-
1
-
-
77949318270
-
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation
-
Ansseau E., Laoudj-Chenivesse D., Marcowycz A., Tassin A., Vanderplanck C., Sauvage S., Barro M., Mahieu I., Leroy A., Leclercq I., Mainfroid V., Figlewicz D., Mouly V., Butler-Browne G., Belayew A., Coppee F. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS ONE 2009, 4:e7482.
-
(2009)
PLoS ONE
, vol.4
-
-
Ansseau, E.1
Laoudj-Chenivesse, D.2
Marcowycz, A.3
Tassin, A.4
Vanderplanck, C.5
Sauvage, S.6
Barro, M.7
Mahieu, I.8
Leroy, A.9
Leclercq, I.10
Mainfroid, V.11
Figlewicz, D.12
Mouly, V.13
Butler-Browne, G.14
Belayew, A.15
Coppee, F.16
-
2
-
-
65549085668
-
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers
-
Arashiro P., Eisenberg I., Kho A.T., Cerqueira A.M., Canovas M., Silva H.C., Pavanello R.C., Verjovski-Almeida S., Kunkel L.M., Zatz M. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc. Natl. Acad. Sci. USA 2009, 106:6220-6225.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 6220-6225
-
-
Arashiro, P.1
Eisenberg, I.2
Kho, A.T.3
Cerqueira, A.M.4
Canovas, M.5
Silva, H.C.6
Pavanello, R.C.7
Verjovski-Almeida, S.8
Kunkel, L.M.9
Zatz, M.10
-
3
-
-
0028811462
-
Phalloidin unzips nebulin from thin filaments in skeletal myofibrils
-
Ao X., Lehrer S.S. Phalloidin unzips nebulin from thin filaments in skeletal myofibrils. J. Cell Sci. 1995, 108(Pt 11):3397-3403.
-
(1995)
J. Cell Sci.
, vol.108
, Issue.PART 11
, pp. 3397-3403
-
-
Ao, X.1
Lehrer, S.S.2
-
4
-
-
0028073676
-
Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation
-
Arber S., Halder G., Caroni P. Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation. Cell 1994, 79:221-231.
-
(1994)
Cell
, vol.79
, pp. 221-231
-
-
Arber, S.1
Halder, G.2
Caroni, P.3
-
5
-
-
69149087644
-
Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation
-
Bodega B., Ramirez G.D., Grasser F., Cheli S., Brunelli S., Mora M., Meneveri R., Marozzi A., Mueller S., Battaglioli E., Ginelli E. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 2009, 7:41.
-
(2009)
BMC Biol.
, vol.7
, pp. 41
-
-
Bodega, B.1
Ramirez, G.D.2
Grasser, F.3
Cheli, S.4
Brunelli, S.5
Mora, M.6
Meneveri, R.7
Marozzi, A.8
Mueller, S.9
Battaglioli, E.10
Ginelli, E.11
-
6
-
-
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., Belayew A., Perlingeiro R.R., Kyba M. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008, 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
Belayew, A.11
Perlingeiro, R.R.12
Kyba, M.13
-
8
-
-
55949083347
-
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
-
de Greef J.C., Frants R.R., van der Maarel S.M. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat. Res. 2008, 647:94-102.
-
(2008)
Mutat. Res.
, vol.647
, pp. 94-102
-
-
de Greef, J.C.1
Frants, R.R.2
van der Maarel, S.M.3
-
9
-
-
0023202070
-
Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications
-
Fitzsimons R.B., Gurwin E.B., Bird A.C. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987, 110(Pt 3):631-648.
-
(1987)
Brain
, vol.110
, Issue.PART 3
, pp. 631-648
-
-
Fitzsimons, R.B.1
Gurwin, E.B.2
Bird, A.C.3
-
10
-
-
0021969171
-
Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels
-
Gieron M.A., Korthals J.K., Kousseff B.G. Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Am. J. Med. Genet. 1985, 22:143-147.
-
(1985)
Am. J. Med. Genet.
, vol.22
, pp. 143-147
-
-
Gieron, M.A.1
Korthals, J.K.2
Kousseff, B.G.3
-
11
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3kb 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., Belayew A. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3kb element. Gene 1999, 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
Belayew, A.11
-
12
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D., D'Antona G., Moggio M., Prelle A., Zecca C., Adami R., Angeletti B., Ciscato P., Pellegrino M.A., Bottinelli R., Green M.R., Tupler R. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006, 439:973-977.
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
Adami, R.6
Angeletti, B.7
Ciscato, P.8
Pellegrino, M.A.9
Bottinelli, R.10
Green, M.R.11
Tupler, R.12
-
13
-
-
0032541318
-
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates
-
Grewal P.K., Todd L.C., van der Maarel S., Frants R.R., Hewitt J.E. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. Gene 1998, 216:13-19.
-
(1998)
Gene
, vol.216
, pp. 13-19
-
-
Grewal, P.K.1
Todd, L.C.2
van der Maarel, S.3
Frants, R.R.4
Hewitt, J.E.5
-
14
-
-
66349093652
-
Muscular dystrophy candidate gene FRG1 is critical for muscle development
-
Hanel M.L., Wuebbles R.D., Jones P.L. Muscular dystrophy candidate gene FRG1 is critical for muscle development. Dev. Dyn. 2009, 238:1502-1512.
-
(2009)
Dev. Dyn.
, vol.238
, pp. 1502-1512
-
-
Hanel, M.L.1
Wuebbles, R.D.2
Jones, P.L.3
-
15
-
-
70450275779
-
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
-
Klooster R., Straasheijm K., Shah B., Sowden J., Frants R., Thornton C., Tawil R., van der Maarel S. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur. J. Hum. Genet. 2009, 17:1615-1624.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1615-1624
-
-
Klooster, R.1
Straasheijm, K.2
Shah, B.3
Sowden, J.4
Frants, R.5
Thornton, C.6
Tawil, R.7
van der Maarel, S.8
-
16
-
-
0020017627
-
Preparation of myofibrils
-
Knight P.J., Trinick J.A. Preparation of myofibrils. Methods Enzymol. 1982, 85(Pt B):9-12.
-
(1982)
Methods Enzymol.
, vol.85
, Issue.PART B
, pp. 9-12
-
-
Knight, P.J.1
Trinick, J.A.2
-
17
-
-
0037169537
-
Identification of the nucleocytoplasmic shuttling sequence of heterogeneous nuclear ribonucleoprotein D-like protein JKTBP and its interaction with mRNA
-
Kawamura H., Tomozoe Y., Akagi T., Kamei D., Ochiai M., Yamada M. Identification of the nucleocytoplasmic shuttling sequence of heterogeneous nuclear ribonucleoprotein D-like protein JKTBP and its interaction with mRNA. J. Biol. Chem. 2002, 277:2732-2739.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 2732-2739
-
-
Kawamura, H.1
Tomozoe, Y.2
Akagi, T.3
Kamei, D.4
Ochiai, M.5
Yamada, M.6
-
18
-
-
0037184992
-
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
-
Knoll R., Hoshijima M., Hoffman H.M., Person V., Lorenzen-Schmidt I., Bang M.L., Hayashi T., Shiga N., Yasukawa H., Schaper W., McKenna W., Yokoyama M., Schork N.J., Omens J.H., McCulloch A.D., Kimura A., Gregorio C.C., Poller W., Schaper J., Schultheiss H.P., Chien K.R. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002, 111:943-955.
-
(2002)
Cell
, vol.111
, pp. 943-955
-
-
Knoll, R.1
Hoshijima, M.2
Hoffman, H.M.3
Person, V.4
Lorenzen-Schmidt, I.5
Bang, M.L.6
Hayashi, T.7
Shiga, N.8
Yasukawa, H.9
Schaper, W.10
McKenna, W.11
Yokoyama, M.12
Schork, N.J.13
Omens, J.H.14
McCulloch, A.D.15
Kimura, A.16
Gregorio, C.C.17
Poller, W.18
Schaper, J.19
Schultheiss, H.P.20
Chien, K.R.21
more..
-
19
-
-
0025836092
-
Genetic counselling in facioscapulohumeral muscular dystrophy
-
Lunt P.W., Harper P.S. Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 1991, 28:655-664.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 655-664
-
-
Lunt, P.W.1
Harper, P.S.2
-
20
-
-
0029038951
-
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
-
Lunt P.W., Jardine P.E., Koch M.C., Maynard J., Osborn M., Williams M., Harper P.S., Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum. Mol. Genet. 1995, 4:951-958.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
Maynard, J.4
Osborn, M.5
Williams, M.6
Harper, P.S.7
Upadhyaya, M.8
-
21
-
-
77951145598
-
Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin bundling protein associated with muscle attachment sites
-
Liu Q., Jones T.I., Tang V.W., Brieher W.M., Jones P.L. Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin bundling protein associated with muscle attachment sites. J. Cell Sci. 2010, 123:1116-1123.
-
(2010)
J. Cell Sci.
, vol.123
, pp. 1116-1123
-
-
Liu, Q.1
Jones, T.I.2
Tang, V.W.3
Brieher, W.M.4
Jones, P.L.5
-
22
-
-
77949656794
-
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei
-
Masny P.S., Chan O.Y., de Greef J.C., Bengtsson U., Ehrlich M., Tawil R., Lock L.F., Hewitt J.E., Stocksdale J., Martin J.H., van der Maarel S.M., Winokur S.T. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. Eur. J. Hum. Genet. 2010, 18:448-456.
-
(2010)
Eur. J. Hum. Genet.
, vol.18
, pp. 448-456
-
-
Masny, P.S.1
Chan, O.Y.2
de Greef, J.C.3
Bengtsson, U.4
Ehrlich, M.5
Tawil, R.6
Lock, L.F.7
Hewitt, J.E.8
Stocksdale, J.9
Martin, J.H.10
van der Maarel, S.M.11
Winokur, S.T.12
-
23
-
-
38449083521
-
Sarcomere assembly in C. elegans muscle
-
Moerman D.G., Williams B.D. Sarcomere assembly in C. elegans muscle. WormBook 2006, 1-16.
-
(2006)
WormBook
, pp. 1-16
-
-
Moerman, D.G.1
Williams, B.D.2
-
24
-
-
33947377423
-
Muscle diseases: the muscular dystrophies
-
McNally E.M., Pytel P. Muscle diseases: the muscular dystrophies. Annu. Rev. Pathol. 2007, 2:87-109.
-
(2007)
Annu. Rev. Pathol.
, vol.2
, pp. 87-109
-
-
McNally, E.M.1
Pytel, P.2
-
25
-
-
38749087964
-
Formation of a Tap/NXF1 homotypic complex is mediated through the amino-terminal domain of Tap and enhances interaction with nucleoporins
-
Matzat L.H., Berberoglu S., Levesque L. Formation of a Tap/NXF1 homotypic complex is mediated through the amino-terminal domain of Tap and enhances interaction with nucleoporins. Mol. Biol. Cell 2008, 19:327-338.
-
(2008)
Mol. Biol. Cell
, vol.19
, pp. 327-338
-
-
Matzat, L.H.1
Berberoglu, S.2
Levesque, L.3
-
26
-
-
0028326114
-
Rearrangement of mRNAs for costamere proteins during costamere development in cultured skeletal muscle from chicken
-
Morris E.J., Fulton A.B. Rearrangement of mRNAs for costamere proteins during costamere development in cultured skeletal muscle from chicken. J. Cell Sci. 1994, 107(Pt 3):377-386.
-
(1994)
J. Cell Sci.
, vol.107
, Issue.PART 3
, pp. 377-386
-
-
Morris, E.J.1
Fulton, A.B.2
-
27
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
Osborne R.J., Welle S., Venance S.L., Thornton C.A., Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2007, 68:569-577.
-
(2007)
Neurology
, vol.68
, pp. 569-577
-
-
Osborne, R.J.1
Welle, S.2
Venance, S.L.3
Thornton, C.A.4
Tawil, R.5
-
28
-
-
79551680480
-
Prevalence of Rare Diseases: Bibliographic data
-
[cited November]. Available from
-
Prevalence of Rare Diseases: Bibliographic data. Orphanet Report Series: Rare Diseases collection 2009 [cited November]. Available from: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.
-
(2009)
Orphanet Report Series: Rare Diseases collection
-
-
-
29
-
-
0004164234
-
Facioscapulohumeral Disease [thesis]
-
Leiden, the Netherlands: Leiden University.
-
Padberg, G.W., 1982. Facioscapulohumeral Disease [thesis]. Leiden, the Netherlands: Leiden University.
-
(1982)
-
-
Padberg, G.W.1
-
30
-
-
18444409048
-
Identification of a novel population of muscle stem cells in mice: potential for muscle regeneration
-
Qu-Petersen Z., Deasy B., Jankowski R., Ikezawa M., Cummins J., Pruchnic R., Mytinger J., Cao B., Gates C., Wernig A., Huard J. Identification of a novel population of muscle stem cells in mice: potential for muscle regeneration. J. Cell Biol. 2002, 157:851-864.
-
(2002)
J. Cell Biol.
, vol.157
, pp. 851-864
-
-
Qu-Petersen, Z.1
Deasy, B.2
Jankowski, R.3
Ikezawa, M.4
Cummins, J.5
Pruchnic, R.6
Mytinger, J.7
Cao, B.8
Gates, C.9
Wernig, A.10
Huard, J.11
-
31
-
-
8744240156
-
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
-
Rijkers T., Deidda G., van Koningsbruggen S., van Geel M., Lemmers R.J., van Deutekom J.C., Figlewicz D., Hewitt J.E., Padberg G.W., Frants R.R., van der Maarel S.M. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J. Med. Genet. 2004, 41:826-836.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 826-836
-
-
Rijkers, T.1
Deidda, G.2
van Koningsbruggen, S.3
van Geel, M.4
Lemmers, R.J.5
van Deutekom, J.C.6
Figlewicz, D.7
Hewitt, J.E.8
Padberg, G.W.9
Frants, R.R.10
van der Maarel, S.M.11
-
32
-
-
0036674269
-
Large-scale proteomic analysis of the human spliceosome
-
Rappsilber J., Ryder U., Lamond A.I., Mann M. Large-scale proteomic analysis of the human spliceosome. Genome. Res. 2002, 12:1231-1245.
-
(2002)
Genome. Res.
, vol.12
, pp. 1231-1245
-
-
Rappsilber, J.1
Ryder, U.2
Lamond, A.I.3
Mann, M.4
-
33
-
-
32044454237
-
Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy
-
Reed P., Porter N.C., Strong J., Pumplin D.W., Corse A.M., Luther P.W., Flanigan K.M., Bloch R.J. Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy. Ann. Neurol. 2006, 59:289-297.
-
(2006)
Ann. Neurol.
, vol.59
, pp. 289-297
-
-
Reed, P.1
Porter, N.C.2
Strong, J.3
Pumplin, D.W.4
Corse, A.M.5
Luther, P.W.6
Flanigan, K.M.7
Bloch, R.J.8
-
34
-
-
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., van der Maarel S.M., Filippova G.N., Tapscott S.J. RNA transcripts, miRNA-sized fragments, and proteins produced from D4Z4 Units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum. Mol. Genet. 2009.
-
(2009)
Hum. Mol. Genet.
-
-
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
van der Maarel, S.M.11
Filippova, G.N.12
Tapscott, S.J.13
-
36
-
-
0023835505
-
A high-efficiency HeLa cell nuclear transcription extract
-
Shapiro D.J., Sharp P.A., Wahli W.W., Keller M.J. A high-efficiency HeLa cell nuclear transcription extract. DNA 1988, 7:47-55.
-
(1988)
DNA
, vol.7
, pp. 47-55
-
-
Shapiro, D.J.1
Sharp, P.A.2
Wahli, W.W.3
Keller, M.J.4
-
37
-
-
13844312400
-
Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex
-
Sarbassov D.D., Guertin D.A., Ali S.M., Sabatini D.M. Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex. Science 2005, 307:1098-1101.
-
(2005)
Science
, vol.307
, pp. 1098-1101
-
-
Sarbassov, D.D.1
Guertin, D.A.2
Ali, S.M.3
Sabatini, D.M.4
-
38
-
-
53549117700
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Curr. Opin. Neurol. 2008, 21:585-589.
-
(2008)
Curr. Opin. Neurol.
, vol.21
, pp. 585-589
-
-
Selcen, D.1
-
39
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
van Deutekom J.C., Lemmers R.J., Grewal P.K., van Geel M., Romberg S., Dauwerse H.G., Wright T.J., Padberg G.W., Hofker M.H., Hewitt J.E., Frants R.R. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum. Mol. Genet. 1996, 5:581-590.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 581-590
-
-
van Deutekom, J.C.1
Lemmers, R.J.2
Grewal, P.K.3
van Geel, M.4
Romberg, S.5
Dauwerse, H.G.6
Wright, T.J.7
Padberg, G.W.8
Hofker, M.H.9
Hewitt, J.E.10
Frants, R.R.11
-
40
-
-
2342572330
-
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
-
van Koningsbruggen S., Dirks R.W., Mommaas A.M., Onderwater J.J., Deidda G., Padberg G.W., Frants R.R., van der Maarel S.M. FRG1P is localised in the nucleolus, Cajal bodies, and speckles. J. Med. Genet. 2004, 41:e46.
-
(2004)
J. Med. Genet.
, vol.41
-
-
van Koningsbruggen, S.1
Dirks, R.W.2
Mommaas, A.M.3
Onderwater, J.J.4
Deidda, G.5
Padberg, G.W.6
Frants, R.R.7
van der Maarel, S.M.8
-
41
-
-
33846589302
-
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
-
van Koningsbruggen S., Straasheijm K.R., Sterrenburg E., de Graaf N., Dauwerse H.G., Frants R.R., van der Maarel S.M. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma 2007, 116:53-64.
-
(2007)
Chromosoma
, vol.116
, pp. 53-64
-
-
van Koningsbruggen, S.1
Straasheijm, K.R.2
Sterrenburg, E.3
de Graaf, N.4
Dauwerse, H.G.5
Frants, R.R.6
van der Maarel, S.M.7
-
42
-
-
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. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 1992, 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
-
43
-
-
0027179549
-
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus
-
Wijmenga C., Winokur S.T., Padberg G.W., Skraastad M.I., Altherr M.R., Wasmuth J.J., Murray J.C., Hofker M.H., Frants R.R. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Hum. Genet. 1993, 92:198-203.
-
(1993)
Hum. Genet.
, vol.92
, pp. 198-203
-
-
Wijmenga, C.1
Winokur, S.T.2
Padberg, G.W.3
Skraastad, M.I.4
Altherr, M.R.5
Wasmuth, J.J.6
Murray, J.C.7
Hofker, M.H.8
Frants, R.R.9
-
44
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
Winokur S.T., Chen Y.W., Masny P.S., Martin J.H., Ehmsen J.T., Tapscott S.J., van der Maarel S.M., Hayashi Y., Flanigan K.M. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum. Mol. Genet. 2003, 12:2895-2907.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2895-2907
-
-
Winokur, S.T.1
Chen, Y.W.2
Masny, P.S.3
Martin, J.H.4
Ehmsen, J.T.5
Tapscott, S.J.6
van der Maarel, S.M.7
Hayashi, Y.8
Flanigan, K.M.9
-
45
-
-
77955892276
-
Testing the effects of FSHD candidate gene expression in vertebrate muscle development
-
Wuebbles R.D., Long S.W., Hanel M.L., Jones P.L. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int. J. Clin. Exp. Pathol. 2010, 3:386-400.
-
(2010)
Int. J. Clin. Exp. Pathol.
, vol.3
, pp. 386-400
-
-
Wuebbles, R.D.1
Long, S.W.2
Hanel, M.L.3
Jones, P.L.4
-
46
-
-
67650314502
-
FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy
-
Wuebbles R.D., Hanel M.L., Jones P.L. FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis. Model Mech. 2009, 2:267-274.
-
(2009)
Dis. Model Mech.
, vol.2
, pp. 267-274
-
-
Wuebbles, R.D.1
Hanel, M.L.2
Jones, P.L.3
-
47
-
-
0023832469
-
Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy
-
Webster C., Silberstein L., Hays A.P., Blau H.M. Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy. Cell 1988, 52:503-513.
-
(1988)
Cell
, vol.52
, pp. 503-513
-
-
Webster, C.1
Silberstein, L.2
Hays, A.P.3
Blau, H.M.4
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