
GAGE: generally applicable gene set enrichment for pathway analysis
-
Luo, W., Friedman, M.S., Shedden, K., Hankenson, K.D. and Woolf, P.J. (2009) GAGE: generally applicable gene set enrichment for pathway analysis. BMC Bioinformatics, 10, 161.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 161
-
-
Luo, W.1
Friedman, M.S.2
Shedden, K.3
Hankenson, K.D.4
Woolf, P.J.5
-
26
-
-
85006326562
-
A feedback loop between nonsense-mediated decay and the retrogene in facioscapulohumeral muscular dystrophy
-
Feng, Q., Snider, L., Jagannathan, S., Tawil, R., van der Maarel, S.M., Tapscott, S.J. and Bradley, R.K. (2015) A feedback loop between nonsense-mediated decay and the retrogene in facioscapulohumeral muscular dystrophy. eLife, 4, e04996.
-
(2015)
eLife
, vol.4
, pp. e04996
-
-
Feng, Q.1
Snider, L.2
Jagannathan, S.3
Tawil, R.4
van der Maarel, S.M.5
Tapscott, S.J.6
Bradley, R.K.7
-
27
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A.V., Timchenko, L.T. and Cooper, T.A. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
28
-
-
0028940741
-
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation
-
Wang, J., Pegoraro, E., Menegazzo, E., Gennarelli, M., Hoop, R.C., Angelini, C. and Hoffman, E.P. (1995) Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum. Mol. Genet., 4, 599-606.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 599-606
-
-
Wang, J.1
Pegoraro, E.2
Menegazzo, E.3
Gennarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
29
-
-
0034806973
-
Molecular basis for impaired muscle differentiation in myotonic dystrophy
-
Timchenko, N.A., Iakova, P., Cai, Z.J., Smith, J.R. and Timchenko, L.T. (2001) Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol. Cell. Biol., 21, 6927-6938.
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 6927-6938
-
-
Timchenko, N.A.1
Iakova, P.2
Cai, Z.J.3
Smith, J.R.4
Timchenko, L.T.5
-
30
-
-
84925936842
-
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype
-
Puppo, F., Dionnet, E., Gaillard, M.C., Gaildrat, P., Castro, C., Vovan, C., Bertaux, K., Bernard, R., Attarian, S., Goto, K. et al. (2015) Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Hum. Mutat., 36, 443-453.
-
(2015)
Hum. Mutat.
, vol.36
, pp. 443-453
-
-
Puppo, F.1
Dionnet, E.2
Gaillard, M.C.3
Gaildrat, P.4
Castro, C.5
Vovan, C.6
Bertaux, K.7
Bernard, R.8
Attarian, S.9
Goto, K.10
-
31
-
-
84879657086
-
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy
-
Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebosse, M., Roche, S., Geng, L. et al. (2013) Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet., 9, e1003550.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003550
-
-
Caruso, N.1
Herberth, B.2
Bartoli, M.3
Puppo, F.4
Dumonceaux, J.5
Zimmermann, A.6
Denadai, S.7
Lebosse, M.8
Roche, S.9
Geng, L.10
-
32
-
-
78649714014
-
Analysis and design of RNA sequencing experiments for identifying isoform regulation
-
Katz, Y., Wang, E.T., Airoldi, E.M. and Burge, C.B. (2010) Analysis and design of RNA sequencing experiments for identifying isoform regulation. Nat. Methods, 7, 1009-1015.
-
(2010)
Nat. Methods
, vol.7
, pp. 1009-1015
-
-
Katz, Y.1
Wang, E.T.2
Airoldi, E.M.3
Burge, C.B.4
-
33
-
-
84876821220
-
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
-
Krom, Y.D., Thijssen, P.E., Young, J.M., den Hamer, B., Balog, J., Yao, Z., Maves, L., Snider, L., Knopp, P., Zammit, P.S. et al. (2013) Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet., 9, e1003415.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003415
-
-
Krom, Y.D.1
Thijssen, P.E.2
Young, J.M.3
Den Hamer, B.4
Balog, J.5
Yao, Z.6
Maves, L.7
Snider, L.8
Knopp, P.9
Zammit, P.S.10
-
34
-
-
84929049022
-
Emerging preclinical animal models for FSHD
-
Lek, A., Rahimov, F., Jones, P.L. and Kunkel, L.M. (2015) Emerging preclinical animal models for FSHD. Trends Mol. Med., 21, 295-306.
-
(2015)
Trends Mol. Med.
, vol.21
, pp. 295-306
-
-
Lek, A.1
Rahimov, F.2
Jones, P.L.3
Kunkel, L.M.4
-
35
-
-
80055040201
-
The FSHD atrophic myotube phenotype is caused by DUX4 expression
-
Vanderplanck, C., Ansseau, E., Charron, S., Stricwant, N., Tassin, A., Laoudj-Chenivesse, D., Wilton, S.D., Coppee, F. and Belayew, A. (2011) The FSHD atrophic myotube phenotype is caused by DUX4 expression. PloS one, 6, e26820.
-
(2011)
PloS one
, vol.6
, pp. e26820
-
-
Vanderplanck, C.1
Ansseau, E.2
Charron, S.3
Stricwant, N.4
Tassin, A.5
Laoudj-Chenivesse, D.6
Wilton, S.D.7
Coppee, F.8
Belayew, A.9
-
36
-
-
84939654856
-
Correlation between low FAT1 expression and early affected muscle in FSHD
-
Mariot, V., Roche, S., Hourde, C., Portilho, D., Sacconi, S., Puppo, F., Duguez, S., Rameau, P., Caruso, N., Delezoide, A.L. et al. (2015) Correlation between low FAT1 expression and early affected muscle in FSHD. Ann. Neurol., DOI: 10.1002/ ana.24446.
-
(2015)
Ann. Neurol.
-
-
Mariot, V.1
Roche, S.2
Hourde, C.3
Portilho, D.4
Sacconi, S.5
Puppo, F.6
Duguez, S.7
Rameau, P.8
Caruso, N.9
Delezoide, A.L.10
-
37
-
-
0031710033
-
A third-generation lentivirus vector with a conditional packaging system
-
Dull, T., Zufferey, R., Kelly, M., Mandel, R.J., Nguyen, M., Trono, D. and Naldini, L. (1998) A third-generation lentivirus vector with a conditional packaging system. J. Virol., 72, 8463-8471.
-
(1998)
J. Virol.
, vol.72
, pp. 8463-8471
-
-
Dull, T.1
Zufferey, R.2
Kelly, M.3
Mandel, R.J.4
Nguyen, M.5
Trono, D.6
Naldini, L.7
-
38
-
-
84924629414
-
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
-
Love, M.I., Huber,W. and Anders, S. (2014) Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol., 15, 550.
-
(2014)
Genome Biol.
, vol.15
, pp. 550
-
-
Love, M.I.1
Huber, W.2
Anders, S.3
-
39
-
-
0032919364
-
KEGG: Kyoto Encyclopedia of Genes and Genomes
-
Ogata, H., Goto, S., Sato, K., Fujibuchi, W., Bono, H. and Kanehisa, M. (1999) KEGG: Kyoto Encyclopedia of Genes and Genomes. Nucleic Acids Res., 27, 29-34.
-
(1999)
Nucleic Acids Res.
, vol.27
, pp. 29-34
-
-
Ogata, H.1
Goto, S.2
Sato, K.3
Fujibuchi, W.4
Bono, H.5
Kanehisa, M.6
-
40
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead, B., Trapnell, C., Pop, M. and Salzberg, S.L. (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol., 10, R25.
-
(2009)
Genome Biol.
, vol.10
, pp. R25
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.L.4
-
41
-
-
77951947707
-
ChIPpeakAnno: a bioconductor package to annotate ChIP-seq and ChIP-chip data
-
Zhu, L.J., Gazin, C., Lawson, N.D., Pages, H., Lin, S.M., Lapointe, D.S. and Green, M.R. (2010) ChIPpeakAnno: a bioconductor package to annotate ChIP-seq and ChIP-chip data. BMC Bioinformatics, 11, 237.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 237
-
-
Zhu, L.J.1
Gazin, C.2
Lawson, N.D.3
Pages, H.4
Lin, S.M.5
Lapointe, D.S.6
Green, M.R.7
-
42
-
-
84930195617
-
Quantitative visualization of alternative exon expression from RNA-seq data
-
Katz,Y.,Wang, E.T., Silterra, J., Schwartz, S.,Wong,B.,Thorvaldsdottir, H., Robinson, J.T.,Mesirov, J.P., Airoldi, E.M. and Burge, C.B. (2015) Quantitative visualization of alternative exon expression from RNA-seq data. Bioinformatics, 31, 2400-2402.
-
(2015)
Bioinformatics
, vol.31
, pp. 2400-2402
-
-
Katz, Y.1
Wang, E.T.2
Silterra, J.3
Schwartz, S.4
Wong, B.5
Thorvaldsdottir, H.6
Robinson, J.T.7
Mesirov, J.P.8
Airoldi, E.M.9
Burge, C.B.10
|