-
1
-
-
33646693410
-
Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention
-
Maron B.J., Towbin J.A., Thiene G., Antzelevitch C., Corrado D., Arnett D., Moss A.J., Seidman C.E., Young J.B. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006, 113:1807-1816.
-
(2006)
Circulation
, vol.113
, pp. 1807-1816
-
-
Maron, B.J.1
Towbin, J.A.2
Thiene, G.3
Antzelevitch, C.4
Corrado, D.5
Arnett, D.6
Moss, A.J.7
Seidman, C.E.8
Young, J.B.9
-
2
-
-
33750121615
-
Incidence, causes, and outcomes of dilated cardiomyopathy in children
-
Towbin J.A., Lowe A.M., Colan S.D., Sleeper L.A., Orav E.J., Clunie S., Messere J., Cox G.F., Lurie P.R., Hsu D., Canter C., Wilkinson J.D., Lipshultz S.E. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006, 296:1867-1876.
-
(2006)
JAMA
, vol.296
, pp. 1867-1876
-
-
Towbin, J.A.1
Lowe, A.M.2
Colan, S.D.3
Sleeper, L.A.4
Orav, E.J.5
Clunie, S.6
Messere, J.7
Cox, G.F.8
Lurie, P.R.9
Hsu, D.10
Canter, C.11
Wilkinson, J.D.12
Lipshultz, S.E.13
-
3
-
-
39749103537
-
Sarcomeric proteins and inherited cardiomyopathies
-
Morimoto S. Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc. Res. 2008, 77:659-666.
-
(2008)
Cardiovasc. Res.
, vol.77
, pp. 659-666
-
-
Morimoto, S.1
-
4
-
-
23544467713
-
Bovine cardiomyopathy, pathomorphogenic and biochemical studies in yearling steers
-
König F., Zwahlen R., Schaller J., Kämpfer U., Roth D., Tontis A., Luginbühl H. Bovine cardiomyopathy, pathomorphogenic and biochemical studies in yearling steers. Schweiz. Arch. Tierheilkd 1990, 132:439-440.
-
(1990)
Schweiz. Arch. Tierheilkd
, vol.132
, pp. 439-440
-
-
König, F.1
Zwahlen, R.2
Schaller, J.3
Kämpfer, U.4
Roth, D.5
Tontis, A.6
Luginbühl, H.7
-
5
-
-
0025068501
-
Pathology of bovine cardiomyopathy
-
Tontis A., Zwahlen R., Lobsiger C., Luginbühl H. Pathology of bovine cardiomyopathy. Schweiz. Arch. Tierheilkd 1990, 132:105-116.
-
(1990)
Schweiz. Arch. Tierheilkd
, vol.132
, pp. 105-116
-
-
Tontis, A.1
Zwahlen, R.2
Lobsiger, C.3
Luginbühl, H.4
-
6
-
-
84995071710
-
Diagnosis of bovine cardiomyopathy by electrolyte and protein analysis
-
Graber H.U., Martig J. Diagnosis of bovine cardiomyopathy by electrolyte and protein analysis. Zentralbl. Veterinärmed. A 1993, 40:690-696.
-
(1993)
Zentralbl. Veterinärmed. A
, vol.40
, pp. 690-696
-
-
Graber, H.U.1
Martig, J.2
-
7
-
-
0020092220
-
Incidence of cardiac insufficiency in cattle, Preliminary report
-
Martig J., Tschudi P., Perritaz C., Tontis A., Luginbühl H. Incidence of cardiac insufficiency in cattle, Preliminary report. Schweizer Arch. Tierheilkd. 1982, 124:69-82.
-
(1982)
Schweizer Arch. Tierheilkd.
, vol.124
, pp. 69-82
-
-
Martig, J.1
Tschudi, P.2
Perritaz, C.3
Tontis, A.4
Luginbühl, H.5
-
8
-
-
0002661925
-
Clinical and clinico-pathological studies on idiopathic congestive cardiomyopathy in cattle
-
Sonoda M., Takahashi K., Kurosawa T., Matsukawa K., Chiyada Y. Clinical and clinico-pathological studies on idiopathic congestive cardiomyopathy in cattle. Proceedings of the 12th World Congress on Diseases of Cattle, 7-10 September 1982, Amsterdam, The Netherlands 1982, 1187-1191.
-
(1982)
Proceedings of the 12th World Congress on Diseases of Cattle, 7-10 September 1982, Amsterdam, The Netherlands
, pp. 1187-1191
-
-
Sonoda, M.1
Takahashi, K.2
Kurosawa, T.3
Matsukawa, K.4
Chiyada, Y.5
-
9
-
-
0002666641
-
Dilated (congestive) cardiomyopathy in Holstein cattle in Canada, Genetic analysis of 25 cases
-
Baird J.D., Maxie M.C., Kennedy B.W., Harris D.J. Dilated (congestive) cardiomyopathy in Holstein cattle in Canada, Genetic analysis of 25 cases. Proceedings of the 14th World Congress on Diseases of Cattle, 26-29 August 1986, Dublin, Ireland 1986, 89-94.
-
(1986)
Proceedings of the 14th World Congress on Diseases of Cattle, 26-29 August 1986, Dublin, Ireland
, pp. 89-94
-
-
Baird, J.D.1
Maxie, M.C.2
Kennedy, B.W.3
Harris, D.J.4
-
10
-
-
0032110404
-
Evidence for autosomal recessive inheritance of a major gene for bovine dilated cardiomyopathy
-
Dolf G., Stricker C., Tontis A., Martig J., Gaillard C. Evidence for autosomal recessive inheritance of a major gene for bovine dilated cardiomyopathy. J. Anim. Sci. 1998, 76:1824-1829.
-
(1998)
J. Anim. Sci.
, vol.76
, pp. 1824-1829
-
-
Dolf, G.1
Stricker, C.2
Tontis, A.3
Martig, J.4
Gaillard, C.5
-
12
-
-
62749122683
-
The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18
-
Owczarek-Lipska M., Denis C., Eggen A., Leeb T., Posthaus H., Dolf G., Braunschweig M.H. The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18. Mamm. Genome 2009, 20:187-192.
-
(2009)
Mamm. Genome
, vol.20
, pp. 187-192
-
-
Owczarek-Lipska, M.1
Denis, C.2
Eggen, A.3
Leeb, T.4
Posthaus, H.5
Dolf, G.6
Braunschweig, M.H.7
-
13
-
-
38849112595
-
A missense mutation in the murine Opa3 gene models human Costeff syndrome
-
Davies V.J., Powell K.A., White K.E., Yip W., Hogan V., Hollins A.J., Davies J.R., Piechota M., Brownstein D.G., Moat S.J., Nichols P.P., Wride M.A., Boulton M.E., Votruba M. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 2008, 131:368-380.
-
(2008)
Brain
, vol.131
, pp. 368-380
-
-
Davies, V.J.1
Powell, K.A.2
White, K.E.3
Yip, W.4
Hogan, V.5
Hollins, A.J.6
Davies, J.R.7
Piechota, M.8
Brownstein, D.G.9
Moat, S.J.10
Nichols, P.P.11
Wride, M.A.12
Boulton, M.E.13
Votruba, M.14
-
14
-
-
0033020645
-
Sequence analysis and expression of the attachment and fusion proteins of canine distemper virus wild-type strain A75/17
-
Cherpillod P., Beck K., Zurbriggen A., Wittek R. Sequence analysis and expression of the attachment and fusion proteins of canine distemper virus wild-type strain A75/17. J. Virol. 1999, 73:2263-2269.
-
(1999)
J. Virol.
, vol.73
, pp. 2263-2269
-
-
Cherpillod, P.1
Beck, K.2
Zurbriggen, A.3
Wittek, R.4
-
15
-
-
70349784080
-
Conserved leucine residue in the head region of morbillivirus fusion protein regulates the large conformational change during fusion activity
-
Plattet P., Langedijk J.P., Zipperle L., Vandevelde M., Orvell C., Zurbriggen A. Conserved leucine residue in the head region of morbillivirus fusion protein regulates the large conformational change during fusion activity. Biochemistry 2009, 48:9112-9121.
-
(2009)
Biochemistry
, vol.48
, pp. 9112-9121
-
-
Plattet, P.1
Langedijk, J.P.2
Zipperle, L.3
Vandevelde, M.4
Orvell, C.5
Zurbriggen, A.6
-
16
-
-
0344009607
-
Disruption of cardiac Ena-VASP protein localization in intercalated disks causes dilated cardiomyopathy
-
Eigenthaler M., Engelhardt S., Schinke B., Kobsar A., Schmitteckert E., Gambaryan S., Engelhardt C.M., Krenn V., Eliava M., Jarchau T., Lohse M.J., Walter U., Hein L. Disruption of cardiac Ena-VASP protein localization in intercalated disks causes dilated cardiomyopathy. Am. J. Physiol. Heart Circ. Physiol. 2003, 285:2741-2784.
-
(2003)
Am. J. Physiol. Heart Circ. Physiol.
, vol.285
, pp. 2741-2784
-
-
Eigenthaler, M.1
Engelhardt, S.2
Schinke, B.3
Kobsar, A.4
Schmitteckert, E.5
Gambaryan, S.6
Engelhardt, C.M.7
Krenn, V.8
Eliava, M.9
Jarchau, T.10
Lohse, M.J.11
Walter, U.12
Hein, L.13
-
17
-
-
34249795152
-
The locus for bovine dilated cardiomyopathy maps to chromosome 18
-
Guziewicz K.E., Owczarek-Lipska M., Küffer J., Schelling C., Tontis A., Denis C., Eggen A., Leeb T., Dolf G., Braunschweig M.H. The locus for bovine dilated cardiomyopathy maps to chromosome 18. Anim. Genet. 2007, 38:265-269.
-
(2007)
Anim. Genet.
, vol.38
, pp. 265-269
-
-
Guziewicz, K.E.1
Owczarek-Lipska, M.2
Küffer, J.3
Schelling, C.4
Tontis, A.5
Denis, C.6
Eggen, A.7
Leeb, T.8
Dolf, G.9
Braunschweig, M.H.10
-
18
-
-
0030746291
-
Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques
-
Andreutti-Zaugg C., Scott R.J., Iggo R. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. Cancer Res. 1997, 57:3288-3293.
-
(1997)
Cancer Res.
, vol.57
, pp. 3288-3293
-
-
Andreutti-Zaugg, C.1
Scott, R.J.2
Iggo, R.3
-
19
-
-
0142071668
-
Proteomic analysis of the mouse liver mitochondrial inner membrane
-
Da Cruz S., Xenarios I., Langridge J., Vilbois F., Parone P.A., Martinou J.C. Proteomic analysis of the mouse liver mitochondrial inner membrane. J. Biol. Chem. 2003, 278:41566-41571.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 41566-41571
-
-
Da Cruz, S.1
Xenarios, I.2
Langridge, J.3
Vilbois, F.4
Parone, P.A.5
Martinou, J.C.6
-
20
-
-
77955709957
-
Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation
-
Ryu S.W., Jeong H.J., Choi M., Karbowski M., Choi C. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cell. Mol. Life Sci. 2010, 67:2839-2850.
-
(2010)
Cell. Mol. Life Sci.
, vol.67
, pp. 2839-2850
-
-
Ryu, S.W.1
Jeong, H.J.2
Choi, M.3
Karbowski, M.4
Choi, C.5
-
21
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y., Kleta R., Shaag A., Gahl W.A., Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 2001, 69:1218-1224.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
22
-
-
77955752917
-
A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3
-
Pei W., Kratz L.E., Bernardini I., Sood R., Yokogawa T., Dorward H., Ciccone C., Kelley R.I., Anikster Y., Burgess H.A., Huizing M., Feldman B. A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development 2010, 137:2587-2596.
-
(2010)
Development
, vol.137
, pp. 2587-2596
-
-
Pei, W.1
Kratz, L.E.2
Bernardini, I.3
Sood, R.4
Yokogawa, T.5
Dorward, H.6
Ciccone, C.7
Kelley, R.I.8
Anikster, Y.9
Burgess, H.A.10
Huizing, M.11
Feldman, B.12
-
23
-
-
58549115519
-
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle
-
Simpson M.A., Cook R.W., Solanki P., Patton M.A., Dennis J.A., Crosby A.H. A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim. Genet. 2008, 40:42-46.
-
(2008)
Anim. Genet.
, vol.40
, pp. 42-46
-
-
Simpson, M.A.1
Cook, R.W.2
Solanki, P.3
Patton, M.A.4
Dennis, J.A.5
Crosby, A.H.6
-
24
-
-
17644401441
-
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
-
Reynier P., Amati-Bonneau P., Verny C., Olichon A., Simard G., Guichet A., Bonnemains C., Malecaze F., Malinge M.C., Pelletier J.B., Calvas P., Dollfus H., Belenguer P., Malthièry Y., Lenaers G., Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J. Med. Genet. 2004, 41:e110.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Reynier, P.1
Amati-Bonneau, P.2
Verny, C.3
Olichon, A.4
Simard, G.5
Guichet, A.6
Bonnemains, C.7
Malecaze, F.8
Malinge, M.C.9
Pelletier, J.B.10
Calvas, P.11
Dollfus, H.12
Belenguer, P.13
Malthièry, Y.14
Lenaers, G.15
Bonneau, D.16
-
25
-
-
27944444154
-
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
-
Silvestri L., Caputo V., Bellacchio E., Atorino L., Dallapiccola B., Valente E.M., Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum. Mol. Genet. 2005, 14:3477-3492.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3477-3492
-
-
Silvestri, L.1
Caputo, V.2
Bellacchio, E.3
Atorino, L.4
Dallapiccola, B.5
Valente, E.M.6
Casari, G.7
-
26
-
-
0025951140
-
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
-
Kelley R.I., Cheatham J.P., Clark B.J., Nigro M.A., Powell B.R., Sherwood G.W., Sladky J.T., Swisher W.P. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J. Pediatr. 1991, 119:738-747.
-
(1991)
J. Pediatr.
, vol.119
, pp. 738-747
-
-
Kelley, R.I.1
Cheatham, J.P.2
Clark, B.J.3
Nigro, M.A.4
Powell, B.R.5
Sherwood, G.W.6
Sladky, J.T.7
Swisher, W.P.8
-
27
-
-
33646427709
-
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
-
Davey K.M., Parboosingh J.S., McLeod D.R., Chan A., Casey R., Ferreira P., Snyder F.F., Bridge P.J., Bernier F.P. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J. Med. Genet. 2006, 43:385-393.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 385-393
-
-
Davey, K.M.1
Parboosingh, J.S.2
McLeod, D.R.3
Chan, A.4
Casey, R.5
Ferreira, P.6
Snyder, F.F.7
Bridge, P.J.8
Bernier, F.P.9
-
28
-
-
84859893372
-
Costeff optic atrophy syndrome: new clinical case and novel molecular findings
-
Ho G., Walter J.H., Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J. Inherit. Metab. Dis. Short Rep. 2008, 134. 10.1007/s10545-008-0981-z.
-
(2008)
J. Inherit. Metab. Dis. Short Rep.
, vol.134
-
-
Ho, G.1
Walter, J.H.2
Christodoulou, J.3
-
29
-
-
19944371763
-
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
-
Neas K., Bennetts B., Carpenter K., White R., Kirk E.P., Wilson M., Kelley R., Baric I., Christodoulou J. OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. J. Inherit. Metab. Dis. 2005, 28:525-532.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 525-532
-
-
Neas, K.1
Bennetts, B.2
Carpenter, K.3
White, R.4
Kirk, E.P.5
Wilson, M.6
Kelley, R.7
Baric, I.8
Christodoulou, J.9
-
30
-
-
0036375019
-
3-methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings
-
Kleta R., Skovby F., Christensen E., Rosenberg T., Gahl W.A., Anikster Y. 3-methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol. Genet. Metab. 2002, 76:201-206.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 201-206
-
-
Kleta, R.1
Skovby, F.2
Christensen, E.3
Rosenberg, T.4
Gahl, W.A.5
Anikster, Y.6
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