-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290: 457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
0025934591
-
H and L ferritins in myocardium of iron overload patients. An immunohistochemical study
-
Arbustini E, Grasso M, Pucci A, et al. H and L ferritins in myocardium of iron overload patients. An immunohistochemical study. Am J Cardiol 1991;68:1233-6.
-
(1991)
Am J Cardiol
, vol.68
, pp. 1233-1236
-
-
Arbustini, E.1
Grasso, M.2
Pucci, A.3
-
3
-
-
18244413442
-
Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
-
Arbustini E, Diegoli M, Fasani R, et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998;153:1510-6.
-
(1998)
Am J Pathol
, vol.153
, pp. 1510-1516
-
-
Arbustini, E.1
Diegoli, M.2
Fasani, R.3
-
4
-
-
15644384508
-
Coexistence of mitochondrial DNA and beta-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
-
Arbustini E, Fasani R, Morbini P, et al. Coexistence of mitochondrial DNA and beta-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998; 80:548-58.
-
(1998)
Heart
, vol.80
, pp. 548-558
-
-
Arbustini, E.1
Fasani, R.2
Morbini, P.3
-
5
-
-
0032033780
-
Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits
-
Arbustini E, Morbini P, Grasso M, et al. Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 1998;31:645-53.
-
(1998)
J Am Coll Cardiol
, vol.31
, pp. 645-653
-
-
Arbustini, E.1
Morbini, P.2
Grasso, M.3
-
6
-
-
0034120286
-
Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy
-
in press
-
Arbustini E, Diegoli M, Morbini P, et al. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Col Cardiol 2000, in press.
-
(2000)
J Am Col Cardiol
-
-
Arbustini, E.1
Diegoli, M.2
Morbini, P.3
-
7
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-7.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
-
8
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
9
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky GL, Muntoni F, Miocic S, et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000;101:473-6.
-
(2000)
Circulation
, vol.101
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
-
10
-
-
0343640698
-
Heart-specific localization of emerin: New insights into Emery-Dreifuss muscular dystrophy
-
Cartegni L, di Barletta MR, Barresi R, et al. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1997;6:2257-64.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2257-2264
-
-
Cartegni, L.1
Di Barletta, M.R.2
Barresi, R.3
-
11
-
-
16944366521
-
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
-
D'Adamo P, Fassone L, Gedeon A. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997;61:862-7.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 862-867
-
-
D'Adamo, P.1
Fassone, L.2
Gedeon, A.3
-
12
-
-
0034673647
-
Desmin myopathy with cardiomyopathy caused by mutations in the desmin gene
-
Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-80.
-
(2000)
N Engl J Med
, vol.342
, pp. 770-780
-
-
Dalakas, M.C.1
Park, K.Y.2
Semino-Mora, C.3
-
14
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, etal. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341:1715-24.
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
-
15
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-3.
-
(1998)
Nat Genet
, vol.19
, pp. 402-403
-
-
Goldfarb, L.G.1
Park, K.Y.2
Cervenakova, L.3
-
16
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham BH, Waymire KG, Cottrell B, et al. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 1997;16:226-34.
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
-
17
-
-
0033520037
-
Desmin mutation responsible for idiopathic dilated cardiomyopathy
-
Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999;100: 461-4.
-
(1999)
Circulation
, vol.100
, pp. 461-464
-
-
Li, D.1
Tapscoft, T.2
Gonzalez, O.3
-
18
-
-
18744433901
-
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
-
Mogensen J, Klausen IC, Pedersen AK, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999;103:R39-43.
-
(1999)
J Clin Invest
, vol.103
-
-
Mogensen, J.1
Klausen, I.C.2
Pedersen, A.K.3
-
19
-
-
0027265702
-
Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Ganau A, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-3.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-923
-
-
Muntoni, F.1
Cau, M.2
Ganau, A.3
-
20
-
-
0028132560
-
Mutation of dystrophin gene and cardiomyopathy
-
Nigro G, Politano L, Nigro V, et al. Mutation of dystrophin gene and cardiomyopathy. Neuromusc Disord 1994;4:371-9.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 371-379
-
-
Nigro, G.1
Politano, L.2
Nigro, V.3
-
21
-
-
17644430698
-
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers
-
Sabatelli P, Squarzoni S, Petrini S, et al. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromusc Disord 1998;8: 67-71.
-
(1998)
Neuromusc Disord
, vol.8
, pp. 67-71
-
-
Sabatelli, P.1
Squarzoni, S.2
Petrini, S.3
-
22
-
-
0033366515
-
Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
-
Santorelli FM, Tanji K, Manta P, et al. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999;64:295-300.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 295-300
-
-
Santorelli, F.M.1
Tanji, K.2
Manta, P.3
-
24
-
-
0027193330
-
X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Wp21 locus
-
Towbin, JA, Ejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Wp21 locus. Circulation 1993;87:1854-65.
-
(1993)
Circulation
, vol.87
, pp. 1854-1865
-
-
Towbin, J.A.1
Ejtmancik, J.F.2
Brink, P.3
-
25
-
-
0029814021
-
Human desmin gene: CDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
-
Vicart P, Dupret JM, Hazan J, et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996;98:422-9.
-
(1996)
Hum Genet
, vol.98
, pp. 422-429
-
-
Vicart, P.1
Dupret, J.M.2
Hazan, J.3
-
26
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-5.
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
-
27
-
-
0024404741
-
Report of the Committee on human mitochondrial DNA
-
Wallace DC. Report of the Committee on human mitochondrial DNA. Cytogenet Cell Genet 1989;51:612-21.
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 612-621
-
-
Wallace, D.C.1
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