-
1
-
-
84902517476
-
Facioscapulohumeral dystrophy: The path to consensus on pathophysiology
-
Tawil R, van der Maarel SM, Tapscott SJ,. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle 2014; 4: 12.
-
(2014)
Skelet Muscle
, vol.4
, pp. 12
-
-
Tawil, R.1
Van Der Maarel, S.M.2
Tapscott, S.J.3
-
2
-
-
84915829052
-
Population-based incidence and prevalence of facioscapulohumeral dystrophy
-
Deenen JC, Arnts H, van der Maarel SM, 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.1
Arnts, H.2
Van Der Maarel, S.M.3
-
3
-
-
53049110907
-
Facioscapulohumeral muscular dystrophy
-
Tawil R,. Facioscapulohumeral muscular dystrophy. Neurotherapeutics 2008; 5: 601-606.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 601-606
-
-
Tawil, R.1
-
5
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
Padberg GW, Brouwer OF, de Keizer RJ, et al., On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 2: S73-S80.
-
(1995)
Muscle Nerve
, vol.2
, pp. S73-S80
-
-
Padberg, G.W.1
Brouwer, O.F.2
De Keizer, R.J.3
-
6
-
-
0026320445
-
Hearing loss in facioscapulohumeral muscular dystrophy
-
Brouwer OF, Padberg GW, Ruys CJ, et al., Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991; 41: 1878-1881.
-
(1991)
Neurology
, vol.41
, pp. 1878-1881
-
-
Brouwer, O.F.1
Padberg, G.W.2
Ruys, C.J.3
-
7
-
-
84888230404
-
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
-
Lutz KL, Holte L, Kliethermes SA, et al., Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology 2013; 81: 1374-1377.
-
(2013)
Neurology
, vol.81
, pp. 1374-1377
-
-
Lutz, K.L.1
Holte, L.2
Kliethermes, S.A.3
-
8
-
-
56049098801
-
Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions
-
Trevisan CP, Pastorello E, Tomelleri G, et al., Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol 2008; 15: 1353-1358.
-
(2008)
Eur J Neurol
, vol.15
, pp. 1353-1358
-
-
Trevisan, C.P.1
Pastorello, E.2
Tomelleri, G.3
-
9
-
-
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, et al., FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993; 2: 2037-2042.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
Van Deutekom, J.C.1
Wijmenga, C.2
Van Tienhoven, E.A.3
-
10
-
-
0025160101
-
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
Wijmenga C, Frants RR, Brouwer OF, 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
Frants, R.R.2
Brouwer, O.F.3
-
11
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
Lemmers RJ, Tawil R, Petek LM, 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
Tawil, R.2
Petek, L.M.3
-
12
-
-
0036788610
-
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
-
Lemmers RJ, de Kievit P, Sandkuijl L, et al., Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 2002; 32: 235-236.
-
(2002)
Nat Genet
, vol.32
, pp. 235-236
-
-
Lemmers, R.J.1
De Kievit, P.2
Sandkuijl, L.3
-
13
-
-
8844227430
-
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
-
Lemmers RJ, Wohlgemuth M, Frants RR, 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
Wohlgemuth, M.2
Frants, R.R.3
-
14
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers RJ, van der Vliet PJ, Klooster R, 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
Van Der Vliet, P.J.2
Klooster, R.3
-
15
-
-
34147177128
-
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere
-
Thomas NS, Wiseman K, Spurlock G, et al., A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet 2007; 44: 215-218.
-
(2007)
J Med Genet
, vol.44
, pp. 215-218
-
-
Thomas, N.S.1
Wiseman, K.2
Spurlock, G.3
-
16
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
U S A
-
Dixit M, Ansseau E, Tassin A, 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
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
-
17
-
-
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 AE, 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
Asawachaicharn, A.2
Tyler, A.E.3
-
18
-
-
80055040201
-
The FSHD atrophic myotube phenotype is caused by DUX4 expression
-
Vanderplanck C, Ansseau E, Charron S, et al., The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS One 2011; 6: e26820.
-
(2011)
PLoS One
, vol.6
, pp. e26820
-
-
Vanderplanck, C.1
Ansseau, E.2
Charron, S.3
-
19
-
-
84873187664
-
DUX4 expression in FSHD muscle cells: How could such a rare protein cause a myopathy?
-
Tassin A, Laoudj-Chenivesse D, Vanderplanck C, et al., DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med 2012; 17: 76-89.
-
(2012)
J Cell Mol Med
, vol.17
, pp. 76-89
-
-
Tassin, A.1
Laoudj-Chenivesse, D.2
Vanderplanck, C.3
-
20
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy
-
Geng LN, Yao Z, Snider L, 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
Yao, Z.2
Snider, L.3
-
21
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis
-
Jones TI, Chen JC, Rahimov F, 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
Chen, J.C.2
Rahimov, F.3
-
22
-
-
84884722294
-
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
-
Broucqsault N, Morere J, Gaillard MC, 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
Morere, J.2
Gaillard, M.C.3
-
23
-
-
84890393714
-
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
-
Ferreboeuf M, Mariot V, Bessieres B, et al., DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Hum Mol Genet 2014; 23: 171-181.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 171-181
-
-
Ferreboeuf, M.1
Mariot, V.2
Bessieres, B.3
-
24
-
-
84879657086
-
Deregulation of the protocadherin gene FAT1 alters muscle shapes: Implications for the pathogenesis of facioscapulohumeral dystrophy
-
Caruso N, Herberth B, Bartoli M, 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
Herberth, B.2
Bartoli, M.3
-
25
-
-
70349338886
-
The skinny on Fat: An enormous cadherin that regulates cell adhesion, tissue growth, and planar cell polarity
-
Sopko R, McNeill H,. The skinny on Fat: an enormous cadherin that regulates cell adhesion, tissue growth, and planar cell polarity. Curr Opin Cell Biol 2009; 21: 717-723.
-
(2009)
Curr Opin Cell Biol
, vol.21
, pp. 717-723
-
-
Sopko, R.1
McNeill, H.2
-
26
-
-
2542438768
-
Mammalian Fat1 cadherin regulates actin dynamics and cell-cell contact
-
Tanoue T, Takeichi M,. Mammalian Fat1 cadherin regulates actin dynamics and cell-cell contact. J Cell Biol 2004; 165: 517-528.
-
(2004)
J Cell Biol
, vol.165
, pp. 517-528
-
-
Tanoue, T.1
Takeichi, M.2
-
27
-
-
34547951894
-
Differentially spliced isoforms of FAT1 are asymmetrically distributed within migrating cells
-
Braun GS, Kretzler M, Heider T, et al., Differentially spliced isoforms of FAT1 are asymmetrically distributed within migrating cells. J Biol Chem 2007; 282: 22823-22833.
-
(2007)
J Biol Chem
, vol.282
, pp. 22823-22833
-
-
Braun, G.S.1
Kretzler, M.2
Heider, T.3
-
28
-
-
84920609072
-
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
-
Gaillard MC, Roche S, Dion 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
Roche, S.2
Dion, C.3
-
29
-
-
64149097786
-
The MIQE guidelines: Minimum information for publication of quantitative real-time PCR experiments
-
Bustin SA, Benes V, Garson JA, et al., The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem 2009; 55: 611-622.
-
(2009)
Clin Chem
, vol.55
, pp. 611-622
-
-
Bustin, S.A.1
Benes, V.2
Garson, J.A.3
-
30
-
-
33846898769
-
Temporal and spatial expression profiles of the Fat3 protein, a giant cadherin molecule, during mouse development
-
Nagae S, Tanoue T, Takeichi M,. Temporal and spatial expression profiles of the Fat3 protein, a giant cadherin molecule, during mouse development. Dev Dyn 2007; 236: 534-543.
-
(2007)
Dev Dyn
, vol.236
, pp. 534-543
-
-
Nagae, S.1
Tanoue, T.2
Takeichi, M.3
-
32
-
-
84866506239
-
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: A cellular model for FSHD
-
Krom YD, Dumonceaux J, Mamchaoui K, et al., Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol 2012; 181: 1387-1401.
-
(2012)
Am J Pathol
, vol.181
, pp. 1387-1401
-
-
Krom, Y.D.1
Dumonceaux, J.2
Mamchaoui, K.3
-
33
-
-
78449250235
-
Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene
-
Snider L, Geng LN, Lemmers RJ, 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
Geng, L.N.2
Lemmers, R.J.3
-
34
-
-
84915829051
-
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
-
Yao Z, Snider L, Balog J, et al., DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Hum Mol Genet 2014; 23: 5342-5352.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5342-5352
-
-
Yao, Z.1
Snider, L.2
Balog, J.3
-
35
-
-
84888236297
-
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis
-
Young JM, Whiddon JL, Yao Z, et al., DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. PLoS Genet 2014; 9: e1003947.
-
(2014)
PLoS Genet
, vol.9
, pp. e1003947
-
-
Young, J.M.1
Whiddon, J.L.2
Yao, Z.3
-
36
-
-
84925936842
-
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype
-
Puppo F, Dionnet E, Gaillard MC, et al., Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Hum Mutat. 2015; 36: 443-453.
-
(2015)
Hum Mutat
, vol.36
, pp. 443-453
-
-
Puppo, F.1
Dionnet, E.2
Gaillard, M.C.3
-
37
-
-
0038641811
-
Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype
-
Ciani L, Patel A, Allen ND, ffrench-Constant C,. Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype. Mol Cell Biol 2003; 23: 3575-3582.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 3575-3582
-
-
Ciani, L.1
Patel, A.2
Allen, N.D.3
Ffrench-Constant, C.4
-
38
-
-
0025748166
-
The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily
-
Mahoney PA, Weber U, Onofrechuk P, et al., The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily. Cell 1991; 67: 853-868.
-
(1991)
Cell
, vol.67
, pp. 853-868
-
-
Mahoney, P.A.1
Weber, U.2
Onofrechuk, P.3
-
39
-
-
84859505154
-
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling
-
Scionti I, Fabbri G, Fiorillo C, et al., Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. J Med Genet 2012; 49: 171-178.
-
(2012)
J Med Genet
, vol.49
, pp. 171-178
-
-
Scionti, I.1
Fabbri, G.2
Fiorillo, C.3
-
40
-
-
84860885909
-
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy
-
Cabianca DS, Casa V, Bodega B, 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
Casa, V.2
Bodega, B.3
-
41
-
-
21044431930
-
New insights into Fat cadherins
-
Tanoue T, Takeichi M,. New insights into Fat cadherins. J Cell Sci 2005; 118: 2347-2353.
-
(2005)
J Cell Sci
, vol.118
, pp. 2347-2353
-
-
Tanoue, T.1
Takeichi, M.2
|