(Q34781987)

4 August 2017

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. (English)

1 reference

4 August 2017

20

Peter Nürnberg

1 reference

4 August 2017

Elisabeth Ehler

3

0 references

Simone Spuler

18

object named as

Simone Spuler

1 reference

4 August 2017

8

Katrin Wenzel

1 reference

4 August 2017

Christian Geier

1

1 reference

4 August 2017

Katja Gehmlich

2

1 reference

4 August 2017

Sabine Hassfeld

4

1 reference

4 August 2017

Andreas Perrot

5

1 reference

4 August 2017

Katrin Hayess

6

1 reference

4 August 2017

Nuno Cardim

7

1 reference

4 August 2017

Bettina Erdmann

9

1 reference

4 August 2017

Florian Krackhardt

10

1 reference

4 August 2017

Maximilian G Posch

11

1 reference

4 August 2017

Karl J Osterziel

12

1 reference

4 August 2017

Angelika Bublak

13

1 reference

4 August 2017

Herbert Nägele

14

1 reference

4 August 2017

Thomas Scheffold

15

1 reference

4 August 2017

Rainer Dietz

16

1 reference

4 August 2017

Kenneth R Chien

17

1 reference

4 August 2017

Dieter O Fürst

19

1 reference

4 August 2017

Cemil Ozcelik

21

1 reference

4 August 2017

27 May 2008

1 reference

4 August 2017

Human Molecular Genetics

1 reference

4 August 2017

17

1 reference

4 August 2017

2753-2765

1 reference

4 August 2017

18

1 reference

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

4 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Reversal of calcium cycling defects in advanced heart failure toward molecular therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Comparison of three members of the cysteine-rich protein family reveals functional conservation and divergent patterns of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Alterations at the intercalated disk associated with the absence of muscle LIM protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

The genetic basis for cardiac remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Muscle LIM protein plays both structural and functional roles in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Familial hypertrophic cardiomyopathy: from mutations to functional defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Cytoskeletal structure and recovery in single human cardiac myocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Paxillin and ponsin interact in nascent costameres of muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

Epidemiology of Hypertrophic Cardiomyopathy–Related Death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN160

21 January 2018

Identifiers

DOI

10.1093/HMG/DDN160

1 reference

4 August 2017

1 reference