Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies

[1]  I. van der Made,et al.  RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling , 2018, Circulation.

[2]  Yao Wang,et al.  Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction. , 2018, Molecular medicine reports.

[3]  H. Servatius,et al.  Phenotypic Spectrum of HCN4 Mutations: A Clinical Case , 2018, Circulation. Genomic and precision medicine.

[4]  Karen S. Frese,et al.  Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy , 2017, European heart journal.

[5]  H. Aburatani,et al.  Identification of MYLK3 mutations in familial dilated cardiomyopathy , 2017, Scientific Reports.

[6]  R. Hinton,et al.  Genetic Testing in Pediatric Left Ventricular Noncompaction , 2017, Circulation. Cardiovascular genetics.

[7]  A. Tajik,et al.  Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy). , 2017, International journal of cardiology.

[8]  Jianhui Gong,et al.  Correction of a pathogenic gene mutation in human embryos , 2017, Nature.

[9]  Thomas V. Karathanos,et al.  Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm , 2017, Nature Communications.

[10]  L. Mestroni,et al.  Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy , 2017, Heart.

[11]  P. Stenson,et al.  The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies , 2017, Human Genetics.

[12]  J. Akey,et al.  Human RECQ Helicase Pathogenic Variants, Population Variation and “Missing” Diseases , 2017, Human mutation.

[13]  Karen S. Frese,et al.  Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals , 2017, Clinical Research in Cardiology.

[14]  Xiaoshu Cheng,et al.  Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis , 2017, Scientific Reports.

[15]  J. Towbin,et al.  Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. , 2017, American journal of human genetics.

[16]  C. Yancy,et al.  Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association. , 2016, Circulation.

[17]  R. Płoski,et al.  Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy , 2016, American Journal of Medical Genetics. Part A.

[18]  E. Arbustini,et al.  Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? , 2016, Journal of the American College of Cardiology.

[19]  Michael P Snyder,et al.  iPSC-derived cardiomyocytes reveal abnormal TGFβ signaling in left ventricular non-compaction cardiomyopathy , 2016, Nature Cell Biology.

[20]  T. Olson,et al.  Ebstein anomaly, left ventricular non‐compaction, and early onset heart failure associated with a de novo α‐tropomyosin gene mutation , 2016, American journal of medical genetics. Part A.

[21]  F. Scaglia,et al.  Mitochondrial Cardiomyopathies , 2016, Front. Cardiovasc. Med..

[22]  K. Costa,et al.  Genomic correction of familial cardiomyopathy in human engineered cardiac tissues. , 2016, European heart journal.

[23]  E. González-López,et al.  Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease. , 2016, Journal of the American College of Cardiology.

[24]  W. Berger,et al.  Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis , 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[25]  Rachel Thompson,et al.  Limb-girdle muscular dystrophies — international collaborations for translational research , 2016, Nature Reviews Neurology.

[26]  R. D. de Boer,et al.  Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation , 2016, Histopathology.

[27]  J. Schwartzentruber,et al.  Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy , 2016, Human mutation.

[28]  Christine E. Seidman,et al.  A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice , 2016, Science.

[29]  D. Duan,et al.  Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy , 2016, Expert opinion on orphan drugs.

[30]  J. Seidman,et al.  Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. , 2016, The New England journal of medicine.

[31]  Jared Evans,et al.  Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy , 2015, Journal of the American Heart Association.

[32]  M. Link,et al.  Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Associat , 2015, Circulation.

[33]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[34]  S. Ommen,et al.  Genotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults. , 2015, Congenital heart disease.

[35]  R. Płoski,et al.  BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome , 2015, Journal of Muscle Research and Cell Motility.

[36]  P. Molina,et al.  Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units. , 2015, Revista espanola de cardiologia.

[37]  Esther Zorio,et al.  Patrón fenotípico de las miocardiopatías por mutaciones en el gen de la desmina. Estudio clínico y genético en dos unidades de cardiopatías familiares , 2015 .

[38]  J. Towbin,et al.  Left ventricular non-compaction cardiomyopathy , 2015, The Lancet.

[39]  M. Link,et al.  Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia , 2015, Circulation.

[40]  J. Carlin,et al.  Sudden death in childhood cardiomyopathy: results from a long-term national population-based study. , 2015, Journal of the American College of Cardiology.

[41]  B. Gersh,et al.  Genotype-Phenotype Correlations in Apical Variant Hypertrophic Cardiomyopathy. , 2015, Congenital heart disease.

[42]  R. Hauer,et al.  Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. , 2015, European heart journal.

[43]  Paola Giunti,et al.  Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data , 2015, The Lancet Neurology.

[44]  W. Fang,et al.  A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. , 2015, International journal of molecular medicine.

[45]  M. Taylor,et al.  Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation , 2015, Neuromuscular Disorders.

[46]  H. Katus,et al.  Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice , 2014, Nature Communications.

[47]  Lorenzo L. Pesce,et al.  Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy , 2014, Circulation. Cardiovascular genetics.

[48]  J. Deharo,et al.  Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. , 2014, Heart rhythm.

[49]  X. Puente,et al.  Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy , 2014, Nature Communications.

[50]  M. Hubank,et al.  Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy , 2014, Heart.

[51]  T. Edvardsen,et al.  Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members , 2014, European journal of heart failure.

[52]  J. Kalman,et al.  Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death , 2014, BMC Medical Genetics.

[53]  A. Anastasakis,et al.  2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). , 2014, European heart journal.

[54]  Karen S. Frese,et al.  Atlas of the clinical genetics of human dilated cardiomyopathy. , 2014, European heart journal.

[55]  R. Redon,et al.  HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. , 2014, Journal of the American College of Cardiology.

[56]  A. Palotie,et al.  Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy , 2014, Neurology.

[57]  B. Thilaganathan,et al.  Reversible De Novo Left Ventricular Trabeculations in Pregnant Women: Implications for the Diagnosis of Left Ventricular Noncompaction in Low-Risk Populations , 2014, Circulation.

[58]  N. Rajewsky,et al.  RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. , 2014, The Journal of clinical investigation.

[59]  Lei Zhou,et al.  NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans. , 2014, Cardiovascular research.

[60]  K. Thangaraj,et al.  RAF1 mutations in childhood-onset dilated cardiomyopathy , 2014, Nature Genetics.

[61]  R. Crystal,et al.  Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia , 2014, Nature Medicine.

[62]  J. Spudich,et al.  Hypertrophic and Dilated Cardiomyopathy: Four Decades of Basic Research on Muscle Lead to Potential Therapeutic Approaches to These Devastating Genetic Diseases , 2014, Biophysical journal.

[63]  S. Priori,et al.  Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype , 2014, Circulation.

[64]  M. LeWinter,et al.  Cardiac Titin and Heart Disease , 2014, Journal of cardiovascular pharmacology.

[65]  N. Hübner,et al.  Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. , 2014, Human molecular genetics.

[66]  Paul M. K. Gordon,et al.  Titin mutation in familial restrictive cardiomyopathy. , 2014, International journal of cardiology.

[67]  V. Fuster,et al.  The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation. , 2013, Journal of the American College of Cardiology.

[68]  C. Tracy,et al.  HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. , 2013, Heart rhythm.

[69]  J. Svendsen,et al.  The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death , 2013, Circulation. Cardiovascular genetics.

[70]  M. Ackerman,et al.  Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization. , 2013, Journal of the American College of Cardiology.

[71]  E. Schwarz,et al.  Left ventricular noncompaction cardiomyopathy: updated review , 2013, Therapeutic advances in cardiovascular disease.

[72]  F. Anselme,et al.  Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders. , 2013, Heart rhythm.

[73]  S. Russell,et al.  Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. , 2013, Journal of the American College of Cardiology.

[74]  S. Sharma,et al.  Increased left ventricular trabeculation in individuals with sickle cell anaemia: physiology or pathology? , 2013, International journal of cardiology.

[75]  D. Hedges,et al.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture , 2013, Nature Reviews Cardiology.

[76]  G. Musso,et al.  Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. , 2013, American journal of human genetics.

[77]  S. Luo,et al.  A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome , 2013, American journal of medical genetics. Part A.

[78]  P. Korkusuz,et al.  A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies , 2013, Journal of Medical Genetics.

[79]  Y. Pinto,et al.  Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. , 2013, European heart journal.

[80]  J. Towbin,et al.  Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians. , 2013, Journal of the American College of Cardiology.

[81]  P. Elliott,et al.  Sudden cardiac death in hypertrophic cardiomyopathy. , 2013, Circulation. Arrhythmia and electrophysiology.

[82]  V. Pascali,et al.  Genetics of arrhythmogenic right ventricular cardiomyopathy , 2013, Journal of Medical Genetics.

[83]  C. Gorbea,et al.  14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum. , 2013, Gene.

[84]  Matt Reed,et al.  Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? , 2013, Heart.

[85]  Mark A Hlatky,et al.  2012 ACCF/AHA/HRS focused update incorporated into the ACCF/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. , 2013, Circulation.

[86]  D. Corrado,et al.  Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. , 2013, European heart journal.

[87]  Carlos Torroja,et al.  Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy , 2013, Nature Medicine.

[88]  Euan A Ashley,et al.  Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. , 2013, Cell stem cell.

[89]  E. McNally,et al.  Genetic mutations and mechanisms in dilated cardiomyopathy. , 2013, The Journal of clinical investigation.

[90]  P. V. D. van der Starre,et al.  Late profound muscle weakness following heart transplantation due to danon disease , 2013, Muscle & nerve.

[91]  R. Hauer,et al.  Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy , 2012, European journal of heart failure.

[92]  Barry J Maron,et al.  Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. , 2012, Journal of the American College of Cardiology.

[93]  Eloisa Arbustini,et al.  Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. , 2012, Human molecular genetics.

[94]  P. Elliott,et al.  Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis , 2012, European heart journal.

[95]  R. Brugada,et al.  Sarcomeric gene mutations in sudden infant death syndrome (SIDS). , 2012, Forensic science international.

[96]  P. Hammond,et al.  Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy , 2012, Circulation. Cardiovascular genetics.

[97]  M. Ackerman,et al.  Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. , 2012, Current molecular medicine.

[98]  J. Towbin,et al.  Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. , 2012, Human molecular genetics.

[99]  M. Ashworth,et al.  Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. , 2012, European heart journal.

[100]  P. Ellinor,et al.  RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing , 2012, Nature Medicine.

[101]  B. Murray.  Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature , 2012, Journal of Genetic Counseling.

[102]  E R Behr,et al.  Inherited Cardiomyopathies , 2012, BMJ.

[103]  L. Mestroni,et al.  Truncations of titin causing dilated cardiomyopathy. , 2012, The New England journal of medicine.

[104]  A. Zwinderman,et al.  Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. , 2012, Journal of the American College of Cardiology.

[105]  P. Lambiase,et al.  Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study , 2012, European heart journal.

[106]  Barry J Maron,et al.  2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines , 2011, Circulation.

[107]  Barry J Maron,et al.  2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines , 2011, Circulation.

[108]  Asha A. Nair,et al.  Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy , 2011, Circulation. Cardiovascular genetics.

[109]  Y. Capetanaki,et al.  Desmin‐related myopathy , 2011, Clinical genetics.

[110]  A. Tajik,et al.  Isolated noncompaction of the left ventricular myocardium in adults: a systematic overview. , 2011, Journal of cardiac failure.

[111]  Brian R. Anderson,et al.  Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes , 2011, Circulation.

[112]  M. Ackerman,et al.  Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. , 2011, Journal of the American College of Cardiology.

[113]  R. Nussbaum,et al.  Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy , 2011, American journal of medical genetics. Part A.

[114]  F. Berger,et al.  Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype , 2011, Circulation. Cardiovascular genetics.

[115]  L. Jordaens,et al.  Indications and Outcome of Implantable Cardioverter‐Defibrillators for Primary and Secondary Prophylaxis in Patients with Noncompaction Cardiomyopathy , 2011, Journal of cardiovascular electrophysiology.

[116]  B. Marino,et al.  New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle , 2011, Clinical genetics.

[117]  H. Calkins,et al.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). , 2011, Heart rhythm.

[118]  P. Elliott,et al.  Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy: Impact of Genetics and Revised Task Force Criteria , 2011, Circulation.

[119]  L. Jordaens,et al.  Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study , 2011, Circulation.

[120]  R. Hauer,et al.  Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. , 2011, Journal of the American College of Cardiology.

[121]  I. Nonaka,et al.  TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy , 2011, Annals of neurology.

[122]  J. Caldwell,et al.  SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. , 2011, Journal of the American College of Cardiology.

[123]  L. Mestroni,et al.  Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry. , 2011, European heart journal.

[124]  J. Belmont,et al.  Left ventricular noncompaction in Sotos syndrome , 2011, American journal of medical genetics. Part A.

[125]  R. Hershberger,et al.  Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. , 2011, Journal of the American College of Cardiology.

[126]  Dan M Roden,et al.  A rare variant in MYH6 is associated with high risk of sick sinus syndrome , 2011, Nature Genetics.

[127]  M. Rieder,et al.  Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. , 2011, American journal of human genetics.

[128]  B. Neel,et al.  MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. , 2011, The Journal of clinical investigation.

[129]  B. Neel,et al.  Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. , 2011, The Journal of clinical investigation.

[130]  M. Furutani,et al.  Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. , 2011, Molecular genetics and metabolism.

[131]  Bernard Keavney,et al.  Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly , 2011, Circulation. Cardiovascular genetics.

[132]  E. Saarel,et al.  A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death. , 2011, Clinica chimica acta; international journal of clinical chemistry.

[133]  P. Korkusuz,et al.  Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. , 2010, American journal of human genetics.

[134]  M. Vorgerd,et al.  De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. , 2010, Human molecular genetics.

[135]  Shufeng Zhou,et al.  Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease , 2010, Genetica.

[136]  T. Ripoll Vera,et al.  The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. , 2010, International journal of cardiology.

[137]  R. Hui,et al.  Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. , 2010, American journal of human genetics.

[138]  J. Towbin,et al.  Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. , 2010, Journal of the American College of Cardiology.

[139]  A. Henning,et al.  Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy , 2010, Circulation.

[140]  A. Wilde,et al.  Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. , 2010, Heart rhythm.

[141]  V. Sheffield,et al.  Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase , 2010, European Journal of Human Genetics.

[142]  J. Deharo,et al.  Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. , 2010, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[143]  Sha Tang,et al.  Left ventricular noncompaction is associated with mutations in the mitochondrial genome. , 2010, Mitochondrion.

[144]  A. Marian,et al.  Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells , 2010, Current opinion in cardiology.

[145]  E. Aronica,et al.  PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. , 2010, The Journal of investigative dermatology.

[146]  H. Watkins,et al.  DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. , 2010, European heart journal.

[147]  Wojciech Zareba,et al.  Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria , 2010, European heart journal.

[148]  S. Scherer,et al.  Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. , 2010, Journal of the American College of Cardiology.

[149]  Birgit Funke,et al.  Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. , 2010, Journal of the American College of Cardiology.

[150]  A. Spuler,et al.  Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation , 2010, Annals of neurology.

[151]  I. Olivotto,et al.  Microvascular Dysfunction, Myocardial Ischemia, and Progression to Heart Failure in Patients with Hypertrophic Cardiomyopathy , 2009, Journal of cardiovascular translational research.

[152]  W. Rottbauer,et al.  Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy , 2009, Nature Medicine.

[153]  D. Waggoner,et al.  Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation , 2009, Circulation. Cardiovascular genetics.

[154]  S. Heath,et al.  Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. , 2009, American journal of human genetics.

[155]  L. Fauchier,et al.  Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. , 2009, European heart journal.

[156]  P. Pellikka,et al.  Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. , 2009, Journal of the American College of Cardiology.

[157]  J. Towbin,et al.  Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. , 2009, Journal of the American College of Cardiology.

[158]  J. Towbin,et al.  ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. , 2009, Journal of the American College of Cardiology.

[159]  J. Towbin,et al.  Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. , 2009, Cardiovascular research.

[160]  H. Katus,et al.  Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. , 2009, Cardiovascular research.

[161]  T. Ahluwalia,et al.  Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy , 2009, Molecular and Cellular Biochemistry.

[162]  D. Corrado,et al.  Arrhythmogenic right ventricular cardiomyopathy , 2009, The Lancet.

[163]  L. Mestroni,et al.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. , 2009, Journal of cardiac failure.

[164]  Dudley J Pennell,et al.  Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. , 2008, Journal of the American College of Cardiology.

[165]  F. Muntoni,et al.  Mutation in BAG3 causes severe dominant childhood muscular dystrophy , 2008, Annals of neurology.

[166]  Veniamin Y Sidorov,et al.  Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice. , 2008, The Journal of clinical investigation.

[167]  Peter Nürnberg,et al.  Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. , 2008, Human molecular genetics.

[168]  M. Silengo,et al.  R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. , 2008, European journal of medical genetics.

[169]  W. Haverkamp,et al.  A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. , 2008, Molecular genetics and metabolism.

[170]  Margaret L. Karst,et al.  Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology , 2008, Clinical genetics.

[171]  A. Marian,et al.  Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. , 2008, Cardiovascular research.

[172]  N. Dimkovic,et al.  Isolated ventricular noncompaction in patients with chronic renal failure. , 2008, Clinical nephrology.

[173]  F. Berger,et al.  Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction , 2008, Circulation.

[174]  Rachael,et al.  Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. , 2008, Mayo Clinic proceedings.

[175]  N. Sebire,et al.  Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes , 2008, Heart.

[176]  Sean Connors,et al.  Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. , 2008, American journal of human genetics.

[177]  J. Towbin,et al.  SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. , 2008, Molecular genetics and metabolism.

[178]  G. Chiesa,et al.  Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return , 2008, Human mutation.

[179]  M. Vikkula,et al.  Alpha-cardiac actin mutations produce atrial septal defects. , 2008, Human molecular genetics.

[180]  P. J. Griffiths,et al.  Dilated and Hypertrophic Cardiomyopathy Mutations in Troponin and &agr;-Tropomyosin Have Opposing Effects on the Calcium Affinity of Cardiac Thin Filaments , 2007, Circulation research.

[181]  J. Saffitz,et al.  A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. , 2007, American journal of human genetics.

[182]  J. Finsterer,et al.  Acquired noncompaction associated with myopathy. , 2007, International journal of cardiology.

[183]  Eloisa Arbustini,et al.  Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. , 2007, European heart journal.

[184]  L. Mestroni,et al.  Danon disease presenting with dilated cardiomyopathy and a complex phenotype , 2007, Journal of Human Genetics.

[185]  J. Arthur,et al.  Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. , 2007, Journal of molecular and cellular cardiology.

[186]  J. Finsterer,et al.  Extracardiac Medical and Neuromuscular Implications in Restrictive Cardiomyopathy , 2007, Clinical cardiology.

[187]  Michael J Ackerman,et al.  Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy , 2007, Nature Genetics.

[188]  Carlos A. Dumont,et al.  Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. , 2007, European heart journal.

[189]  N. Schork,et al.  Laminin-&agr;4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simultaneous Defects in Cardiomyocytes and Endothelial Cells , 2007 .

[190]  P. Elliott,et al.  Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. , 2007, Journal of the American College of Cardiology.

[191]  M. Vorgerd,et al.  Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. , 2007, Brain : a journal of neurology.

[192]  S. Ommen,et al.  Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. , 2007, Journal of molecular and cellular cardiology.

[193]  T. Arimura,et al.  Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. , 2007, Biochemical and biophysical research communications.

[194]  J. Towbin,et al.  Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy. , 2007, Molecular genetics and metabolism.

[195]  C. Angelini,et al.  MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy , 2007, Neuromuscular Disorders.

[196]  S. Shete,et al.  Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy , 2007, Circulation research.

[197]  J. Denecke,et al.  A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. , 2007, American journal of human genetics.

[198]  A. Terzic,et al.  KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation , 2007, Nature Clinical Practice Cardiovascular Medicine.

[199]  Michael J Ackerman,et al.  Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. , 2006, Biochemical and biophysical research communications.

[200]  Michael Litt,et al.  Mutations of presenilin genes in dilated cardiomyopathy and heart failure. , 2006, American journal of human genetics.

[201]  P. Syrris,et al.  Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. , 2006, American journal of human genetics.

[202]  E. Shoubridge,et al.  Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. , 2006, American journal of human genetics.

[203]  Susan C. Brown,et al.  Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy , 2006, Annals of neurology.

[204]  K. Campbell,et al.  Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness , 2006, Annals of neurology.

[205]  S. Colan,et al.  Incidence, causes, and outcomes of dilated cardiomyopathy in children. , 2006, JAMA.

[206]  R. Schwinger,et al.  Alterations of Tension-dependent ATP Utilization in a Transgenic Rat Model of Hypertrophic Cardiomyopathy* , 2006, Journal of Biological Chemistry.

[207]  L. Tavazzi,et al.  Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects , 2006, European journal of heart failure.

[208]  Vesa Virtanen,et al.  SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias , 2006, Journal of cardiovascular electrophysiology.

[209]  J. Crosson,et al.  Infantile Restrictive Cardiomyopathy Resulting From a Mutation in the Cardiac Troponin T Gene , 2006, Pediatrics.

[210]  B. Gersh,et al.  Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. , 2006, Molecular genetics and metabolism.

[211]  Barry J Maron,et al.  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 Interd , 2006, Circulation.

[212]  Hiroki Shibata,et al.  Alpha B-crystallin mutation in dilated cardiomyopathy. , 2006, Biochemical and biophysical research communications.

[213]  Michael J Ackerman,et al.  Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. , 2006, Mayo Clinic proceedings.

[214]  D. Häussinger,et al.  HFE mutations in idiopathic dilated cardiomyopathy. , 2006, Medizinische Klinik.

[215]  G. Danieli,et al.  Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy , 2006, Circulation.

[216]  W. Edwards,et al.  Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. , 2006, Molecular genetics and metabolism.

[217]  Christian C. Witt,et al.  Dimerization of the cardiac ankyrin protein CARP: Implications for MARP titin-based signaling , 2006, Journal of Muscle Research & Cell Motility.

[218]  G. Dorn,et al.  A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[219]  Y. Pinto,et al.  Primary prevention of sudden death in patients with lamin A/C gene mutations. , 2006, The New England journal of medicine.

[220]  L. Mestroni,et al.  Thymopoietin (lamina‐associated polypeptide 2) gene mutation associated with dilated cardiomyopathy , 2005, Human mutation.

[221]  T. Kubo,et al.  Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. , 2005, Journal of the American College of Cardiology.

[222]  Michael J Ackerman,et al.  Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. , 2005, Heart rhythm.

[223]  J. Seidman,et al.  Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling , 2005, Journal of Medical Genetics.

[224]  J. Towbin,et al.  Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children , 2005, Circulation.

[225]  Christine E Seidman,et al.  The genetic basis for cardiac remodeling. , 2005, Annual review of genomics and human genetics.

[226]  S. Day,et al.  Dystrophic heart failure blocked by membrane sealant poloxamer , 2005, Nature.

[227]  G. Guzman,et al.  The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice , 2005, Journal of Cell Science.

[228]  G. Danieli,et al.  Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. , 2005, European heart journal.

[229]  Hanns Lochmüller,et al.  A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. , 2005, American journal of human genetics.

[230]  Pamela R. Fain,et al.  α-Myosin Heavy Chain: A Sarcomeric Gene Associated With Dilated and Hypertrophic Phenotypes of Cardiomyopathy , 2005 .

[231]  G. Danieli,et al.  Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates. , 2005, Human pathology.

[232]  Thomas Sejersen,et al.  The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover , 2005, Science.

[233]  J. Saffitz.  Dependence of Electrical Coupling on Mechanical Coupling in Cardiac Myocytes: Insights Gained from Cardiomyopathies Caused by Defects in Cell‐Cell Connections , 2005, Annals of the New York Academy of Sciences.

[234]  M. Krasnianski,et al.  Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation , 2005, Neuromuscular Disorders.

[235]  N. Laing,et al.  A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles , 2005, Neurology.

[236]  M. Komajda,et al.  Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. , 2005, European heart journal.

[237]  Toshio Miyawaki,et al.  Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. , 2005, Molecular genetics and metabolism.

[238]  M. Antognozzi,et al.  Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells. , 2005, American journal of physiology. Heart and circulatory physiology.

[239]  Arnold Munnich,et al.  Mutation in myosin heavy chain 6 causes atrial septal defect , 2005, Nature Genetics.

[240]  Andrew G Engel,et al.  Mutations in ZASP define a novel form of muscular dystrophy in humans , 2005, Annals of neurology.

[241]  G. Danieli,et al.  Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. , 2005, Cardiovascular research.

[242]  Masahiko Hoshijima,et al.  Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[243]  H. Watkins,et al.  Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[244]  A. Tajik,et al.  Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[245]  Walter Birchmeier,et al.  Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy , 2004, Nature Genetics.

[246]  D. Tester,et al.  Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. , 2004, Mayo Clinic proceedings.

[247]  U. Aebi,et al.  The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation? , 2004, Journal of structural biology.

[248]  L. Mestroni,et al.  SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia , 2004, Circulation.

[249]  M. Komajda,et al.  Calcified mediastinal haematoma: a rare case of cardiac constriction , 2004, Heart.

[250]  N. Protonotarios,et al.  Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. , 2004, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[251]  L. Monserrat,et al.  Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. , 2004, The American journal of cardiology.

[252]  H. Hennies,et al.  Novel Gene Locus for Autosomal Dominant Left Ventricular Noncompaction Maps to Chromosome 11p15 , 2004, Circulation.

[253]  V. Ruppert,et al.  Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome. , 2004, Biochemical and biophysical research communications.

[254]  G. Thiene,et al.  Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). , 2004, Heart rhythm.

[255]  F. Muntoni,et al.  Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome , 2004, Journal of Medical Genetics.

[256]  Qiang Zhou,et al.  A Cypher/ZASP Mutation Associated with Dilated Cardiomyopathy Alters the Binding Affinity to Protein Kinase C* , 2004, Journal of Biological Chemistry.

[257]  D. Fatkin,et al.  Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. , 2004, The Journal of clinical investigation.

[258]  E. Goldmuntz,et al.  NKX2.5 mutations in patients with congenital heart disease. , 2004, Journal of the American College of Cardiology.

[259]  A. Tolun,et al.  Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2–p21.32 , 2004, Neuromuscular Disorders.

[260]  J. Mogensen,et al.  Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy , 2004, The Lancet.

[261]  G. Valle,et al.  Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. , 2003, Journal of the American College of Cardiology.

[262]  E. Goldmuntz,et al.  NKX2.5mutations in patients with congenital heart disease , 2003 .

[263]  A. George,et al.  Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). , 2003, The Journal of clinical investigation.

[264]  R. Schwartz,et al.  Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. , 2003, Molecular genetics and metabolism.

[265]  Ferhaan Ahmad,et al.  Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy , 2003, Circulation.

[266]  A. Blamire,et al.  Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. , 2003, Journal of the American College of Cardiology.

[267]  R. Matsuoka,et al.  Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. , 2003, Biochemical and biophysical research communications.

[268]  Ulrike Mende,et al.  Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban , 2003, Science.

[269]  Lucas J Herfst,et al.  Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System , 2003, Circulation research.

[270]  E. Holme,et al.  Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. , 2003, European heart journal.

[271]  P. Elliott,et al.  Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. , 2003, The Journal of clinical investigation.

[272]  Masahiko Hoshijima,et al.  The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy , 2002, Cell.

[273]  R. Hershberger,et al.  A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. , 2002, American heart journal.

[274]  G. Danieli,et al.  Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. , 2002, American journal of human genetics.

[275]  C. Gille,et al.  Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. , 2002, Biochemical and biophysical research communications.

[276]  J. Finsterer,et al.  Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. , 2002, The American journal of cardiology.

[277]  Leena Peltonen,et al.  Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. , 2002, American journal of human genetics.

[278]  M. Digilio,et al.  Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. , 2002, American journal of human genetics.

[279]  Bruce D Gelb,et al.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. , 2002, American journal of human genetics.

[280]  Takeharu Hayashi,et al.  Titin mutations as the molecular basis for dilated cardiomyopathy. , 2002, Biochemical and biophysical research communications.

[281]  J. Seidman,et al.  Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly , 2002, Circulation.

[282]  M. Keating,et al.  Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy , 2002, Circulation.

[283]  Hiroshi Sato,et al.  Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: Amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[284]  John Atherton,et al.  Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy , 2002, Nature Genetics.

[285]  J. Towbin,et al.  The failing heart , 2002, Nature.

[286]  F. Takahashi‐Yanaga,et al.  Ca2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[287]  P. Kaufmann,et al.  Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy , 2001, Heart.

[288]  Michael A. Patton,et al.  Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome , 2001, Nature Genetics.

[289]  H. Wen,et al.  The Overall Pattern of Cardiac Contraction Depends on a Spatial Gradient of Myosin Regulatory Light Chain Phosphorylation , 2001, Cell.

[290]  M. Quiñones,et al.  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 , 2001, Circulation.

[291]  L. Fananapazir,et al.  Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. , 2001, The New England journal of medicine.

[292]  H. Watkins,et al.  Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. , 2001, Human molecular genetics.

[293]  S. Bione,et al.  A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy , 2001, Neuromuscular Disorders.

[294]  S. Solomon,et al.  Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. , 2001, The New England journal of medicine.

[295]  F. Whitby,et al.  Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. , 2001, Journal of molecular and cellular cardiology.

[296]  J. Towbin,et al.  Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome , 2001, Circulation.

[297]  M. Davies,et al.  Hypercontractile Properties of Cardiac Muscle Fibers in a Knock-in Mouse Model of Cardiac Myosin-binding Protein-C* , 2001, The Journal of Biological Chemistry.

[298]  D. Stephan,et al.  Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). , 2001, Human molecular genetics.

[299]  S. Priori,et al.  Mutations in the Cardiac Ryanodine Receptor Gene (hRyR2) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia , 2001, Circulation.

[300]  M. Kamisago.  Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy , 2000 .

[301]  D. Kelsell,et al.  Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. , 2000, Human molecular genetics.

[302]  A. Matsumori,et al.  Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy , 2000, Human Genetics.

[303]  E. Olson,et al.  Decoding calcium signals involved in cardiac growth and function , 2000, Nature Medicine.

[304]  J. Towbin,et al.  Mutations in the Human δ-Sarcoglycan Gene in Familial and Sporadic Dilated Cardiomyopathy, a Disease of the Cytoskeleton and Sarcolemma , 2000 .

[305]  S. Dimauro,et al.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) , 2000, Nature.

[306]  A. Crosby,et al.  Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) , 2000, The Lancet.

[307]  F. Baas,et al.  Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). , 2000, Human molecular genetics.

[308]  T. Negri,et al.  Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations , 2000, Journal of medical genetics.

[309]  G. Valle,et al.  Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin , 2000, Nature Genetics.

[310]  J. Seidman,et al.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.

[311]  I. V. Van Gelder,et al.  Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. , 1999, Cardiovascular research.

[312]  A. Wilde,et al.  Cardiac conduction defects associate with mutations in SCN5A , 1999, Nature Genetics.

[313]  C. Moncman,et al.  Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains. , 1999, Cell motility and the cytoskeleton.

[314]  H. Torgersen,et al.  Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome , 1999 .

[315]  M Hiroe,et al.  Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. , 1999, Biochemical and biophysical research communications.

[316]  P. Burch,et al.  Desmin mutation responsible for idiopathic dilated cardiomyopathy. , 1999, Circulation.

[317]  A. Børglum,et al.  α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy , 1999 .

[318]  F. Muntoni,et al.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.

[319]  H. Watkins,et al.  Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[320]  E. Arbustini,et al.  Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. , 1998, The American journal of pathology.

[321]  M. Prevost,et al.  A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy , 1998, Nature Genetics.

[322]  J. Nagle,et al.  Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.

[323]  J. Seidman,et al.  Congenital heart disease caused by mutations in the transcription factor NKX2-5. , 1998, Science.

[324]  W. Mckenna,et al.  Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. , 1998, Circulation.

[325]  S. Thibodeau,et al.  Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. , 1998, Science.

[326]  J. Seidman,et al.  Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. , 1998, The Journal of clinical investigation.

[327]  G. Breithardt,et al.  Genetic basis and molecular mechanism for idiopathic ventricular fibrillation , 1998, Nature.

[328]  L. Peltonen,et al.  Assignment of the tibial muscular dystrophy locus to chromosome 2q31. , 1998, American journal of human genetics.

[329]  M. Matzuk,et al.  Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12 , 1998, Nature.

[330]  B. Maron,et al.  A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. , 1998, Circulation research.

[331]  J. Carey,et al.  Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. , 1997, American journal of medical genetics.

[332]  A. Angelini,et al.  Morphologic spectrum of primary restrictive cardiomyopathy. , 1997, The American journal of cardiology.

[333]  E. Haan,et al.  The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. , 1997, American journal of human genetics.

[334]  M. Matsuzaki,et al.  Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy , 1997, Nature Genetics.

[335]  M. Passos-Bueno,et al.  Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene , 1996, Nature Genetics.

[336]  M. C. Ellis,et al.  A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis , 1996, Nature Genetics.

[337]  F O Mueller,et al.  Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. , 1996, JAMA.

[338]  I. Rayment,et al.  Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle , 1996, Nature Genetics.

[339]  E. Maestrini,et al.  A novel X-linked gene, G4.5. is responsible for Barth syndrome , 1996, Nature Genetics.

[340]  B Maisch,et al.  Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.

[341]  J. Seidman,et al.  Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy , 1995, Nature Genetics.

[342]  J. Beckmann,et al.  β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 , 1995, Nature Genetics.

[343]  A. Munnich,et al.  Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. , 1995, Journal of medical genetics.

[344]  J. Seidman,et al.  Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. , 1995, The New England journal of medicine.

[345]  Arthur J Moss,et al.  SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome , 1995, Cell.

[346]  E. Maestrini,et al.  Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy , 1994, Nature Genetics.

[347]  L. Benson,et al.  Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. , 1994, American journal of human genetics.

[348]  Christine E. Seidman,et al.  α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere , 1994, Cell.

[349]  F. Muntoni,et al.  Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. , 1993, The New England journal of medicine.

[350]  J. Towbin,et al.  X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus , 1993, Circulation.

[351]  Y. Fukuhara,et al.  Hypertrophic cardiomyopathy in late‐onset variant of Fabry disease with high residual activity of α‐galactosidase A , 1991, Clinical genetics.

[352]  J. Seidman,et al.  A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation , 1990, Cell.

[353]  S. Solomon,et al.  A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. , 1990, American journal of human genetics.

[354]  J. Perloff,et al.  Isolated noncompaction of left ventricular myocardium. A study of eight cases. , 1990, Circulation.

[355]  W. Stevenson,et al.  Diverse mechanisms of unexpected cardiac arrest in advanced heart failure. , 1989, Circulation.

[356]  L. Melton,et al.  Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. , 1989, Circulation.

[357]  J. Wrana,et al.  Independent regulation of collagenase, 72-kDa progelatinase, and metalloendoproteinase inhibitor expression in human fibroblasts by transforming growth factor-beta. , 1989, The Journal of biological chemistry.

[358]  M. Farrall,et al.  Mapping of mutation causing Friedreich's ataxia to human chromosome 9 , 1988, Nature.

[359]  B. McManus,et al.  Idiopathic dilated cardiomyopathy: analysis of 152 necropsy patients. , 1987, The American journal of cardiology.

[360]  J. Towbin,et al.  X-linked dilated cardiomyopathy. , 1987, The New England journal of medicine.

[361]  W. Roberts,et al.  Intramural ("small vessel") coronary artery disease in hypertrophic cardiomyopathy. , 1986, Journal of the American College of Cardiology.

[362]  J. Berden,et al.  An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes , 1983, Journal of the Neurological Sciences.

[363]  S. Dimauro,et al.  Lysosomal glycogen storage disease with normal acid maltase , 1981, Neurology.

[364]  W. Roberts,et al.  Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. , 1980, The American journal of medicine.

[365]  G. Clarke,et al.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. , 1979, Journal of medical genetics.

[366]  B. Migeon,et al.  Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease , 1970, Science.

[367]  V. McKusick,et al.  Cardiac Aspects of Friedreich's Ataxia , 1962, Circulation.

[368]  B. Suys,et al.  Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. , 2018, European journal of medical genetics.

[369]  M. Gertz,et al.  Restrictive Cardiomyopathy , 2017 .

[370]  R. Płoski,et al.  Lamin A/C mutations in dilated cardiomyopathy. , 2014, Cardiology journal.

[371]  J. Towbin.  90 – Ventricular Tachycardia in Noncompaction Cardiomyopathy , 2014 .

[372]  M. Koenig,et al.  Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. , 2013, Texas Heart Institute journal.

[373]  F. Baas,et al.  Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. , 2013, Brain : a journal of neurology.

[374]  B. Maron,et al.  Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. , 2012, Heart rhythm.

[375]  H. Watkins,et al.  Inherited cardiomyopathies. , 2011, The New England journal of medicine.

[376]  Link,et al.  Genetic basis of hypertrophic cardiomyopathy , 2010 .

[377]  M. Komajda,et al.  Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. , 2008, Cardiovascular research.

[378]  P. Harper,et al.  Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences , 2004, Human Genetics.

[379]  H. Crijns,et al.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? , 2004, Journal of Molecular Medicine.

[380]  S. Rosenheck,et al.  Arrhythmogenic Right Ventricular Dysplasia A Recessive Mutation in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia, Skin Disorder, and Woolly Hair , 2003 .

[381]  T. Bienvenu,et al.  Mutation and Polymorphism Report , 1998 .

[382]  H. Katus,et al.  Frequency and phenotypes of familial dilated cardiomyopathy. , 1998, Journal of the American College of Cardiology.

[383]  W. Mckenna,et al.  Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. , 1998, Journal of the American College of Cardiology.

[384]  M. Ritter,et al.  Isolated noncompaction of the myocardium in adults. , 1997, Mayo Clinic proceedings.

[385]  V. Moiseev,et al.  Restrictive cardiomyopathy. , 1997, The New England journal of medicine.