-
1
-
-
84915829052
-
Population-based incidence and prevalence of facioscapulohumeral dystrophy
-
Deenen J.C.W., et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014, 83:1056-1059.
-
(2014)
Neurology
, vol.83
, pp. 1056-1059
-
-
Deenen, J.C.W.1
-
2
-
-
0002549081
-
De la myopathie atrophique progressive
-
Landouzy L., Dejerine J. De la myopathie atrophique progressive. Rev. Med. Fr. 1885, 5:81-253.
-
(1885)
Rev. Med. Fr.
, vol.5
, pp. 81-253
-
-
Landouzy, L.1
Dejerine, J.2
-
3
-
-
0032079336
-
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females
-
Zatz M., et al. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am. J. Med. Genet. 1998, 161:155-161.
-
(1998)
Am. J. Med. Genet.
, vol.161
, pp. 155-161
-
-
Zatz, M.1
-
4
-
-
0026320445
-
Hearing loss in facioscapulohumeral muscular dystrophy
-
Brouwer O.F., et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991, 41:1878-1881.
-
(1991)
Neurology
, vol.41
, pp. 1878-1881
-
-
Brouwer, O.F.1
-
5
-
-
0023202070
-
Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications
-
Fitzsimons R.B., et al. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987, 110:631-648.
-
(1987)
Brain
, vol.110
, pp. 631-648
-
-
Fitzsimons, R.B.1
-
6
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
Lemmers R.J., et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat. Genet. 2012, 44:1370-1374.
-
(2012)
Nat. Genet.
, vol.44
, pp. 1370-1374
-
-
Lemmers, R.J.1
-
7
-
-
79955664112
-
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
-
Van der Maarel S.M., et al. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol. Med. 2011, 17:252-258.
-
(2011)
Trends Mol. Med.
, vol.17
, pp. 252-258
-
-
Van der Maarel, S.M.1
-
8
-
-
84929174033
-
Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease
-
Published online December 4, 2014.
-
Himeda C.L., et al. Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid. Redox Signal. 2014, Published online December 4, 2014. http://dx.doi.org/10.1089/ars.2014.6090.
-
(2014)
Antioxid. Redox Signal.
-
-
Himeda, C.L.1
-
9
-
-
0025160101
-
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
Wijmenga C., et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990, 336:651-653.
-
(1990)
Lancet
, vol.336
, pp. 651-653
-
-
Wijmenga, C.1
-
10
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1
-
Van Deutekom J.C.T., et al. Evidence for subtelomeric exchange of 3.3kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum. Mol. Genet. 1996, 5:1997-2003.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1997-2003
-
-
Van Deutekom, J.C.T.1
-
11
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C., 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
-
12
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers R.J., et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329:1650-1653.
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.1
-
13
-
-
8844227430
-
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
-
Lemmers R.J., et al. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 2004, 75:1124-1130.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 1124-1130
-
-
Lemmers, R.J.1
-
14
-
-
84890521016
-
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
-
Ricci G., et al. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain 2013, 136:3408-3417.
-
(2013)
Brain
, vol.136
, pp. 3408-3417
-
-
Ricci, G.1
-
15
-
-
84859478913
-
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy
-
Scionti I., et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 2012, 90:628-635.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 628-635
-
-
Scionti, I.1
-
16
-
-
84885298881
-
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
-
Sacconi S., et al. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am. J. Hum. Genet. 2013, 93:744-751.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 744-751
-
-
Sacconi, S.1
-
17
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt J.E., et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 1994, 3:1287-1295.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
-
18
-
-
0028303398
-
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease
-
Winokur S.T., et al. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res. 1994, 2:225-234.
-
(1994)
Chromosome Res.
, vol.2
, pp. 225-234
-
-
Winokur, S.T.1
-
19
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
De Greef J.C., et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum. Mutat. 2009, 30:1449-1459.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1449-1459
-
-
De Greef, J.C.1
-
20
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
Van Overveld P.G.M., et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet. 2003, 35:315-317.
-
(2003)
Nat. Genet.
, vol.35
, pp. 315-317
-
-
Van Overveld, P.G.M.1
-
22
-
-
84920609072
-
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
-
Gaillard M-C., et al. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology 2014, 83:733-742.
-
(2014)
Neurology
, vol.83
, pp. 733-742
-
-
Gaillard, M.-C.1
-
23
-
-
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., et al. 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
-
24
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
Dixit M., et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:18157-18162.
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
-
25
-
-
78449250235
-
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
-
Snider L., et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010, 6:e1001181.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1001181
-
-
Snider, L.1
-
26
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis
-
Jones T.I., et al. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis. Hum. Mol. Genet. 2012, 21:4419-4430.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4419-4430
-
-
Jones, T.I.1
-
27
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy
-
Geng L.N., et al. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev. Cell 2012, 22:38-51.
-
(2012)
Dev. Cell
, vol.22
, pp. 38-51
-
-
Geng, L.N.1
-
28
-
-
84873187664
-
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
-
Tassin A., et al. DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?. J. Cell. Mol. Med. 2013, 17:76-89.
-
(2013)
J. Cell. Mol. Med.
, vol.17
, pp. 76-89
-
-
Tassin, A.1
-
29
-
-
80053349950
-
Gene expression during normal and FSHD myogenesis
-
Tsumagari K., et al. Gene expression during normal and FSHD myogenesis. BMC Med. Genomics 2011, 4:67.
-
(2011)
BMC Med. Genomics
, vol.4
, pp. 67
-
-
Tsumagari, K.1
-
30
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
Winokur S.T., et al. 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
-
31
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski D., et al. 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
-
32
-
-
70450275779
-
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
-
Klooster R., et al. 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
-
33
-
-
0037047439
-
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini D., et al. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002, 110:339-348.
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
-
34
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
van Deutekom J.C.T. 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.T.1
-
35
-
-
8744240156
-
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
-
Rijkers T., et al. 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
-
36
-
-
18344417892
-
Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35
-
van Geel M., et al. Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet. Genome Res. 2000, 88:316-321.
-
(2000)
Cytogenet. Genome Res.
, vol.88
, pp. 316-321
-
-
van Geel, M.1
-
37
-
-
84879657086
-
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy
-
Caruso N., et al. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet. 2013, 9:e1003550.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003550
-
-
Caruso, N.1
-
38
-
-
77949318270
-
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation
-
Ansseau E., et al. 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
, pp. e7482
-
-
Ansseau, E.1
-
39
-
-
84860885909
-
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in fshd muscular dystrophy
-
Cabianca D.S., et al. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in fshd muscular dystrophy. Cell 2012, 149:819-831.
-
(2012)
Cell
, vol.149
, pp. 819-831
-
-
Cabianca, D.S.1
-
40
-
-
67249104052
-
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
-
Snider L., et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum. Mol. Genet. 2009, 18:2414-2430.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2414-2430
-
-
Snider, L.1
-
41
-
-
84859991523
-
Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production
-
Block G.J., et al. Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. PLoS ONE 2012, 7:e35532.
-
(2012)
PLoS ONE
, vol.7
, pp. e35532
-
-
Block, G.J.1
-
42
-
-
34248572456
-
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy
-
Reed P.W., et al. Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Exp. Neurol. 2007, 205:583-586.
-
(2007)
Exp. Neurol.
, vol.205
, pp. 583-586
-
-
Reed, P.W.1
-
43
-
-
84964817861
-
Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice
-
Pandey S.N., et al. Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice. Biol. Open 2012, 1:629-639.
-
(2012)
Biol. Open
, vol.1
, pp. 629-639
-
-
Pandey, S.N.1
-
44
-
-
84890277215
-
Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients
-
Dmitriev P., et al. Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. J. Biol. Chem. 2013, 288:34989-35002.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 34989-35002
-
-
Dmitriev, P.1
-
45
-
-
84875851441
-
MiR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors
-
Harafuji N., et al. miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors. Orphanet J. Rare Dis. 2013, 8:55.
-
(2013)
Orphanet J. Rare Dis.
, vol.8
, pp. 55
-
-
Harafuji, N.1
-
46
-
-
78649330207
-
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene
-
Leidenroth A., Hewitt J.E. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene. BMC Evol. Biol. 2010, 10:364.
-
(2010)
BMC Evol. Biol.
, vol.10
, pp. 364
-
-
Leidenroth, A.1
Hewitt, J.E.2
-
47
-
-
84878055077
-
DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 Cells
-
Sharma V., et al. DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 Cells. PLoS ONE 2013, 8:e64691.
-
(2013)
PLoS ONE
, vol.8
, pp. e64691
-
-
Sharma, V.1
-
48
-
-
84888236297
-
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis
-
Young J.M., et al. DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. PLoS Genet. 2013, 9:e1003947.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003947
-
-
Young, J.M.1
-
49
-
-
84924514159
-
Direct interplay between two candidate genes in FSHD muscular dystrophy
-
Ferri G., et al. Direct interplay between two candidate genes in FSHD muscular dystrophy. Hum. Mol. Genet. 2015, 24:1256-1266.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 1256-1266
-
-
Ferri, G.1
-
50
-
-
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., et al. 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, 6:5303-5321.
-
(2006)
Proteomics
, vol.6
, pp. 5303-5321
-
-
Celegato, B.1
-
52
-
-
84872415036
-
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
-
Mitsuhashi H., et al. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 2013, 22:568-577.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 568-577
-
-
Mitsuhashi, H.1
-
53
-
-
79955600334
-
Immunodetection of human double homeobox 4
-
Geng L.N., et al. Immunodetection of human double homeobox 4. Hybridoma 2011, 30:125-130.
-
(2011)
Hybridoma
, vol.30
, pp. 125-130
-
-
Geng, L.N.1
-
54
-
-
79953292473
-
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
-
Wallace L.M., et al. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann. Neurol. 2011, 69:540-552.
-
(2011)
Ann. Neurol.
, vol.69
, pp. 540-552
-
-
Wallace, L.M.1
-
55
-
-
84876821220
-
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
-
Krom Y.D., et al. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet. 2013, 9:e1003415.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003415
-
-
Krom, Y.D.1
-
56
-
-
84922547186
-
Dominant lethal pathologies in male mice engineered to contain an X-Linked DUX4 transgene
-
Dandapat A., et al. Dominant lethal pathologies in male mice engineered to contain an X-Linked DUX4 transgene. Cell Rep. 2014, 8:1484-1496.
-
(2014)
Cell Rep.
, vol.8
, pp. 1484-1496
-
-
Dandapat, A.1
-
57
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D., et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006, 439:973-977.
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
-
58
-
-
84901354846
-
Human skeletal muscle xenograft as a new preclinical model for muscle disorders
-
3180-3108.
-
Zhang Y., et al. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum. Mol. Genet. 2014, 23. 3180-3108.
-
(2014)
Hum. Mol. Genet.
, vol.23
-
-
Zhang, Y.1
-
59
-
-
84884722294
-
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
-
Broucqsault N., et al. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Hum. Mol. Genet. 2013, 22:4206-4214.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4206-4214
-
-
Broucqsault, N.1
-
60
-
-
33846433695
-
RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA
-
Alexiadis V., et al. RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. Biochim. Biophys. Acta 2007, 1769:29-40.
-
(2007)
Biochim. Biophys. Acta
, vol.1769
, pp. 29-40
-
-
Alexiadis, V.1
-
61
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
Osborne R.J., et al. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2006, 68:569-577.
-
(2006)
Neurology
, vol.68
, pp. 569-577
-
-
Osborne, R.J.1
-
62
-
-
0345227304
-
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
-
Jiang G., et al. 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, 12:2909-2921.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
-
63
-
-
84925936842
-
Identification of variants in the 4q35 gene FAT1 in patients with facioscapulohumeral dystrophy-like phenotype
-
Published online January 23, 2015.
-
Puppo F., et al. Identification of variants in the 4q35 gene FAT1 in patients with facioscapulohumeral dystrophy-like phenotype. Hum. Mutat. 2015, Published online January 23, 2015. http://dx.doi.org/10.1002/humu.22760.
-
(2015)
Hum. Mutat.
-
-
Puppo, F.1
-
64
-
-
0037235043
-
Pitx1 and Pitx2 are required for development of hindlimb buds
-
Marcil A., et al. Pitx1 and Pitx2 are required for development of hindlimb buds. Development 2003, 130:45-55.
-
(2003)
Development
, vol.130
, pp. 45-55
-
-
Marcil, A.1
-
65
-
-
84954358299
-
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation
-
Gurnett C.A., et al. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am. J. Hum. Genet. 2008, 83:616-622.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 616-622
-
-
Gurnett, C.A.1
-
66
-
-
0344687361
-
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
-
Tonini M.M., et al. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul. Disord. 2004, 14:33-38.
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 33-38
-
-
Tonini, M.M.1
-
67
-
-
65549085668
-
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers
-
Arashiro P., et al. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:6220-6225.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 6220-6225
-
-
Arashiro, P.1
-
68
-
-
77955864157
-
Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies
-
Rocha C.T., Hoffman E.P. Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies. Curr. Neurol. Neurosci. Rep. 2010, 10:267-276.
-
(2010)
Curr. Neurol. Neurosci. Rep.
, vol.10
, pp. 267-276
-
-
Rocha, C.T.1
Hoffman, E.P.2
-
69
-
-
37549005500
-
Facioscapulohumeral dystrophy
-
Pandya S., et al. Facioscapulohumeral dystrophy. Phys. Ther. 2008, 88:105-113.
-
(2008)
Phys. Ther.
, vol.88
, pp. 105-113
-
-
Pandya, S.1
-
70
-
-
84902517476
-
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
-
Tawil R., et al. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet. Muscle 2014, 4:12.
-
(2014)
Skelet. Muscle
, vol.4
, pp. 12
-
-
Tawil, R.1
-
71
-
-
84859514536
-
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
-
Richards M., et al. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?. Hum. Genet. 2012, 131:325-3340.
-
(2012)
Hum. Genet.
, vol.131
, pp. 325-3340
-
-
Richards, M.1
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