Elizabeth M. Mcnally
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Elizabeth M. Mcnally's Degrees
- Doctorate Medicine University of Chicago
- PhD Biochemistry University of Chicago
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(Suggest an Edit or Addition)Elizabeth M. Mcnally's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses (2004) (1132)
- Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy (1995) (489)
- The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. (2004) (482)
- Myosin subfragment-1 is sufficient to move actin filaments in vitro (1987) (459)
- β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (1995) (454)
- Dilated Cardiomyopathy: Genetic Determinants and Mechanisms (2017) (402)
- Genetic mutations and mechanisms in dilated cardiomyopathy. (2013) (372)
- γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin (1998) (306)
- Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein (2000) (306)
- Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. (2009) (304)
- The genetics of dilated cardiomyopathy (2010) (261)
- The Dystrophin Complex: Structure, Function, and Implications for Therapy. (2015) (242)
- Dominant negative myostatin produces hypertrophy without hyperplasia in muscle (2000) (239)
- Nesprin‐1α self‐associates and binds directly to emerin and lamin A in vitro (2002) (233)
- Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K(ATP) channels. (2002) (231)
- Caveolin-3 in muscular dystrophy. (1998) (222)
- Contemporary Cardiac Issues in Duchenne Muscular Dystrophy (2015) (217)
- Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. (2000) (199)
- Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (2008) (198)
- Normal myoblast fusion requires myoferlin (2005) (195)
- LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy (2013) (188)
- Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. (2003) (187)
- Bacillus anthracis edema toxin causes extensive tissue lesions and rapid lethality in mice. (2005) (182)
- The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. (1996) (182)
- Hormonal modulation of a gene injected into rat heart in vivo. (1991) (180)
- Calcium-sensitive Phospholipid Binding Properties of Normal and Mutant Ferlin C2 Domains* (2002) (177)
- Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. (1997) (172)
- Full-length rat alpha and beta cardiac myosin heavy chain sequences. Comparisons suggest a molecular basis for functional differences. (1989) (171)
- Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. (1996) (170)
- Myoferlin, a candidate gene and potential modifier of muscular dystrophy. (2000) (168)
- Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. (2002) (168)
- Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. (2002) (162)
- Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. (2009) (162)
- Human cardiac myosin heavy chain genes and their linkage in the genome (1987) (155)
- Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. (1995) (155)
- Sarcoglycans in muscular dystrophy (2000) (153)
- Muscle diseases: the muscular dystrophies. (2007) (148)
- Nesprin-1 mutations in human and murine cardiomyopathy. (2010) (144)
- Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. (2009) (143)
- Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. (1997) (140)
- Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies. (2001) (139)
- Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy (1996) (137)
- TBX5 drives Scn5a expression to regulate cardiac conduction system function. (2012) (135)
- Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy (2020) (134)
- Population-Based Variation in Cardiomyopathy Genes (2012) (133)
- Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene 1 (1998) (133)
- Muscle degeneration without mechanical injury in sarcoglycan deficiency. (1999) (128)
- Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (1996) (124)
- An actin-dependent annexin complex mediates plasma membrane repair in muscle (2016) (123)
- Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm (2016) (122)
- Deletion of periostin reduces muscular dystrophy and fibrosis in mice by modulating the transforming growth factor-β pathway (2012) (115)
- Altered Chromosomal Positioning, Compaction, and Gene Expression with a Lamin A/C Gene Mutation (2010) (113)
- Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. (2010) (113)
- New approaches in the therapy of cardiomyopathy in muscular dystrophy. (2007) (112)
- Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle. (2004) (110)
- Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair (2014) (110)
- Nesprin-1alpha contributes to the targeting of mAKAP to the cardiac myocyte nuclear envelope. (2005) (108)
- The Endocytic Recycling Protein EHD2 Interacts with Myoferlin to Regulate Myoblast Fusion* (2008) (106)
- A promoter interaction map for cardiovascular disease genetics (2018) (105)
- S100A12 in Vascular Smooth Muscle Accelerates Vascular Calcification in Apolipoprotein E–Null Mice by Activating an Osteogenic Gene Regulatory Program (2011) (105)
- Myoferlin Regulates Vascular Endothelial Growth Factor Receptor-2 Stability and Function* (2007) (104)
- Age-dependent effect of myostatin blockade on disease severity in a murine model of limb-girdle muscular dystrophy. (2006) (101)
- Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer. (2000) (98)
- Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation (2009) (97)
- The genetic landscape of cardiomyopathy and its role in heart failure. (2015) (96)
- Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. (2002) (96)
- Skeletal Muscle Structure and Function (2006) (94)
- Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (2000) (91)
- Cardiac Assessment in Duchenne and Becker Muscular Dystrophies (2010) (91)
- S100A12 Mediates Aortic Wall Remodeling and Aortic Aneurysm (2010) (89)
- Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy (2017) (89)
- Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development (2010) (89)
- Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. (1994) (88)
- Spontaneous Coronary Vasospasm in KATP Mutant Mice Arises From a Smooth Muscle–Extrinsic Process (2005) (88)
- Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. (2006) (87)
- Beyond dystrophin: current progress in the muscular dystrophies. (1996) (85)
- Processing and Assembly of the Dystrophin Glycoprotein Complex (2007) (85)
- Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy. (2007) (85)
- Genetic pathways of vascular calcification. (2012) (84)
- Isolation and characterization of human myosin heavy chain genes. (1983) (79)
- Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis (2017) (78)
- Genetic background influences muscular dystrophy (2005) (78)
- Myostatin blockade improves function but not histopathology in a murine model of limb‐girdle muscular dystrophy 2C (2008) (78)
- Repairing the tears: dysferlin in muscle membrane repair. (2003) (76)
- Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. (2011) (71)
- Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. (2004) (70)
- Mechanisms of muscle weakness in muscular dystrophy (2010) (69)
- Hydrogen sulfide dilates cerebral arterioles by activating smooth muscle cell plasma membrane KATP channels (2011) (69)
- Powerful genes--myostatin regulation of human muscle mass. (2004) (68)
- Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. (1996) (68)
- Myoferlin is required for insulin‐like growth factor response and muscle growth (2010) (66)
- Genetic compensation for sarcoglycan loss by integrin α7β1 in muscle (2004) (66)
- Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants. (2007) (65)
- Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly. (2001) (62)
- Molecular Identification and Functional Characterization of a Mitochondrial Sulfonylurea Receptor 2 Splice Variant Generated by Intraexonic Splicing (2009) (61)
- Gene expression, chromosome position and lamin A/C mutations (2011) (61)
- Mechanisms and management of the heart in myotonic dystrophy (2011) (60)
- Complete nucleotide sequence of full length cDNA for rat α cardiac myosin hea chain (1989) (59)
- Lamin A/C truncation in dilated cardiomyopathy with conduction disease (2003) (58)
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
- Endocytic Recycling Proteins EHD1 and EHD2 Interact with Fer-1-like-5 (Fer1L5) and Mediate Myoblast Fusion* (2010) (58)
- Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. (2009) (58)
- Modifying muscular dystrophy through transforming growth factor‐β (2013) (58)
- Dysferlin protein analysis in limb-girdle muscular dystrophies (2007) (57)
- Supercomputing for the parallelization of whole genome analysis (2014) (54)
- Ferlin proteins in myoblast fusion and muscle growth. (2011) (54)
- Plasma Membrane Repair in Health and Disease. (2016) (54)
- Cardiac Management of the Patient With Duchenne Muscular Dystrophy (2018) (54)
- Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy (2014) (53)
- S100A12 expression in thoracic aortic aneurysm is associated with increased risk of dissection and perioperative complications. (2012) (50)
- Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. (2014) (50)
- Modifier genes and their effect on Duchenne muscular dystrophy. (2015) (48)
- Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. (2019) (46)
- Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex (2011) (45)
- Myofiber-specific inhibition of TGFβ signaling protects skeletal muscle from injury and dystrophic disease in mice. (2014) (45)
- Myoferlin regulation by NFAT in muscle injury, regeneration and repair (2010) (45)
- Mice lacking sulfonylurea receptor 2 (SUR2) ATP-sensitive potassium channels are resistant to acute cardiovascular stress. (2007) (45)
- Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure (1995) (45)
- P38α MAPK underlies muscular dystrophy and myofiber death through a Bax-dependent mechanism. (2014) (45)
- EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development. (2014) (45)
- Sarcoglycans in vascular smooth and striated muscle. (2003) (44)
- NO more muscle fatigue. (2009) (44)
- Mutations in the caveolin-3 gene: When are they pathogenic? (2001) (43)
- Sulfonylurea Receptor-Dependent and -Independent Pathways Mediate Vasodilation Induced by ATP-Sensitive K+ Channel Openers (2008) (41)
- Cardiac sulfonylurea receptor short form-based channels confer a glibenclamide-insensitive KATP activity. (2008) (40)
- Membrane fusion in muscle development and repair. (2015) (40)
- Genetic Disruption of Calcineurin Improves Skeletal Muscle Pathology and Cardiac Disease in a Mouse Model of Limb-Girdle Muscular Dystrophy* (2007) (39)
- Muscle cell communication in development and repair (2017) (39)
- Functional nitric oxide synthase mislocalization in cardiomyopathy. (2004) (38)
- Sarcomere mutations in cardiogenesis and ventricular noncompaction. (2009) (38)
- SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy. (2011) (37)
- Secondary coronary artery vasospasm promotes cardiomyopathy progression. (2004) (36)
- Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy (2015) (36)
- Thrombospondin expression in myofibers stabilizes muscle membranes (2016) (35)
- Targeting latent TGFβ release in muscular dystrophy (2014) (35)
- A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13. (1986) (34)
- Recombinant annexin A6 promotes membrane repair and protects against muscle injury. (2019) (34)
- Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in γ- or δ-sarcoglycan-deficient mice (2001) (34)
- Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ (2016) (34)
- Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases. (2019) (34)
- Exon-Skipping Therapy: A Roadblock, Detour, or Bump in the Road? (2014) (33)
- Coexpression and assembly of myosin heavy chain and myosin light chain in Escherichia coli. (1988) (32)
- Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle. (2004) (32)
- Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy. (2017) (31)
- Expression of myosin and actin in Escherichia coli. (1991) (31)
- Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy. (2014) (31)
- Duchenne muscular dystrophy: how bad is the heart? (2008) (31)
- Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations. (2015) (31)
- Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy (2017) (31)
- Cytoskeletal defects in cardiomyopathy. (2003) (30)
- Emery-Dreifuss muscular dystrophy. (2011) (30)
- Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping. (2015) (30)
- Therapy Insight: cardiovascular complications associated with muscular dystrophies (2005) (29)
- Distinct genetic regions modify specific muscle groups in muscular dystrophy. (2011) (29)
- Setting the pace: Tbx3 and Tbx18 in cardiac conduction system development. (2009) (28)
- The superhealing MRL background improves muscular dystrophy (2012) (28)
- Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice. (2001) (27)
- Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics. (2018) (26)
- 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands (2015) (25)
- Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy (2002) (25)
- Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure. (2016) (25)
- Genetic Variation in Cardiomyopathy and Cardiovascular Disorders. (2015) (25)
- GRAF1 promotes ferlin-dependent myoblast fusion. (2014) (25)
- Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy (2020) (25)
- Genetic modifiers of muscular dystrophy: implications for therapy. (2007) (25)
- A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex (2007) (24)
- Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3&Dgr;25bp Intronic Deletion in South Asian Descendants (2018) (24)
- Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders (2020) (24)
- Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury (2017) (23)
- Cardiomyopathy in animal models of muscular dystrophy (2001) (23)
- Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption. (2016) (22)
- Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes. (2019) (22)
- Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy (2019) (22)
- Genetic Modifiers for Neuromuscular Diseases. (2014) (21)
- Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation. (2010) (21)
- The sarcoglycan complex in striated and vascular smooth muscle. (2002) (21)
- Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. (2007) (21)
- Modifiers of heart and muscle function: where genetics meets physiology (2014) (20)
- DNA Electroporation, Isolation and Imaging of Myofibers. (2015) (20)
- Sarcomere Mutations in Cardiomyopathy, Noncompaction, and the Developing Heart (2008) (20)
- Outside in: The matrix as a modifier of muscular dystrophy. (2017) (20)
- MicroRNAs promote skeletal muscle differentiation of mesodermal iPSC-derived progenitors (2017) (20)
- Complete nucleotide sequence of full length cDNA for rat alpha cardiac myosin heavy chain. (1989) (20)
- Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming. (2019) (19)
- Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants (2019) (19)
- Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease (2016) (19)
- Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy (2020) (19)
- Genetics: Broken giant linked to heart failure (2012) (19)
- Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 KATP channels. Commentary (2002) (19)
- Questions and Answers About Myostatin, GDF11, and the Aging Heart. (2016) (18)
- Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. (2021) (18)
- Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness (2018) (18)
- Identification of sequences necessary for the association of cardiac myosin subunits (1991) (17)
- The emerging genetic landscape underlying cardiac conduction system function. (2011) (17)
- Abcc9 is required for the transition to oxidative metabolism in the newborn heart (2014) (17)
- Ventricular myosin light chain 1 is developmentally regulated and does not change in hypertension. (1989) (17)
- A role for alternative splicing in circadian control of exocytosis and glucose homeostasis (2020) (16)
- Cardiomyopathy in neuromuscular disorders (2007) (16)
- Genetic deletion of NOS3 increases lethal cardiac dysfunction following mouse cardiac arrest. (2011) (16)
- Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion (2000) (15)
- GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice (2015) (15)
- Dynamin 2 the rescue for centronuclear myopathy. (2014) (15)
- Genotype-Specific Interaction of Latent TGFβ Binding Protein 4 with TGFβ (2016) (15)
- A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping (2019) (14)
- Complete cDNA sequence of rat atrial myosin light chain 1: patterns of expression during development and with hypertension. (1990) (14)
- Genetic Profiling for Risk Reduction in Human Cardiovascular Disease (2014) (14)
- Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy. (2008) (14)
- Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. (1996) (14)
- Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease (2016) (14)
- Standard Operating Procedures (SOPs) for Evaluating the Heart in Preclinical Studies of Duchenne Muscular Dystrophy (2016) (13)
- The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice. (2010) (13)
- Vasodilation induced by oxygen/glucose deprivation is attenuated in cerebral arteries of SUR2 null mice. (2011) (13)
- The CO-Regulation Database (CORD): A Tool to Identify Coordinately Expressed Genes (2014) (13)
- Latent TGF-β-binding protein 4 modifies muscular dystrophy in mice (The Journal of Clinical Investigation (2010) 120, 2, (645) DOI: 10.1172/JCI39845) (2010) (12)
- Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic. (2017) (12)
- A Pilot Study of a Family History Risk Assessment Tool for Cardiovascular Disease (2008) (12)
- New approaches to establish genetic causality. (2015) (12)
- 226th ENMC International Workshop: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands (2018) (11)
- Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial Lecture. (2012) (11)
- Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy. (2010) (11)
- Bacterial expression of eukaryotic contractile proteins. (1989) (11)
- Impaired exercise tolerance and skeletal muscle myopathy in sulfonylurea receptor-2 mutant mice. (2009) (11)
- Risk-Based Approach for the Prediction and Prevention of Heart Failure. (2021) (11)
- Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids (2018) (10)
- Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle (2015) (10)
- Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers. (2018) (10)
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (2014) (10)
- Cardiomyopathy in Muscular Dystrophy: When to Treat? (2017) (9)
- Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart (2020) (9)
- The interaction of coronary tone and cardiac fibrosis (2005) (9)
- Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death (2018) (8)
- Conference report on contractures in musculoskeletal and neurological conditions (2020) (8)
- Genetics of vascular calcification. (2011) (8)
- Two strikes and you're out: gene-gene mutation interactions in HCM. (2014) (8)
- Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM (2009) (8)
- Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect? (2002) (7)
- Gene Editing and Gene-Based Therapeutics for Cardiomyopathies. (2018) (7)
- Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study (2021) (7)
- Latent TGF-β-binding protein 4 modifies muscular dystrophy in mice (The Journal of Clinical Investigation (2010) 120, 2, (645) DOI (2010) (7)
- Anti-latent TGFβ binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy (2021) (7)
- A decade of optimizing drug development for rare neuromuscular disorders through TACT (2019) (7)
- A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy (2020) (7)
- Dusp6 is a genetic modifier of growth through enhanced ERK activity (2018) (7)
- Regenerating more than muscle in muscular dystrophy. (2004) (7)
- Association of the V122I Transthyretin Amyloidosis Genetic Variant With Cardiac Structure and Function in Middle-aged Black Adults: Coronary Artery Risk Development in Young Adults (CARDIA) Study. (2020) (7)
- Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. (2000) (7)
- Cardiac function in muscular dystrophy associates with abdominal muscle pathology. (2015) (6)
- Intermittent glucocorticoid treatment enhances skeletal muscle performance through sexually dimorphic mechanisms (2022) (6)
- Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy (2021) (6)
- Welcome to the splice age: antisense oligonucleotide-mediated exon skipping gains wider applicability. (2016) (6)
- 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. (2022) (6)
- South Asian-Specific MYBPC3Δ25bp Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure. (2020) (6)
- Genetic Spectrum of Arrhythmogenic Cardiomyopathy. (2019) (6)
- Reproductive Aging and Cardiovascular Disease Risk. (2016) (5)
- Cardiac magnetic resonance of left ventricular trabeculation: the new normal. (2011) (5)
- Muscle mitochondrial remodeling by intermittent glucocorticoid drugs requires an intact circadian clock and muscle PGC1α (2022) (5)
- Risk Prediction Model in Children With Hypertrophic Cardiomyopathy: A Work in Progress. (2019) (5)
- Reporting Genetic Markers and the Social Determinants of Health in Clinical Cardiovascular Research-It Is Time to Recalibrate the Use of Race. (2020) (5)
- Cardiac Macrophages - Keeping the Engine Running Clean. (2020) (4)
- A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward). (2012) (4)
- New Directions in Biology and Disease of Skeletal Muscle, Meeting Report, 5–8 May 2010, Ottawa, Canada (2011) (4)
- Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle (2021) (4)
- Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective (2019) (4)
- Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing. (2018) (4)
- Novel Targets and Approaches to Treating Skeletal Muscle Disease (2012) (4)
- Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel (2021) (4)
- Abnormal Muscle Pathology and Physiology (2017) (3)
- Overexpression of γ-Sarcoglycan Induces Severe Muscular Dystrophy (2001) (3)
- P 38 a MAPK underlies muscular dystrophy and myofiberdeaththroughaBax-dependentmechanism (2014) (3)
- Pediatric Hypertrophy Cardiomyopathy-Another Case Where Children Are Not Small Adults. (2018) (3)
- Advocacy: yes we can. (2012) (3)
- An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy (2022) (3)
- Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status. (2019) (3)
- Intermittent prednisone treatment in mice promotes exercise tolerance in obesity through adiponectin (2022) (3)
- Transgenic overexpression of the SUR2A-55 splice variant in mouse heart reduces infract size and promotes protective mitochondrial function (2018) (3)
- Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy (2021) (3)
- Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age (2020) (3)
- Corrigendum: The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses (2005) (2)
- Modeling Human Dilated Cardiomyopathy Using Humans∗ (2018) (2)
- Hypertrophic Cardiomyopathy Gene Testing: Go Big? (2017) (2)
- Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP (2021) (2)
- Cardiovascular Genetics: Paying Individual Dividends (2014) (2)
- Cardiomyopathy in Muscular Dystrophy Workshop 28–30 September 2003, Tucson, Arizona (2004) (2)
- Integrating clinical genetics in cardiology: Current practices and recommendations for education (2022) (2)
- Adhalin, the 50 kD dystrophin associated protein, is not the locus for severe childhood autosomal recessive dystrophy (SCARMD) (1994) (2)
- Can We Do Better Than Dobutamine? (2013) (2)
- Human adhalin is alternatively spliced and the gene is located on chromosome 17 q 21 ( musular dystrophy / dystrophin / dystrophn-ated protein ) (2)
- hyperplasia: a meta-analysis Mechanical overload and skeletal muscle fiber (2015) (2)
- Enhancer and promoter usage in the normal and failed human heart (2020) (2)
- Hypertrophic cardiomyopathy: exercise and eat right. (2006) (2)
- Opposing effects of genetic variation in MTCH2 for obesity versus heart failure. (2022) (1)
- Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop. (2021) (1)
- Genetic Testing Outcomes in Pediatric Dilated Cardiomyopathy (2019) (1)
- Meeting Report: New Directions in Biology and Disease of Skeletal Muscle 2014. (2014) (1)
- Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides. (2019) (1)
- Genetic Contribution to Common Heart Failure-Not So Rare? (2020) (1)
- Faculty Opinions recommendation of Clathrin isoform CHC22, a component of neuromuscular and myotendinous junctions, binds sorting nexin 5 and has increased expression during myogenesis and muscle regeneration. (2004) (1)
- Is Heart Failure Inherited?: Beyond the Cardiomyopathies, Genetics Do Matter. (2018) (1)
- Genome-wide association for heart failure: from discovery to clinical use. (2021) (1)
- At the heart of genetic disease: an interview with Elizabeth McNally (2019) (1)
- Trajectory analysis of cardiovascular phenotypes from biobank data uncovers novel genetic associations (2020) (1)
- Erratum: A role for alternative splicing in circadian control of exocytosis and glucose homeostasis. (2021) (1)
- Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014. (2014) (1)
- Healing health care. (2009) (1)
- lamin A/C and emerin in cardiomyocytes (2006) (1)
- BMP and WNT: the road to cardiomyocytes is paved with precise modulation. (2016) (1)
- Incorporating Genetic Testing Into Cardiovascular Practice. (2017) (1)
- The attachment disorders of muscle: failure to carb-load. (2012) (1)
- The Mitochondrial Bioenergetic Phenotype for Protection from Ischemia in Sur2-Mutant Mice (2010) (0)
- The Interplay between Heart and Muscle Disease (2011) (0)
- Abstract P2107: Improving Stem Cell Models Of Duchenne Muscular Dystrophy-related Cardiomyopathy By Incorporation Of Physiologic Mechanical Stress (2022) (0)
- Abstract 16756: Analysis of Cardiomyopathy Using Whole Genome Sequencing (2012) (0)
- Perspectives on: SGP Symposium on Muscle in Health and Disease Mechanisms of muscle weakness in muscular dystrophy (2010) (0)
- Abstract 2053: Cardiac Arrest and Resuscitation Increases Nos3-Dependent Formation of Circulating Nitrosylhemoglobin (HbNO) (2008) (0)
- Reduction of secondary vasospasm limits cardiomyopathy progression (2003) (0)
- Abstract 20693: MYBPHL is a Novel Myofilament Protein Implicated in Arrhythmia and Cardiomyopathy (2017) (0)
- The superhealing MRL background improves muscular dystrophy (2012) (0)
- Abstract 439: Trajectory Analysis of Left Ventricular Dimensions From Biobank Data Uncovers Novel Genetic Associations (2020) (0)
- Abstract 424: Vascular Smooth Muscle Cell Expression of S100a12 in Vivo Induces Enhanced Oxidative Stress & Vascular Remodeling (2008) (0)
- Abstract 427: Inhibition of Myocardial Romk Channels Blocks Ischemic Preconditioning Induced Cardio-protection (2018) (0)
- A novel lamin A / C truncation in chromosome 1-linked dilated cardiomyopathy with conduction disease (2003) (0)
- Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects. (2022) (0)
- A Case of Pulmonary Tuberculosis in the Setting of JAK Inhibitor Use (2020) (0)
- Abstract 343: Bayesian Selection of Modifier Genes in Hypertrophic Cardiomyopathy Through Whole Genome Sequencing (2015) (0)
- Prevalence and Pathogenesis of Dilated Cardiomyopathy (2017) (0)
- Molecular genetic analysis of mammalian sarcomeric myosin heavy chains (1989) (0)
- The sarcoglycan complex in autosomal recessive muscular dystrophy-LGMD2C (1996) (0)
- Elizabeth McNally: A Muscular Approach. (2015) (0)
- Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. (2022) (0)
- Abstract 13481: South Asian-specific MYBPC3 25bp Intronic Deletion Carriers Demonstrate Hypercontractility and Impaired Diastolic Function Under Exercise Stress (2020) (0)
- Myosin Binding Protein H-Like Regulates Myofilament Content in Atrial and a Subset of Ventricular Conduction System Cardiomyocytes (2019) (0)
- Abstract 21125: Deletion of Abcc9 Encoding Sulfonylurea-Sensitive and -Insensitive Katp Channels Leads to Cardiomyopathy and Neonatal Death (2010) (0)
- Abstract 17937: Distinct Genetic Modifiers of Heart and Muscle Fibrosis in Muscular Dystrophy Revealed by Whole Genome Scan (2010) (0)
- Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population (2020) (0)
- Inherited Myocardial Diseases (2005) (0)
- Cardioprotection in mice lacking cardiovascular KATP channels (2007) (0)
- Abstract P343: Physiologic Mechanical Stress In An Induced Pluripotent Stem Cell Derived Cardiomyocyte Model Of Duchene Muscular Dystrophy-related Cardiomyopathy Treated With A Membrane Resealant (2021) (0)
- Corrigendum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (1996) (0)
- Abstract MP171: Transcription Start Site Profiling Defines Promoter and Enhancer Regions for Cardiomyopathy Genes (2020) (0)
- Abstract MP208: A Shared Fog2 / Tbx5-dependent Gene Regulatory Network Identified By Transcription Factor-dependent Non-coding RNA Profiling Modulates Cardiac Rhythm (2021) (0)
- Table 1. [Summary of Molecular Genetic Testing...]. (2014) (0)
- Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy (2019) (0)
- Impaired lamin localization to the nuclear envelope is responsible for nuclear damage in LMNA mutant iPSC-derived cardiomyocytes (2021) (0)
- Abstract MP111: Loss of Myosin Binding Protein H-like Causes Cardiacconduction Abnormalities (2019) (0)
- Functional Consequences of Incidentally Discovered KCNQ1 Variants Determined by Automated Electrophysiology (2020) (0)
- Aortic Dissection With Pregnancy-Anticipating Prepartum and Postpartum Risk. (2020) (0)
- Abstract 469: Genomic Context Predicts Dilated but Not Hypertrophic Cardiomyopathy (2019) (0)
- Dangerous liaisons : flirtations between oncogenic BRAF and GRP 78 in drug-resistant melanomas (0)
- Abstract 15522: New DEStiny Revealed: A Young Women Post Ablation for WPW Syndrome With Recurrent Syncope and Progressive Myopathy (2017) (0)
- Epigenetic reprogramming to prevent genetic cardiomyopathy. (2021) (0)
- Abstract 5313: Reduction of S100A12 in Marfan Syndrome Aortic Smooth Muscle Cells Attenuates Inflammatory and Apoptotic Pathways (2009) (0)
- Genetic Pathways of Vascular (2012) (0)
- New DEStiny Revealed. (2018) (0)
- Gene Editing for the Heart: Correcting Dystrophin Mutations. (2017) (0)
- Abstract 116: Mybphl is a Novel Myofilament Component Implicated in Arrhythmia and Dilated Cardiomyopathy (2018) (0)
- Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. (2021) (0)
- Recombinant annexin A6 promotes membrane repair in a stem cell derived-cardiomyocyte model of dystrophic cardiomyopathy (2022) (0)
- Abstract 331: Loss of Myosin Binding Protein H-Like Causes Cardiac Conduction Abnormalities (2019) (0)
- I.I.10 Signaling pathways and modifiers in cardiac function in muscular dystrophy (2015) (0)
- M.I.2 The matrix as a modifier for muscular dystrophy (2013) (0)
- Abstract P2112: Human Genetics And Engineered Heart Tissues Link Frail MYH7 Alleles To Delayed Maturation And Ventricular Noncompaction (2022) (0)
- Abstract P397: MTCH2 As A Modifier Of Cardiomyopathy (2021) (0)
- Abstract 16157: A TBX5 Driven Gene Regulatory Network Prevents Atrial Fibrillation (2015) (0)
- Elizabeth McNally: taking on inherited cardiovascular disorders. Interviewed by Alice McCarthy. (2011) (0)
- Cytoskeletal Nuclear Links in the Cardiomyocyte (2013) (0)
- Recurrent Sepsis in Advanced Huntingtons Disease: A Difficult Case of Capacity (2019) (0)
- D.I.3. Managing the heart in muscular dystrophy (2011) (0)
- Differential requirement for individual sarcoglycans in the function of the dystrophin-glycoprotein complex (2000) (0)
- Abstract 391: The Pathophysiological Role of MYBPHL in Dilated Cardiomyopathy (2016) (0)
- Abstract 2460: Loss of NOS3 Worsens Cardiovascular Outcomes Following Cardiac Arrest (2009) (0)
- Abstract P2118: Modeling Arrhythmia Risk In Human Stem Cell Derived Cardiomyocytes (2022) (0)
- Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy (2022) (0)
- South Asian-Specific MYBPC3Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress (2021) (0)
- Abstract 16645: Abcc9 Contributes to Mitochondrial Katp Function and Protection From Cardiomyopathy (2011) (0)
- Response to Letter Regarding Article, “Population-Based Variation in Cardiomyopathy Genes” (2012) (0)
- Antisense polynucleotides to induce exon skipping and treatment procedures dystrophies (2013) (0)
- Abstract 261: Evaluating MTCH2 as a Modifier of Cardiomyopathy (2020) (0)
- A decade of optimizing drug development for rare neuromuscular disorders through TACT (2019) (0)
- Abstract P3072: Human Induced Pluripotent Stem Cell Derived Cardiomyocytes (iPSC-CMs) Respond To Inflammatory Stimuli Through Innate Immune Responses (2022) (0)
- Faculty Opinions recommendation of A Pax3/Pax7-dependent population of skeletal muscle progenitor cells. (2005) (0)
- Abstract 74: Whole Genome Sequencing as a Diagnostic Tool for Cardiomyopathy (2017) (0)
- EHD1 mediates vesicle trafficking required for normal muscle growth and tubule development (2014) (0)
- Genetic Studies of Atrial Fibrillation in Diverse Cohorts and Identification of Diverse Phenotypes Associated With Single Genes. (2021) (0)
- Abstract 16066: Genomic Autopsy of 103 Sudden Deaths in the Young Reveals the Importance of Cardiomyopathy Genes and Non-Mendelian Risk (2020) (0)
- Author response: Thrombospondin expression in myofibers stabilizes muscle membranes (2016) (0)
- Abstract 14308: Integrative Epigenomic Analysis Identifies Enhancer Modifying Variants Linked to Cardiomyopathy Genes (2020) (0)
- White Noise: Pneumomediastinum, A Rare Consequence of Cocaine Ingestion (2020) (0)
- Effects of Glucocorticoids in Murine Models of Duchenne and Limb-Girdle Muscular Dystrophy. (2023) (0)
- Faculty Opinions recommendation of Rb is required for progression through myogenic differentiation but not maintenance of terminal differentiation. (2004) (0)
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