-
1
-
-
0034882438
-
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
-
Flanigan, K. M., Coffeen, C. M., Sexton, L., Stauffer, D., Brunner, S., Leppert, M. F. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001; 11: 525-529.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 525-529
-
-
Flanigan, K.M.1
Coffeen, C.M.2
Sexton, L.3
Stauffer, D.4
Brunner, S.5
Leppert, M.F.6
-
2
-
-
66549122709
-
Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample
-
Mostacciuolo, M. L., Pastorello, E., Vazza, G., et al. Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009; 75: 550-555.
-
(2009)
Clin Genet
, vol.75
, pp. 550-555
-
-
Mostacciuolo, M.L.1
Pastorello, E.2
Vazza, G.3
-
3
-
-
70350690312
-
Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
-
Norwood, F. L., Harling, C., Chinnery, P. F., Eagle, M., Bushby, K., Straub, V. Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population. Brain. 2009; 132: 3175-3186.
-
(2009)
Brain
, vol.132
, pp. 3175-3186
-
-
Norwood, F.L.1
Harling, C.2
Chinnery, P.F.3
Eagle, M.4
Bushby, K.5
Straub, V.6
-
4
-
-
0028918407
-
Facioscapulohumeral muscular dystrophy in the Dutch population
-
Padberg, G. W., Frants, R. R., Brouwer, O. F., Wijmenga, C., Bakker, E., Sandkuijl, L. A. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve. 1995; 2: S81-S84.
-
(1995)
Muscle Nerve
, vol.2
, pp. S81-S84
-
-
Padberg, G.W.1
Frants, R.R.2
Brouwer, O.F.3
Wijmenga, C.4
Bakker, E.5
Sandkuijl, L.A.6
-
5
-
-
77954035380
-
171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
-
Tawil, R., van der Maarel, S., Padberg, G. W., van Enge-len, B. G. 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2010; 20: 471-475.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 471-475
-
-
Tawil, R.1
Van Der Maarel, S.2
Padberg, G.W.3
Van Engelen, B.G.4
-
6
-
-
79955664112
-
Facioscapulohumeral muscular dystrophy and DUX4: Breaking the silence
-
van der Maarel, S. M., Tawil, R., Tapscott, S. J. 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
Tawil, R.2
Tapscott, S.J.3
-
7
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers, R. J., van der Vliet, P. J., 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
-
8
-
-
84891934382
-
Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands
-
Tawil, R., Shaw, D. W., van der Maarel, S. M., Tapscott, S. J. Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands. Neuromuscul Disord. 2014; 24: 79-85.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 79-85
-
-
Tawil, R.1
Shaw, D.W.2
Van Der Maarel, S.M.3
Tapscott, S.J.4
-
9
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy
-
Geng, L. N., 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
-
10
-
-
0028961960
-
Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses
-
Arahata, K., Ishihara, T., Fukunaga, H., et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses. Muscle Nerve. 1995; 2: S56-S66.
-
(1995)
Muscle Nerve
, vol.2
, pp. S56-S66
-
-
Arahata, K.1
Ishihara, T.2
Fukunaga, H.3
-
11
-
-
79959688961
-
CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI
-
Frisullo, G., Frusciante, R., Nociti, V., et al. CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI. J Clin Immunol. 2011; 31: 155-166.
-
(2011)
J Clin Immunol
, vol.31
, pp. 155-166
-
-
Frisullo, G.1
Frusciante, R.2
Nociti, V.3
-
12
-
-
84862227698
-
Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles
-
Tasca, G., Pescatori, M., Monforte, M., et al. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PLoS One. 2012; 7: e38779.
-
(2012)
Plos One
, vol.7
, pp. e38779
-
-
Tasca, G.1
Pescatori, M.2
Monforte, M.3
-
13
-
-
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
-
14
-
-
84867059682
-
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
-
Rahimov, F., King, O. D., Leung, D. G., et al. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012; 109: 16234-16239.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 16234-16239
-
-
Rahimov, F.1
King, O.D.2
Leung, D.G.3
-
15
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
Winokur, S. T., Chen, Y. W., Masny, P. S., 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
Chen, Y.W.2
Masny, P.S.3
-
16
-
-
78149236255
-
Clinical features of facioscapulohumeral muscular dystrophy 2
-
de Greef, J. C., Lemmers, R. J., Camano, P., et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010; 75: 1548-1554.
-
(2010)
Neurology
, vol.75
, pp. 1548-1554
-
-
De Greef, J.C.1
Lemmers, R.J.2
Camano, P.3
-
17
-
-
0032976224
-
Definitive molecular diagnosis of facioscapulohumeral dystrophy
-
Orrell, R. W., Tawil, R., Forrester, J., Kissel, J. T., Mendell, J. R., Figlewicz, D. A. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology. 1999; 52: 1822-1826.
-
(1999)
Neurology
, vol.52
, pp. 1822-1826
-
-
Orrell, R.W.1
Tawil, R.2
Forrester, J.3
Kissel, J.T.4
Mendell, J.R.5
Figlewicz, D.A.6
-
18
-
-
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., 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
-
19
-
-
0032978703
-
Etal.Progressinthemolec-ular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
-
Ricci,E.,Galluzzi,G.,Deidda,G.,etal.Progressinthemolec-ular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol. 1999; 45: 751-757.
-
(1999)
Ann Neurol
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
-
20
-
-
57249089001
-
Validation and comparison of two multiplex technologies, Luminex and Mesoscale Discovery, for human cytokine profiling
-
Chowdhury, F., Williams, A., Johnson, P. Validation and comparison of two multiplex technologies, Luminex and Mesoscale Discovery, for human cytokine profiling. J Immunol Methods. 2009; 340: 55-64.
-
(2009)
J Immunol Methods
, vol.340
, pp. 55-64
-
-
Chowdhury, F.1
Williams, A.2
Johnson, P.3
-
21
-
-
70349231384
-
Multiplexed microbead immunoassays by flow cytometry for molecular profiling: Basic concepts and proteomics applications
-
Krishhan, V. V., Khan, I. H., Luciw, P. A. Multiplexed microbead immunoassays by flow cytometry for molecular profiling: Basic concepts and proteomics applications. Crit Rev Biotechnol. 2009; 29: 29-43.
-
(2009)
Crit Rev Biotechnol
, vol.29
, pp. 29-43
-
-
Krishhan, V.V.1
Khan, I.H.2
Luciw, P.A.3
-
23
-
-
79960987794
-
Using false discovery rates for multiple comparisons in ecology and evolution
-
Pike, N. Using false discovery rates for multiple comparisons in ecology and evolution. Ecology and Evolution. 2011; 2: 278-282.
-
(2011)
Ecology and Evolution
, vol.2
, pp. 278-282
-
-
Pike, N.1
-
24
-
-
78449250235
-
Facioscapulohumeral dystrophy: Incomplete suppression of a retrotrans-posed gene
-
Snider, L., Geng, L. N., Lemmers, R. J., et al. Facioscapulohumeral dystrophy: Incomplete suppression of a retrotrans-posed gene. PLoS Genet. 2010; 6: e1001181.
-
(2010)
Plos Genet
, vol.6
, pp. e1001181
-
-
Snider, L.1
Geng, L.N.2
Lemmers, R.J.3
-
26
-
-
84870178868
-
Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: Potential for attenuation of myofiber necrosis
-
De Paepe, B., Creus, K. K., Martin, J. J., De Bleecker, J. L. Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: Potential for attenuation of myofiber necrosis. Muscle Nerve. 2012; 46: 917-925.
-
(2012)
Muscle Nerve
, vol.46
, pp. 917-925
-
-
De Paepe, B.1
Creus, K.K.2
Martin, J.J.3
De Bleecker, J.L.4
-
27
-
-
0037373615
-
Persistent over-expression of specific CC class chemokines correlates with macrophage and T-cell recruitment in mdx skeletal muscle
-
Porter, J. D., Guo, W., Merriam, A. P., et al. Persistent over-expression of specific CC class chemokines correlates with macrophage and T-cell recruitment in mdx skeletal muscle. Neuromuscul Disord. 2003; 13: 223-235.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 223-235
-
-
Porter, J.D.1
Guo, W.2
Merriam, A.P.3
-
28
-
-
84871155409
-
Requirement of plasminogen binding to its cell-surface receptor alpha-enolase for efficient regeneration of normal and dystrophic skeletal muscle
-
Diaz-Ramos, A., Roig-Borrellas, A., Garcia-Melero, A., Llorens, A., Lopez-Alemany, R. Requirement of plasminogen binding to its cell-surface receptor alpha-enolase for efficient regeneration of normal and dystrophic skeletal muscle. PLoS One. 2012; 7: e50477.
-
(2012)
Plos One
, vol.7
, pp. e50477
-
-
Diaz-Ramos, A.1
Roig-Borrellas, A.2
Garcia-Melero, A.3
Llorens, A.4
Lopez-Alemany, R.5
-
29
-
-
0142061003
-
Plasmin generation dependent on alpha-enolase-type plasminogen receptor is required for myogenesis
-
Lopez-Alemany, R., Suelves, M., Munoz-Canoves, P. Plasmin generation dependent on alpha-enolase-type plasminogen receptor is required for myogenesis. Thromb Haemost. 2003; 90: 724-733.
-
(2003)
Thromb Haemost
, vol.90
, pp. 724-733
-
-
Lopez-Alemany, R.1
Suelves, M.2
Munoz-Canoves, P.3
-
30
-
-
0034840494
-
Increased levels of tPA antigen and tPA/PAI-1 complex in myotonic dystrophy
-
Johansson, A., Boman, K., Cederquist, K., Forsberg, H., Ols-son, T. Increased levels of tPA antigen and tPA/PAI-1 complex in myotonic dystrophy. J Intern Med. 2001; 249: 503-510.
-
(2001)
J Intern Med
, vol.249
, pp. 503-510
-
-
Johansson, A.1
Boman, K.2
Cederquist, K.3
Forsberg, H.4
Ols-Son, T.5
-
31
-
-
0032909695
-
Insulin regulation of leptin synthesis and secretion in humans: The model of myotonic dystrophy
-
Gomez, J. M., Molina, A., Fernandez-Castaner, M., Casamit-jana, R., Martinez-Matos, J. A., Soler, J. Insulin regulation of leptin synthesis and secretion in humans: The model of myotonic dystrophy. Clin Endocrinol (Oxf). 1999; 50: 569-575.
-
(1999)
Clin Endocrinol (oxf)
, vol.50
, pp. 569-575
-
-
Gomez, J.M.1
Molina, A.2
Fernandez-Castaner, M.3
Casamit-Jana, R.4
Martinez-Matos, J.A.5
Soler, J.6
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