-
1
-
-
0021346026
-
Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M-mode and two-dimensional echocardiography
-
Maron BJ, Nichols PF, Pickle LW, et al. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol 1984;53:1087-94.
-
(1984)
Am J Cardiol
, vol.53
, pp. 1087-1094
-
-
Maron, B.J.1
Nichols, P.F.2
Pickle, L.W.3
-
2
-
-
0026485701
-
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations
-
Watkins H, Thierfelder L, Hwang D, et al. Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest 1992;90:1666-71.
-
(1992)
J Clin Invest
, vol.90
, pp. 1666-1671
-
-
Watkins, H.1
Thierfelder, L.2
Hwang, D.3
-
3
-
-
0027070276
-
Detection of a new mutation in the β-myosin heavy chain gene in an individual with hyperthophic cardiomyopathy
-
Marian AJ, Yu Q, Mares A Jr, et al. Detection of a new mutation in the β-myosin heavy chain gene in an individual with hyperthophic cardiomyopathy. J Clin Invest 1992;90: 2156-65.
-
(1992)
J Clin Invest
, vol.90
, pp. 2156-2165
-
-
Marian, A.J.1
Yu, Q.2
Mares Jr., A.3
-
4
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H, Rosenzweig A, Hwang D, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-14.
-
(1992)
N Engl J Med
, vol.326
, pp. 1108-1114
-
-
Watkins, H.1
Rosenzweig, A.2
Hwang, D.3
-
5
-
-
0027221634
-
Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
-
Fananapazir L, Dalakas MC, Cyran F, et al. Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993;90:3993-7.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 3993-3997
-
-
Fananapazir, L.1
Dalakas, M.C.2
Cyran, F.3
-
6
-
-
0027504548
-
Independent origin of identical β cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
-
Watkins H, Thierfelder L, Anan R, et al. Independent origin of identical β cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet 1993;53: 1180-5.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1180-1185
-
-
Watkins, H.1
Thierfelder, L.2
Anan, R.3
-
7
-
-
0027379768
-
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy
-
Moolman J, Brink PA, Corfield VA. Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mol Genet 1993;2:1731-2.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1731-1732
-
-
Moolman, J.1
Brink, P.A.2
Corfield, V.A.3
-
8
-
-
0026409603
-
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes
-
Rosenzweig A, Watkins H, Hwang DS, et al. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 1991; 325:1753-60.
-
(1991)
N Engl J Med
, vol.325
, pp. 1753-1760
-
-
Rosenzweig, A.1
Watkins, H.2
Hwang, D.S.3
-
9
-
-
0027954269
-
Prognostic implications of novel β cardiac myosin heavy chian gene mutations that cause familial hypertrophic cardiomyopathy
-
Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel β cardiac myosin heavy chian gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
-
(1994)
J Clin Invest
, vol.93
, pp. 280-285
-
-
Anan, R.1
Greve, G.2
Thierfelder, L.3
-
10
-
-
0029024879
-
Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
-
Rayment I, Holden HM, Sellers JR, et al. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1995;92:3864-8.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 3864-3868
-
-
Rayment, I.1
Holden, H.M.2
Sellers, J.R.3
-
11
-
-
0030046902
-
Contractile protein mutations and heart disease
-
Vikstrom KL, Leinward LA. Contractile protein mutations and heart disease. Curr Opin Cell Biol 1996;8:97-105.
-
(1996)
Curr Opin Cell Biol
, vol.8
, pp. 97-105
-
-
Vikstrom, K.L.1
Leinward, L.A.2
-
12
-
-
0028886136
-
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
-
Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40.
-
(1995)
Nat Genet
, vol.11
, pp. 438-440
-
-
Bonne, G.1
Carrier, L.2
Bercovici, J.3
-
13
-
-
0028178083
-
α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
-
Thierfelder L, Watkins H, MacRae C, et al. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
-
(1994)
Cell
, vol.77
, pp. 701-712
-
-
Thierfelder, L.1
Watkins, H.2
MacRae, C.3
-
14
-
-
0031042881
-
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene
-
Coviello DA, Maron BJ, Spirito P, et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol 1997;29:635-40.
-
(1997)
J Am Coll Cardiol
, vol.29
, pp. 635-640
-
-
Coviello, D.A.1
Maron, B.J.2
Spirito, P.3
-
15
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
-
Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332: 1058-64.
-
(1995)
N Engl J Med
, vol.332
, pp. 1058-1064
-
-
Watkins, H.1
McKenna, W.J.2
Thierfelder, L.3
-
16
-
-
15844400653
-
Mutation in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
Poetter K, Jiang H, Hassanzadeh S, et al. Mutation in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-9.
-
(1996)
Nat Genet
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
-
17
-
-
0025807222
-
Maternally inherited myopathy and cardiomyopathy: Association with mutation in mitochondrial DNA tRNA(Leu)(UUR)
-
Zeviani M, Gellera G, Antozzi C, et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 1991; 338:143-7.
-
(1991)
Lancet
, vol.338
, pp. 143-147
-
-
Zeviani, M.1
Gellera, G.2
Antozzi, C.3
-
18
-
-
0028070162
-
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNAglycine gene
-
Merante F, Tein I, Benson L, et al. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNAglycine gene. Am J Hum Genet 1994;55:437-46.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 437-446
-
-
Merante, F.1
Tein, I.2
Benson, L.3
-
19
-
-
0029116474
-
Novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C, Santorelli F, D'Amati G, et al. Novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995;213:588-93.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.2
D'Amati, G.3
-
20
-
-
0029835998
-
An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
-
Merante F, Myint T, Tein I, et al. An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996;8:216-22.
-
(1996)
Hum Mutat
, vol.8
, pp. 216-222
-
-
Merante, F.1
Myint, T.2
Tein, I.3
-
22
-
-
0029962873
-
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)
-
Santorelli FM, Mak S, El-Schahawi M, et al. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A). Am J Hum Genet 1996;58:933-9.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 933-939
-
-
Santorelli, F.M.1
Mak, S.2
El-Schahawi, M.3
-
23
-
-
0028786838
-
A novel mitochondrial DNA point mutation associated with mitochondrial encephalomyopathy
-
Santorelli FM, Mak S, Vazquez-Aceredo M, et al. A novel mitochondrial DNA point mutation associated with mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1995;216:835-40.
-
(1995)
Biochem Biophys Res Commun
, vol.216
, pp. 835-840
-
-
Santorelli, F.M.1
Mak, S.2
Vazquez-Aceredo, M.3
-
24
-
-
0026468520
-
Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
-
Obayashi T, Hattori K, Sugiyama S, et al. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 1992;124:1263-9.
-
(1992)
Am Heart J
, vol.124
, pp. 1263-1269
-
-
Obayashi, T.1
Hattori, K.2
Sugiyama, S.3
-
25
-
-
0028012201
-
A new mtDNA mutations in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy
-
Silvestri G, Santorelli FM, Shanske S, et al. A new mtDNA mutations in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994;3: 37-43.
-
(1994)
Hum Mutat
, vol.3
, pp. 37-43
-
-
Silvestri, G.1
Santorelli, F.M.2
Shanske, S.3
-
27
-
-
0023476285
-
Detection and localization of single base change by denaturing gradient gel electrophoresis
-
Myers RM, Maniatis T, Lerman LS. Detection and localization of single base change by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:501-27.
-
(1987)
Methods Enzymol
, vol.155
, pp. 501-527
-
-
Myers, R.M.1
Maniatis, T.2
Lerman, L.S.3
-
28
-
-
0028872087
-
Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis
-
Sartore M, Grasso M, Piccolo G, et al. Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis. Biochem Mol Med 1995;56: 45-51.
-
(1995)
Biochem Mol Med
, vol.56
, pp. 45-51
-
-
Sartore, M.1
Grasso, M.2
Piccolo, G.3
-
29
-
-
0025007358
-
The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its products
-
Jaenicke T, Diederich KW, Haas W, et al. The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its products. Genomics 1990;8: 194-206.
-
(1990)
Genomics
, vol.8
, pp. 194-206
-
-
Jaenicke, T.1
Diederich, K.W.2
Haas, W.3
-
30
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrel 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
Barrel, B.G.3
-
31
-
-
0025048907
-
Expression of natriuretic peptide in ventricular myocardium of failing human hearts and its correlation with the severity of clinical and heamodynamic impairement
-
Arbustini E, Pucci A, Grasso M, et al. Expression of natriuretic peptide in ventricular myocardium of failing human hearts and its correlation with the severity of clinical and heamodynamic impairement. Am J Cardiol 1990;66:973-80.
-
(1990)
Am J Cardiol
, vol.66
, pp. 973-980
-
-
Arbustini, E.1
Pucci, A.2
Grasso, M.3
-
32
-
-
0016711253
-
Ragged red fibers. A biochemical and morphological study
-
Block JT, Judge D, Demers L, et al. Ragged red fibers. A biochemical and morphological study. J Neurol Sci 1975;26:479-88.
-
(1975)
J Neurol Sci
, vol.26
, pp. 479-488
-
-
Block, J.T.1
Judge, D.2
Demers, L.3
-
33
-
-
0028952803
-
Human heart mast cells. Isolation, purification, ulrastructure and immunological characterization
-
Patella V, Marino I, Lamparter B, et al. Human heart mast cells. Isolation, purification, ulrastructure and immunological characterization. J Immunol 1995;154:2855-65.
-
(1995)
J Immunol
, vol.154
, pp. 2855-2865
-
-
Patella, V.1
Marino, I.2
Lamparter, B.3
-
34
-
-
0014059118
-
An electron transfer system associated with the outer membrane of the mitochondria
-
Sottocasa GL, Kuylenstierna B, Ernster L, et al. An electron transfer system associated with the outer membrane of the mitochondria. J Cell Biol 1967;32:415-38.
-
(1967)
J Cell Biol
, vol.32
, pp. 415-438
-
-
Sottocasa, G.L.1
Kuylenstierna, B.2
Ernster, L.3
-
35
-
-
77956987911
-
Preparation and properties of soluble NADH dehydrogenase from cardiac muscle
-
King TE, Howard RL. Preparation and properties of soluble NADH dehydrogenase from cardiac muscle. Methods Enzymol 1967;10:322-31.
-
(1967)
Methods Enzymol
, vol.10
, pp. 322-331
-
-
King, T.E.1
Howard, R.L.2
-
36
-
-
77956987911
-
Preparation of succinate dehydrogenase and reconstitution of succinate oxidase
-
King TE, Howard RL. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. Methods Enzymol 1967;10:322-31.
-
(1967)
Methods Enzymol
, vol.10
, pp. 322-331
-
-
King, T.E.1
Howard, R.L.2
-
37
-
-
0026551039
-
Genetic variation at the five trimeric and tetrameric tandem repeat loci in four human population groups
-
Edwards A, Hammond HA, Jin L, et al. Genetic variation at the five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 1992;12:241-53.
-
(1992)
Genomics
, vol.12
, pp. 241-253
-
-
Edwards, A.1
Hammond, H.A.2
Jin, L.3
-
38
-
-
0029916911
-
The SWISS-PROT protein sequence data bank and its new supplement TrEMBL
-
Bairoch A, Apweiler R. The SWISS-PROT protein sequence data bank and its new supplement TrEMBL. Nucleic Acids Res 1996;24:21-5.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 21-25
-
-
Bairoch, A.1
Apweiler, R.2
-
39
-
-
0023889215
-
Variability in the activity of respiratory chain enzymes in mitochondrial myopathies
-
Koga Y, Nonaka I, Sunohara N, et al. Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol (Berl) 1988;76:135-41.
-
(1988)
Acta Neuropathol (Berl)
, vol.76
, pp. 135-141
-
-
Koga, Y.1
Nonaka, I.2
Sunohara, N.3
-
40
-
-
0029046428
-
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
-
Manfredi G, Schon EA, Moraes CT, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995;5:391-8.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 391-398
-
-
Manfredi, G.1
Schon, E.A.2
Moraes, C.T.3
|