-
1
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JC, Wijmenga C, van Tienhoven EA. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-42.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
-
2
-
-
0028925370
-
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
-
Lee JH, Goto K, Matsuda C. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 1995, 2:S6-13.
-
(1995)
Muscle Nerve
, vol.2
-
-
Lee, J.H.1
Goto, K.2
Matsuda, C.3
-
3
-
-
0028959638
-
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy
-
Lunt PW, Jardine PE, Koch M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve 1995, 2:S103-9.
-
(1995)
Muscle Nerve
, vol.2
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.3
-
4
-
-
0028153917
-
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions
-
Wijmenga C, van Deutekom JC, Hewitt JE. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 1994, 19:21-6.
-
(1994)
Genomics
, vol.19
, pp. 21-26
-
-
Wijmenga, C.1
van Deutekom, J.C.2
Hewitt, J.E.3
-
5
-
-
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 PW, Jardine PE, Koch MC. 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, 4:951-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
-
6
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group
-
Tawil R, Forrester J, Griggs RC. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol 1996, 39:744-8.
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
-
7
-
-
25444435141
-
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
-
van Overveld PG, Enthoven L, Ricci E. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 2005, 58:569-76.
-
(2005)
Ann Neurol
, vol.58
, pp. 569-576
-
-
van Overveld, P.G.1
Enthoven, L.2
Ricci, E.3
-
8
-
-
0037047439
-
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002, 110:339-48.
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
9
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D, D'Antona G, Moggio M. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006, 439:973-7.
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
-
10
-
-
0345227304
-
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
-
Jiang G, Yang F, van Overveld PG. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003, 12:2909-21.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
Yang, F.2
van Overveld, P.G.3
-
11
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
Winokur ST, Chen YW, Masny PS. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 2003, 12:2895-907.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2895-2907
-
-
Winokur, S.T.1
Chen, Y.W.2
Masny, P.S.3
-
12
-
-
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 MC, Ding H. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 1999, 236:25-32.
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriels, J.1
Beckers, M.C.2
Ding, H.3
-
13
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
Kowaljow V, Marcowycz A, Ansseau E. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007, 17:611-23.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
-
14
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
Dixit M, Ansseau E, Tassin A. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 2007, 104:18157-62.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
-
15
-
-
0031708755
-
Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements
-
Ding H, Beckers MC, Plaisance S. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements. Hum Mol Genet 1998, 7:1681-94.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1681-1694
-
-
Ding, H.1
Beckers, M.C.2
Plaisance, S.3
-
16
-
-
38049094992
-
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy
-
Petrov A, Allinne J, Pirozhkova I. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res 2008, 18:39-45.
-
(2008)
Genome Res
, vol.18
, pp. 39-45
-
-
Petrov, A.1
Allinne, J.2
Pirozhkova, I.3
-
17
-
-
33646485687
-
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
-
Petrov A, Pirozhkova I, Carnac G. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA 2006, 103:6982-7.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 6982-6987
-
-
Petrov, A.1
Pirozhkova, I.2
Carnac, G.3
-
18
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
Lemmers RJ, Wohlgemuth M, van der Gaag KJ. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007, 81:884-94.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 884-894
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
van der Gaag, K.J.3
-
20
-
-
0043095483
-
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
-
Winokur ST, Barrett K, Martin JH. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord 2003, 13:322-3.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 322-323
-
-
Winokur, S.T.1
Barrett, K.2
Martin, J.H.3
-
21
-
-
27944486698
-
Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
-
Vilquin JT, Marolleau JP, Sacconi S. Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients. Gene Ther 2005, 12:1651-62.
-
(2005)
Gene Ther
, vol.12
, pp. 1651-1662
-
-
Vilquin, J.T.1
Marolleau, J.P.2
Sacconi, S.3
-
22
-
-
0034840218
-
Improved characterization of FSHD mutations
-
Zhang Y, Forner J, Fournet S. Improved characterization of FSHD mutations. Ann Genet 2001, 44:105-10.
-
(2001)
Ann Genet
, vol.44
, pp. 105-110
-
-
Zhang, Y.1
Forner, J.2
Fournet, S.3
-
23
-
-
14144251354
-
Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans
-
Thomas C, Perrey S, Lambert K. Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans. J Appl Physiol 2005, 98:804-9.
-
(2005)
J Appl Physiol
, vol.98
, pp. 804-809
-
-
Thomas, C.1
Perrey, S.2
Lambert, K.3
-
24
-
-
9244255831
-
Relationships between maximal muscle oxidative capacity and blood lactate removal after supramaximal exercise and fatigue indexes in humans
-
Thomas C, Sirvent P, Perrey S. Relationships between maximal muscle oxidative capacity and blood lactate removal after supramaximal exercise and fatigue indexes in humans. J Appl Physiol 2004, 97:2132-8.
-
(2004)
J Appl Physiol
, vol.97
, pp. 2132-2138
-
-
Thomas, C.1
Sirvent, P.2
Perrey, S.3
-
25
-
-
33746541115
-
Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells
-
Kitzmann M, Bonnieu A, Duret C. Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells. J Cell Physiol 2006, 208:538-48.
-
(2006)
J Cell Physiol
, vol.208
, pp. 538-548
-
-
Kitzmann, M.1
Bonnieu, A.2
Duret, C.3
-
26
-
-
34248191209
-
MRI Cell Image Analyzer--A visual scripting interface for ImageJ and its usage at the microscopy facility Montpellier RIO Imaging
-
Baecker V, Travo P. MRI Cell Image Analyzer--A visual scripting interface for ImageJ and its usage at the microscopy facility Montpellier RIO Imaging. 105-10. pp.
-
-
-
Baecker, V.1
Travo, P.2
-
27
-
-
0038773214
-
Replicating myoblasts express a muscle-specific phenotype
-
Kaufman SJ, Foster RF. Replicating myoblasts express a muscle-specific phenotype. Proc Natl Acad Sci USA 1988, 85:9606-10.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 9606-9610
-
-
Kaufman, S.J.1
Foster, R.F.2
-
28
-
-
4043145777
-
Human adult craniofacial muscle-derived cells: neural-cell adhesion-molecule (NCAM; CD56)-expressing cells appear to contain multipotential stem cells
-
Sinanan AC, Hunt NP, Lewis MP. Human adult craniofacial muscle-derived cells: neural-cell adhesion-molecule (NCAM; CD56)-expressing cells appear to contain multipotential stem cells. Biotechnol Appl Biochem 2004, 40:25-34.
-
(2004)
Biotechnol Appl Biochem
, vol.40
, pp. 25-34
-
-
Sinanan, A.C.1
Hunt, N.P.2
Lewis, M.P.3
-
29
-
-
37349061115
-
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies
-
Morosetti R, Mirabella M, Gliubizzi C. Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies. Stem Cells 2007, 25:3173-82.
-
(2007)
Stem Cells
, vol.25
, pp. 3173-3182
-
-
Morosetti, R.1
Mirabella, M.2
Gliubizzi, C.3
-
30
-
-
0037468461
-
Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
-
Yip DJ, Picketts DJ. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett 2003, 537:133-8.
-
(2003)
FEBS Lett
, vol.537
, pp. 133-138
-
-
Yip, D.J.1
Picketts, D.J.2
-
31
-
-
27744465686
-
Microtubule-dependent transport and organization of sarcomeric myosin during skeletal muscle differentiation
-
Pizon V, Gerbal F, Diaz CC. Microtubule-dependent transport and organization of sarcomeric myosin during skeletal muscle differentiation. Embo J 2005, 24:3781-92.
-
(2005)
Embo J
, vol.24
, pp. 3781-3792
-
-
Pizon, V.1
Gerbal, F.2
Diaz, C.C.3
-
32
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld PG, Lemmers RJ, Sandkuijl LA. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003, 35:315-7.
-
(2003)
Nat Genet
, vol.35
, pp. 315-317
-
-
van Overveld, P.G.1
Lemmers, R.J.2
Sandkuijl, L.A.3
-
33
-
-
0034782974
-
Defective satellite cells in congenital myotonic dystrophy
-
Furling D, Coiffier L, Mouly V. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 2001, 10:2079-87.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2079-2087
-
-
Furling, D.1
Coiffier, L.2
Mouly, V.3
-
34
-
-
0034815139
-
Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts
-
Furling D, Lemieux D, Taneja K. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscul Disord 2001, 11:728-35.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 728-735
-
-
Furling, D.1
Lemieux, D.2
Taneja, K.3
-
35
-
-
0034806973
-
Molecular basis for impaired muscle differentiation in myotonic dystrophy
-
Timchenko NA, Iakova P, Cai ZJ. Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 2001, 21:6927-38.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 6927-6938
-
-
Timchenko, N.A.1
Iakova, P.2
Cai, Z.J.3
-
36
-
-
0020575157
-
Differentiation properties of pure populations of human dystrophic muscle cells
-
Blau HM, Webster C, Chiu CP. Differentiation properties of pure populations of human dystrophic muscle cells. Exp Cell Res 1983, 144:495-503.
-
(1983)
Exp Cell Res
, vol.144
, pp. 495-503
-
-
Blau, H.M.1
Webster, C.2
Chiu, C.P.3
-
37
-
-
33845880871
-
RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy
-
Macaione V, Aguennouz M, Rodolico C. RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy. Acta Neurol Scand 2007, 115:115-21.
-
(2007)
Acta Neurol Scand
, vol.115
, pp. 115-121
-
-
Macaione, V.1
Aguennouz, M.2
Rodolico, C.3
-
38
-
-
16844364725
-
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
-
Laoudj-Chenivesse D, Carnac G, Bisbal C. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 2005, 83:216-24.
-
(2005)
J Mol Med
, vol.83
, pp. 216-224
-
-
Laoudj-Chenivesse, D.1
Carnac, G.2
Bisbal, C.3
-
39
-
-
33749605124
-
Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes
-
Celegato B, Capitanio D, Pescatori M. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 2006, 6:5303-21.
-
(2006)
Proteomics
, vol.6
, pp. 5303-5321
-
-
Celegato, B.1
Capitanio, D.2
Pescatori, M.3
|