-
1
-
-
79953842000
-
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy
-
Hershberger, R.E. and Siegfried, J.D. (2011) Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol., 57, 1641-1649.
-
(2011)
J. Am. Coll. Cardiol.
, vol.57
, pp. 1641-1649
-
-
Hershberger, R.E.1
Siegfried, J.D.2
-
2
-
-
68849104798
-
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
-
Goldfarb, L.G. and Dalakas, M.C. (2009) Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J. Clin. Invest., 119, 1806-1813.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 1806-1813
-
-
Goldfarb, L.G.1
Dalakas, M.C.2
-
3
-
-
84858082659
-
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
-
Wahbi, K., Behin, A., Charron, P., Dunand, M., Richard, P., Meune, C., Vicart, P., Laforet, P., Stojkovic, T., Becane, H.M. et al. (2012) High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. Neuromuscul. Disord., 22, 211-218.
-
(2012)
Neuromuscul. Disord.
, vol.22
, pp. 211-218
-
-
Wahbi, K.1
Behin, A.2
Charron, P.3
Dunand, M.4
Richard, P.5
Meune, C.6
Vicart, P.7
Laforet, P.8
Stojkovic, T.9
Becane, H.M.10
-
4
-
-
84865210197
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
-
Hedberg, C., Melberg, A., Kuhl, A., Jenne, D. and Oldfors, A. (2012) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur. J. Hum. Genet., 20, 984-985.
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 984-985
-
-
Hedberg, C.1
Melberg, A.2
Kuhl, A.3
Jenne, D.4
Oldfors, A.5
-
6
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad, M.J., Ng, S.B., Bigham, A.W., Tabor, H.K., Emond, M.J., Nickerson, D.A. and Shendure, J. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet., 12, 745-755.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
7
-
-
79955929421
-
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
-
Norton, N., Li, D., Rieder, M.J., Siegfried, J.D., Rampersaud, E., Zuchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S. et al. (2011) Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am. J. Hum. Genet., 88, 273-282.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 273-282
-
-
Norton, N.1
Li, D.2
Rieder, M.J.3
Siegfried, J.D.4
Rampersaud, E.5
Zuchner, S.6
Mangos, S.7
Gonzalez-Quintana, J.8
Wang, L.9
McGee, S.10
-
8
-
-
84860826709
-
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era
-
Norton, N., Robertson, P.D., Rieder, M.J., Zuchner, S., Rampersaud, E., Martin, E., Li, D., Nickerson, D.A. and Hershberger, R.E. (2012) Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ. Cardiovasc. Genet., 5, 167-174.
-
(2012)
Circ. Cardiovasc. Genet.
, vol.5
, pp. 167-174
-
-
Norton, N.1
Robertson, P.D.2
Rieder, M.J.3
Zuchner, S.4
Rampersaud, E.5
Martin, E.6
Li, D.7
Nickerson, D.A.8
Hershberger, R.E.9
-
9
-
-
0026642190
-
Molecular basis of AMP deaminase deficiency in skeletal muscle
-
Morisaki, T., Gross, M., Morisaki, H., Pongratz, D., Zollner, N. and Holmes, E.W. (1992) Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc. Natl Acad. Sci. USA, 89, 6457-6461.
-
(1992)
Proc. Natl Acad. Sci. USA
, vol.89
, pp. 6457-6461
-
-
Morisaki, T.1
Gross, M.2
Morisaki, H.3
Pongratz, D.4
Zollner, N.5
Holmes, E.W.6
-
10
-
-
0028024438
-
Colocalization of nestin and vimentin/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy
-
Sjöberg, G., Jiang, W.Q., Ringertz, N.R., Lendahl, U. and Sejersen, T. (1994) Colocalization of nestin and vimentin/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy. Exp. Cell Res., 214, 447-458.
-
(1994)
Exp. Cell Res.
, vol.214
, pp. 447-458
-
-
Sjöberg, G.1
Jiang, W.Q.2
Ringertz, N.R.3
Lendahl, U.4
Sejersen, T.5
-
11
-
-
78649507841
-
ROCK inhibition facilitates the generation of human-induced pluripotent stem cells in a defined, feeder-, and serum-free system
-
Lai, W.H., Ho, J.C., Lee, Y.K., Ng, K.M., Au, K.W., Chan, Y.C., Lau, C.P., Tse, H.F. and Siu, C.W. (2010) ROCK inhibition facilitates the generation of human-induced pluripotent stem cells in a defined, feeder-, and serum-free system. Cell. Reprogram., 12, 641-653.
-
(2010)
Cell. Reprogram.
, vol.12
, pp. 641-653
-
-
Lai, W.H.1
Ho, J.C.2
Lee, Y.K.3
Ng, K.M.4
Au, K.W.5
Chan, Y.C.6
Lau, C.P.7
Tse, H.F.8
Siu, C.W.9
-
12
-
-
84861572384
-
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
-
Larsen, M.K., Nissen, P.H., Berge, K.E., Leren, T.P., Kristensen, I.B., Jensen, H.K. and Banner, J. (2012) Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. Forensic Sci. Int., 219, 33-38.
-
(2012)
Forensic Sci. Int.
, vol.219
, pp. 33-38
-
-
Larsen, M.K.1
Nissen, P.H.2
Berge, K.E.3
Leren, T.P.4
Kristensen, I.B.5
Jensen, H.K.6
Banner, J.7
-
13
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K. and Yamanaka, S. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell, 131, 861-872.
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
14
-
-
79960122427
-
Generation of induced pluripotent stem cells from urine
-
Zhou, T., Benda, C., Duzinger, S., Huang, Y., Li, X., Li, Y., Guo, X., Cao, G., Chen, S., Hao, L. et al. (2011) Generation of induced pluripotent stem cells from urine. J. Am. Soc. Nephrol., 22, 1221-1228.
-
(2011)
J. Am. Soc. Nephrol.
, vol.22
, pp. 1221-1228
-
-
Zhou, T.1
Benda, C.2
Duzinger, S.3
Huang, Y.4
Li, X.5
Li, Y.6
Guo, X.7
Cao, G.8
Chen, S.9
Hao, L.10
-
15
-
-
33748356477
-
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
-
Goudeau, B., Rodrigues-Lima, F., Fischer, D., Casteras-Simon, M., Sambuughin, N., de Visser, M., Laforet, P., Ferrer, X., Chapon, F., Sjoberg, G. et al. (2006) Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum. Mutat., 27, 906-913.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 906-913
-
-
Goudeau, B.1
Rodrigues-Lima, F.2
Fischer, D.3
Casteras-Simon, M.4
Sambuughin, N.5
de Visser, M.6
Laforet, P.7
Ferrer, X.8
Chapon, F.9
Sjoberg, G.10
-
16
-
-
0034673647
-
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
-
Dalakas, M.C., Park, K.Y., Semino-Mora, C., Lee, H.S., Sivakumar, K. and Goldfarb, L.G. (2000) Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N. Engl. J. Med., 342, 770-780.
-
(2000)
N. Engl. J. Med.
, vol.342
, pp. 770-780
-
-
Dalakas, M.C.1
Park, K.Y.2
Semino-Mora, C.3
Lee, H.S.4
Sivakumar, K.5
Goldfarb, L.G.6
-
17
-
-
77950518810
-
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain
-
Vernengo, L., Chourbagi, O., Panuncio, A., Lilienbaum, A., Batonnet-Pichon, S., Bruston, F., Rodrigues-Lima, F., Mesa, R., Pizzarossa, C., Demay, L. et al. (2010) Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. Neuromuscul. Disord., 20, 178-187.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 178-187
-
-
Vernengo, L.1
Chourbagi, O.2
Panuncio, A.3
Lilienbaum, A.4
Batonnet-Pichon, S.5
Bruston, F.6
Rodrigues-Lima, F.7
Mesa, R.8
Pizzarossa, C.9
Demay, L.10
-
18
-
-
79951792793
-
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene
-
Hong, D., Wang, Z., Zhang, W., Xi, J., Lu, J., Luan, X. and Yuan, Y. (2011) A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. Neuropathol. Appl. Neurobiol., 37, 257-270.
-
(2011)
Neuropathol. Appl. Neurobiol.
, vol.37
, pp. 257-270
-
-
Hong, D.1
Wang, Z.2
Zhang, W.3
Xi, J.4
Lu, J.5
Luan, X.6
Yuan, Y.7
-
19
-
-
3042778127
-
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
-
Sjöberg, G., Saavedra-Matiz, C.A., Rosen, D.R., Wijsman, E.M., Borg, K., Horowitz, S.H. and Sejersen, T. (1999) A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum. Mol. Genet., 8, 2191-2198.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2191-2198
-
-
Sjöberg, G.1
Saavedra-Matiz, C.A.2
Rosen, D.R.3
Wijsman, E.M.4
Borg, K.5
Horowitz, S.H.6
Sejersen, T.7
-
20
-
-
0038669889
-
A dysfunctional desmin mutation in a patient with severe generalized myopathy
-
Muñoz-Mármol, A.M., Strasser, G., Isamat, M., Coulombe, P.A., Yang, Y., Roca, X., Vela, E., Mate, J.L., Coll, J., Fernández-Figueras, M.T. et al. (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc. Natl Acad. Sci. USA, 95, 11312-11317.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 11312-11317
-
-
Muñoz-Mármol, A.M.1
Strasser, G.2
Isamat, M.3
Coulombe, P.A.4
Yang, Y.5
Roca, X.6
Vela, E.7
Mate, J.L.8
Coll, J.9
Fernández-Figueras, M.T.10
-
21
-
-
79951941623
-
Myofibrillar myopathies
-
Selcen, D. (2011) Myofibrillar myopathies. Neuromuscul. Disord., 21, 161-171.
-
(2011)
Neuromuscul. Disord.
, vol.21
, pp. 161-171
-
-
Selcen, D.1
-
22
-
-
77951770756
-
BEDTools: a flexible suite of utilities for comparing genomic features
-
Quinlan, A.R. and Hall, I.M. (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics, 26, 841-842.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
23
-
-
36448991500
-
Clustal W and Clustal X version 2.0
-
Larkin, M.A., Blackshields, G., Brown, N.P., Chenna, R., McGettigan, P.A., McWilliam, H., Valentin, F., Wallace, I.M., Wilm, A., Lopez, R. et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics, 23, 2947-2948.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
McWilliam, H.6
Valentin, F.7
Wallace, I.M.8
Wilm, A.9
Lopez, R.10
-
24
-
-
77956295988
-
The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M. et al. (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res., 20, 1297-1303.
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
-
25
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
26
-
-
84860147579
-
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
-
Li, M.X., Gui, H.S., Kwan, J.S., Bao, S.Y. and Sham, P.C. (2012) A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res., 40, e53.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Li, M.X.1
Gui, H.S.2
Kwan, J.S.3
Bao, S.Y.4
Sham, P.C.5
-
27
-
-
79960976768
-
UniProt knowledgebase: a hub of integrated protein data
-
bar009
-
Magrane, M. and Consortium, U. (2011) UniProt knowledgebase: a hub of integrated protein data. Database (Oxford), 2011, bar009
-
(2011)
Database (Oxford)
, vol.2011
-
-
Magrane, M.1
Consortium, U.2
|