L. Thierfelder

Publication List Details

Period

1991 - 2006

Number

14

Co-Authors

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy (2006)

Gerull, B, Atherton, J, Geupel, A, Sasse-Klaassen, S, Heuser, A, Frenneaux, M, ...

Dilated cardiomyopathy (DCM) is an etiologically heterogeneous cardiac disease characterized by left ventricular dilation and systolic dysfunction. Approximately 25-30% of DCM patients show a family...

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy (2006)

Gerull, B, Atherton, J, Geupel, A, Sasse-Klaassen, S, Heuser, A, Frenneaux, M, ...

Dilated cardiomyopathy (DCM) is an etiologically heterogeneous cardiac disease characterized by left ventricular dilation and systolic dysfunction. Approximately 25-30% of DCM patients show a family...

The heart in heart failure: Ventricular and myocardial alterations (1991)

Holubarsch, C., Hasenfuss, G., Thierfelder, L., Pieske, B., Just, H.

In heart failure, many alterations occur in the ventricle as a whole, as well as in the myocardial cell. In the first part of this review we report on the macroscopic structure of the left ventricle...

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

Thierfelder, L, MacRae, C, Watkins, H, Tomfohrde, J, Williams, M, McKenna, W, ...

We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin,...

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

Anan, R, Greve, G, Thierfelder, L, Watkins, H, McKenna, W J, Solomon, S, ...

Three novel beta cardiac myosin heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in...

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

Watkins, H, Thierfelder, L, Hwang, D S, McKenna, W, Seidman, J G, Seidman, C E

Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. While missense mutations in the beta cardiac myosin heavy chain...

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

Watkins, H, Thierfelder, L, Anan, R, Jarcho, J, Matsumori, A, McKenna, W, ...

The origins of the beta cardiac myosin heavy-chain (MHC) gene missense mutations that cause familial hypertrophic cardiomyopathy (FHC) in 14 families have been evaluated. Of eight different...

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

Thierfelder, L, MacRae, C, Watkins, H, Tomfohrde, J, Williams, M, McKenna, W, ...

We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin,...

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

Anan, R, Greve, G, Thierfelder, L, Watkins, H, McKenna, W J, Solomon, S, ...

Three novel beta cardiac myosin heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in...

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

Watkins, H, Thierfelder, L, Hwang, D S, McKenna, W, Seidman, J G, Seidman, C E

Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. While missense mutations in the beta cardiac myosin heavy chain...

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

Watkins, H, Thierfelder, L, Anan, R, Jarcho, J, Matsumori, A, McKenna, W, ...

The origins of the beta cardiac myosin heavy-chain (MHC) gene missense mutations that cause familial hypertrophic cardiomyopathy (FHC) in 14 families have been evaluated. Of eight different...