Eric Hoffman
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Pharmacy researcher at Binghamton University
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(Suggest an Edit or Addition)Eric Hoffman'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
- Dystrophin: The protein product of the duchenne muscular dystrophy locus (1987) (4384)
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals (1987) (2306)
- Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts (1989) (892)
- Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. (1988) (842)
- Glucose restriction inhibits skeletal myoblast differentiation by activating SIRT1 through AMPK-mediated regulation of Nampt. (2008) (747)
- Sir2 regulates skeletal muscle differentiation as a potential sensor of the redox state. (2003) (609)
- Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface (1988) (604)
- Expression Profiling in the Muscular Dystrophies Identification of Novel Aspects of Molecular Pathophysiology (2000) (501)
- β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (1995) (454)
- Immunoelectron microscopic localization of dystrophin in myofibres (1988) (439)
- The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs (1988) (430)
- Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. (1991) (420)
- Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene. (1994) (402)
- Variability in muscle size and strength gain after unilateral resistance training. (2005) (401)
- Efficacy of systemic morpholino exon‐skipping in duchenne dystrophy dogs (2009) (378)
- Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans. (2005) (366)
- Dystrophin abnormalities in Duchenne/Becker muscular dystrophy (1989) (325)
- ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. (2005) (314)
- Activation of the endoplasmic reticulum stress response in autoimmune myositis: potential role in muscle fiber damage and dysfunction. (2005) (311)
- A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis (1991) (309)
- Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. (2006) (298)
- Genomics, intellectual disability, and autism. (2012) (298)
- Subcellular fractionation of dystrophin to the triads of skeletal muscle (1987) (296)
- The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation. (2006) (295)
- Somatic reversion/suppression of the mouse mdx phenotype in vivo (1990) (293)
- Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. (1990) (292)
- Gene profiling in spinal cord injury shows role of cell cycle in neuronal death (2003) (268)
- Early onset of inflammation and later involvement of TGFβ in Duchenne muscular dystrophy (2005) (261)
- Improved diagnosis of Becker muscular dystrophy by dystrophin testing (1989) (261)
- Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta. (2009) (259)
- Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations (2001) (257)
- Conservation of the Duchenne muscular dystrophy gene in mice and humans. (1987) (246)
- Normal myogenic cells from newborn mice restore normal histology to degenerating muscles of the mdx mouse (1990) (245)
- MeCP2 mutations in children with and without the phenotype of Rett syndrome (2001) (240)
- Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study (2017) (232)
- Deacetylase inhibitors increase muscle cell size by promoting myoblast recruitment and fusion through induction of follistatin. (2004) (231)
- Mutations in the sarcoglycan genes in patients with myopathy. (1997) (226)
- Mutations in the integrin α7 gene cause congenital myopathy (1998) (226)
- Caveolin-3 in muscular dystrophy. (1998) (222)
- Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy (2015) (219)
- Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. (2006) (218)
- Contemporary Cardiac Issues in Duchenne Muscular Dystrophy (2015) (217)
- Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding (1992) (214)
- ACTN3 and MLCK genotype associations with exertional muscle damage. (2005) (212)
- Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification (2001) (207)
- Microtubules Underlie Dysfunction in Duchenne Muscular Dystrophy (2012) (205)
- Identification of a chromosome 6-encoded dystrophin-related protein. (1990) (204)
- Cell and fiber type distribution of dystrophin (1988) (202)
- Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. (1998) (201)
- An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss (2015) (199)
- Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. (2013) (194)
- Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (2014) (192)
- A web-accessible complete transcriptome of normal human and DMD muscle (2002) (190)
- Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. (1995) (185)
- Sources of variability and effect of experimental approach on expression profiling data interpretation (2002) (182)
- Immune-mediated pathology in Duchenne muscular dystrophy (2015) (181)
- Feline muscular dystrophy with dystrophin deficiency. (1989) (180)
- Gene Expression Profiling in DQA1*0501+ Children with Untreated Dermatomyositis: A Novel Model of Pathogenesis1 (2002) (178)
- Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy (1996) (173)
- The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measur (2013) (172)
- Response of rat muscle to acute resistance exercise defined by transcriptional and translational profiling (2002) (168)
- Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. (2008) (162)
- Mutations in the integrin alpha7 gene cause congenital myopathy. (1998) (161)
- Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. (2010) (161)
- Molecular responses of human muscle to eccentric exercise. (2003) (158)
- Preclinical drug trials in the mdx mouse: Assessment of reliable and sensitive outcome measures (2009) (158)
- Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies (2012) (157)
- Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. (1990) (157)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies (1995) (157)
- Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. (1989) (155)
- The cooperative international neuromuscular research group duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used (2013) (146)
- Dystrophinopathy in isolated cases of myopathy in females (1992) (144)
- VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects (2013) (142)
- Dystrophin deficiency causes lethal muscle hypertrophy in cats (1992) (140)
- An interactive power analysis tool for microarray hypothesis testing and generation (2006) (139)
- Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. (1997) (139)
- Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy (1996) (137)
- Bodywide skipping of exons 45–55 in dystrophic mdx52 mice by systemic antisense delivery (2012) (137)
- Dystrophin-deficient cardiomyopathy in mouse: Expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart (2008) (134)
- Interactively optimizing signal-to-noise ratios in expression profiling: project-specific algorithm selection and detection p-value weighting in Affymetrix microarrays (2004) (133)
- Overexcited or inactive: Ion channels in muscle disease (1995) (133)
- Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study (2015) (131)
- Changes in Ubiquitin Proteasome Pathway Gene Expression in Skeletal Muscle With Exercise and Statins (2005) (131)
- Heart involvement in muscular dystrophies due to sarcoglycan gene mutations (1999) (130)
- Constitutive activation of MAPK cascade in acute quadriplegic myopathy (2004) (130)
- GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle. (2006) (129)
- A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy (2000) (129)
- Secreted proteome profiling in human RPE cell cultures derived from donors with age related macular degeneration and age matched healthy donors. (2006) (127)
- Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
- Differential dependency network analysis to identify condition-specific topological changes in biological networks (2009) (123)
- Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. (2008) (121)
- The rumpshaker mutation in spastic paraplegia (1994) (121)
- Calorie-related rapid onset of alveolar loss, regeneration, and changes in mouse lung gene expression. (2004) (117)
- rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy (1999) (115)
- Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy (2014) (114)
- Functional characteristics of dystrophic skeletal muscle: insights from animal models. (2002) (114)
- Molecular pathophysiology and targeted therapeutics for muscular dystrophy. (2001) (113)
- ACE ID genotype and the muscle strength and size response to unilateral resistance training. (2006) (113)
- Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy (2009) (113)
- Expression profiling reveals metabolic and structural components of extraocular muscles. (2002) (112)
- Patterns of global gene expression in rat skeletal muscle during unloading and low-intensity ambulatory activity. (2003) (111)
- Tissue-specific alternative splicing of TCF7L2 (2009) (110)
- Balancing muscle hypertrophy and atrophy (2004) (109)
- A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice (1994) (109)
- Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. (2002) (108)
- Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients. (2014) (107)
- Full Functional Rescue of a Complete Muscle (TA) in Dystrophic Hamsters by Adeno-Associated Virus Vector-Directed Gene Therapy (2000) (106)
- Fgfr4 Is Required for Effective Muscle Regeneration in Vivo (2006) (106)
- Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 (1999) (105)
- Slug Is a Novel Downstream Target of MyoD (2002) (105)
- Laminopathies disrupt epigenomic developmental programs and cell fate (2016) (105)
- Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy (1996) (105)
- Metabolite signatures of exercise training in human skeletal muscle relate to mitochondrial remodelling and cardiometabolic fitness (2014) (104)
- Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype (2002) (102)
- Gene expression profiling of experimental traumatic spinal cord injury as a function of distance from impact site and injury severity. (2005) (102)
- Sexual dimorphism in immune response genes as a function of puberty (2006) (100)
- Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. (2011) (96)
- Losartan Decreases Cardiac Muscle Fibrosis and Improves Cardiac Function in Dystrophin-Deficient Mdx Mice (2011) (96)
- SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy (2011) (95)
- Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome (2003) (94)
- Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping (2020) (94)
- Molecular findings in symptomatic and pre-symptomatic Alexander disease patients (2002) (93)
- Proteome analysis of skeletal muscle from obese and morbidly obese women. (2005) (93)
- The basal lamina is a physical barrier to herpes simplex virus-mediated gene delivery to mature muscle fibers (1996) (92)
- Probe set algorithms: is there a rational best bet? (2006) (92)
- Identification of Disease Specific Pathways Using in Vivo SILAC Proteomics in Dystrophin Deficient mdx Mouse* (2013) (91)
- Direct analysis of lipids and small metabolites in mouse brain tissue by AP IR-MALDI and reactive LAESI mass spectrometry. (2010) (91)
- Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. (1997) (90)
- Polylysine modification of adenoviral fiber protein enhances muscle cell transduction. (1999) (90)
- Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study (2015) (90)
- DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study (2016) (90)
- In Vivo and in Vitro Characterization of Novel Neuronal Plasticity Factors Identified following Spinal Cord Injury* (2005) (89)
- Multi-omic integrated networks connect DNA methylation and miRNA with skeletal muscle plasticity to chronic exercise in Type 2 diabetic obesity. (2014) (88)
- Neuronal plasticity after spinal cord injury: identification of a gene cluster driving neurite outgrowth (2005) (88)
- Skeletal muscle gene expression in response to resistance exercise: sex specific regulation (2010) (88)
- The frequency of patients with dystrophin abnormalities in a limb‐girdle patient population (1991) (87)
- Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency. (1997) (87)
- Definition of the unique human extraocular muscle allotype by expression profiling. (2005) (87)
- Functional polymorphisms associated with human muscle size and strength. (2004) (86)
- Genotype Associations With Increases In Blood Creatine Kinase And Myoglobin Following Intense Eccentric Exercise: 883 Board #105 9:00 AM ??? 10:30 AM (2005) (85)
- Novel CLCN1 mutations with unique clinical and electrophysiological consequences. (2002) (85)
- Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy (1994) (84)
- A Longitudinal, Integrated, Clinical, Histological and mRNA Profiling Study of Resistance Exercise in Myositis (2010) (83)
- Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. (1992) (82)
- Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. (1991) (82)
- Metabolic remodeling agents show beneficial effects in the dystrophin-deficient mdx mouse model (2012) (82)
- Resistance exercise training influences skeletal muscle immune activation: a microarray analysis. (2012) (81)
- Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy (2012) (81)
- Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo (2008) (80)
- Prednisolone‐induced changes in dystrophic skeletal muscle (2005) (80)
- Viral gene delivery to skeletal muscle: insights on maturation-dependent loss of fiber infectivity for adenovirus and herpes simplex type 1 viral vectors. (1997) (80)
- The paradox of muscle hypertrophy in muscular dystrophy. (2012) (79)
- Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation (2004) (79)
- Natural progression of childhood asthma symptoms and strong influence of sex and puberty. (2014) (78)
- A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. (1995) (76)
- RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. (1997) (76)
- Congenital Titinopathy: Comprehensive characterization and pathogenic insights (2018) (75)
- IGF-II gene region polymorphisms related to exertional muscle damage. (2007) (74)
- Endothelial cell activation and neovascularization are prominent in dermatomyositis (2006) (73)
- Forty-eight hours of unloading and 24 h of reloading lead to changes in global gene expression patterns related to ubiquitination and oxidative stress in humans. (2010) (73)
- Metataxonomic and Metagenomic Approaches vs. Culture-Based Techniques for Clinical Pathology (2016) (73)
- Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. (2012) (73)
- Delayed inflammatory mRNA and protein expression after spinal cord injury (2011) (72)
- Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis (1994) (72)
- Myotonia and the muscle chloride channel (1996) (72)
- Expression of two temporally distinct microglia‐related gene clusters after spinal cord injury (2006) (71)
- Relationships between circadian rhythms and modulation of gene expression by glucocorticoids in skeletal muscle. (2008) (71)
- Asthmatic airway epithelium is intrinsically inflammatory and mitotically dyssynchronous. (2011) (71)
- Chapter 8 The Animal Models of Duchenne Muscular Dystrophy: Windows on the Pathophysiological Consequences of Dystrophin Deficiency (1991) (70)
- Congenital Muscular Dystrophy Overview (2012) (70)
- Deletion of galectin-3 exacerbates microglial activation and accelerates disease progression and demise in a SOD1G93A mouse model of amyotrophic lateral sclerosis (2012) (69)
- Herpes simplex virus vector‐mediated dystrophin gene transfer and expression in MDX mouse skeletal muscle (1999) (69)
- Skipping toward personalized molecular medicine. (2007) (68)
- Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. (1996) (68)
- CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage. (2010) (67)
- Interleukin-15 and interleukin-15R alpha SNPs and associations with muscle, bone, and predictors of the metabolic syndrome. (2008) (67)
- Homozygous α‐sarcoglycan mutation in two siblings: One asymptomatic and one steroid‐responsive mild limb–girdle muscular dystrophy patient (1998) (67)
- Sphingosine-1-Phosphate Enhances Satellite Cell Activation in Dystrophic Muscles through a S1PR2/STAT3 Signaling Pathway (2012) (66)
- Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy (1995) (66)
- Glucocorticoid-Treated Mice Are an Inappropriate Positive Control for Long-Term Preclinical Studies in the mdx Mouse (2012) (66)
- Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. (1999) (65)
- Clinical utility of serum biomarkers in Duchenne muscular dystrophy (2016) (65)
- Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. (1992) (63)
- Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. (1988) (63)
- Membrane Sealant Poloxamer P188 Protects Against Isoproterenol Induced Cardiomyopathy in Dystrophin Deficient Mice (2011) (63)
- Exercise training increases electron and substrate shuttling proteins in muscle of overweight men and women with the metabolic syndrome. (2005) (62)
- Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy (2001) (62)
- TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy. (2015) (62)
- Is myoblast transplantation effective? (1998) (62)
- A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground. (2009) (61)
- Skeletal muscle dictates the fibrinolytic state after exercise training in overweight men with characteristics of metabolic syndrome (2003) (61)
- Proteomic responses of skeletal and cardiac muscle to exercise (2011) (59)
- Sepsis alters the megakaryocyte-platelet transcriptional axis resulting in granzyme B-mediated lymphotoxicity. (2009) (59)
- Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies. (2013) (59)
- Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1997) (59)
- Diagnosis and etiology of congenital muscular dystrophy: We are halfway there (2016) (58)
- Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. (2009) (58)
- Dystrophin distribution in heterozygote mdx mice (1989) (58)
- Limb-Girdle Muscular Dystrophy Overview (2012) (58)
- Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy (1998) (57)
- Single-Molecule Long-Read 16S Sequencing To Characterize the Lung Microbiome from Mechanically Ventilated Patients with Suspected Pneumonia (2014) (56)
- Differential expression of immunoregulatory genes in male and female Norway rats following infection with Seoul virus (2004) (56)
- Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first‐in‐class dissociative steroidal anti‐inflammatory drug (2018) (56)
- A novel X chromosome-linked genetic cause of recurrent spontaneous abortion. (2001) (55)
- Mathematical modelling of transcriptional heterogeneity identifies novel markers and subpopulations in complex tissues (2016) (55)
- Gene expression and muscle fiber function in a porcine ICU model. (2009) (55)
- Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. (2016) (54)
- Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. (2008) (54)
- DNA microarray analysis of neonatal mouse lung connects regulation of KDR with dexamethasone-induced inhibition of alveolar formation. (2004) (54)
- The PEPR GeneChip data warehouse, and implementation of a dynamic time series query tool (SGQT) with graphical interface (2004) (54)
- Microarray analysis of the temporal response of skeletal muscle to methylprednisolone: comparative analysis of two dosing regimens. (2007) (54)
- Progression of volume load and muscular adaptation during resistance exercise (2011) (54)
- Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2) (1997) (53)
- Molecular genetics of familial spastic paraplegia: a multitude of responsible genes (1996) (52)
- Recruitment of mast cells to muscle after mild damage (1996) (52)
- Microarray analysis reveals novel features of the muscle aging process in men and women. (2013) (52)
- Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies (2010) (52)
- Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. (2012) (51)
- Myostatin and follistatin polymorphisms interact with muscle phenotypes and ethnicity. (2009) (51)
- Genetic and Clinical Heterogeneity in eIF2B-Related Disorder (2008) (51)
- Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. (1999) (51)
- Delivery of α- and β-Sarcoglycan by Recombinant Adeno-Associated Virus: Efficient Rescue of Muscle, but Differential Toxicity (2002) (51)
- Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex (1996) (51)
- The genomic structure of the human skeletal muscle sodium channel gene. (1992) (51)
- PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males (2007) (50)
- Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology (2002) (49)
- Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. (1998) (49)
- Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials. (2014) (48)
- MyoD Acetylation Influences Temporal Patterns of Skeletal Muscle Gene Expression* (2007) (48)
- Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function (2019) (48)
- THE MUSCLE STRENGTH AND SIZE RESPONSE TO UPPER ARM,UNILATERAL RESISTANCE TRAINING AMONG ADULTS WHO ARE OVERWEIGHT AND OBESE (2007) (47)
- Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy (2015) (47)
- Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. (1992) (47)
- In vivo filtering of in vitro expression data reveals MyoD targets. (2003) (47)
- Muscle maturation: implications for gene therapy. (1998) (47)
- Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays. (2002) (46)
- A rippling muscle disease gene is localized to 1q41 (1994) (46)
- Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle. (1995) (46)
- A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation (2005) (45)
- VBP15: preclinical characterization of a novel anti-inflammatory delta 9,11 steroid. (2013) (45)
- Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry. (2012) (45)
- Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin (1989) (45)
- Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. (2005) (45)
- Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis. (1996) (44)
- Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy (2017) (44)
- CROSS-REACTIVE PROTEIN IN DUCHENNE MUSCLE (1989) (44)
- Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency (2003) (44)
- Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome (1987) (43)
- Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1996) (43)
- Alterations in osteopontin modify muscle size in females in both humans and mice. (2013) (43)
- X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. (1996) (43)
- Genotype/phenotype correlations in Duchenne/Becker dystrophy. (1993) (43)
- Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. (1994) (42)
- PCB congener specific oxidative stress response by microarray analysis using human liver cell line. (2010) (42)
- DDN: a caBIG® analytical tool for differential network analysis (2011) (42)
- Murine Cytomegalovirus Infection Increases Aortic Expression of Proatherosclerotic Genes (2003) (42)
- Functional and Molecular Effects of Arginine Butyrate and Prednisone on Muscle and Heart in the mdx Mouse Model of Duchenne Muscular Dystrophy (2010) (42)
- Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. (1989) (42)
- Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes (2018) (42)
- Erratum: Calorie-related rapid onset of alveolar loss, regeneration, and changes in mouse lung gene expression (American Journal of Physiology - Lung Cellular and Molecular Physiology (May 2004) 30 (L896-L906)) (2004) (42)
- Rhinovirus infection in young children is associated with elevated airway TSLP levels (2014) (41)
- Intracellular expression profiling by laser capture microdissection: three novel components of the neuromuscular junction. (2005) (41)
- Phospholipase A2 activity in dystrophinopathies (1995) (41)
- CCL2 and CCR2 variants are associated with skeletal muscle strength and change in strength with resistance training. (2010) (41)
- Hyperkalemic periodic paralysis (1993) (40)
- Clinical Variability in Rett Syndrome (2003) (40)
- Analysis of the toxicogenomic effects of exposure to persistent organic pollutants (POPs) in Slovakian girls: correlations between gene expression and disease risk. (2012) (40)
- Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. (1991) (40)
- Role of the nerve in determining fetal skeletal muscle phenotype (1998) (40)
- Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. (2011) (40)
- Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. (2008) (40)
- Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs. (2013) (40)
- Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit (2018) (40)
- A randomized clinical trial to assess the effect of statins on skeletal muscle function and performance: rationale and study design. (2010) (39)
- MR imaging findings in children with merosin-deficient congenital muscular dystrophy. (1999) (39)
- Guidelines: Expression profiling — best practices for data generation and interpretation in clinical trials (2004) (39)
- Enormous dystrophin in a patient with Becker muscular dystrophy (1990) (38)
- Differential gene expression and a functional analysis of PCB-exposed children: understanding disease and disorder development. (2012) (38)
- Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. (1989) (38)
- Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease (2016) (38)
- Deficiency of different nitric oxide synthase isoforms activates divergent transcriptional programs in cardiac hypertrophy. (2003) (38)
- Resistin Polymorphisms Are Associated with Muscle, Bone, and Fat Phenotypes in White Men and Women (2007) (38)
- Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle (2017) (38)
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- Predicting age at loss of ambulation in Duchenne muscular dystrophy with deep phenotypic measures (2014) (0)
- American Federation for Medical Research Eastern Regional Meeting April 26-27, 2011 (2011) (0)
- The CNTF G1357A Polymorphism and Gender Alter the Muscle Strength Response to Resistance Training: 1783 (2007) (0)
- Validation of a Genetic Risk Score Based on Single Nucleotide Polymorphisms Implicated in Adult Bone Fragility and Associated with Pediatric Bone Density (2017) (0)
- Reliability Analysis of Transcriptional Regulatory Networks (2008) (0)
- Pregnancy associated myotonia (1996) (0)
- Table 4. [Autosomal Dominant LGMD: Clinical Findings]. (2012) (0)
- functiondoes not impair mouse diaphragm isotonic Myofibrillar or mitochondrial creatine kinase deficiency (2015) (0)
- ACTN3 Genotype Effects on Skeletal Muscle Gene Expression: 867 (2010) (0)
- 186A ABSTRACTS-Cardiac Function and Heart Failure (2002) (0)
- Myotonic dystrophy muscle shows decreased insulin receptor RNA: relationship to increased insulin resistance (1996) (0)
- Science Signaling Podcast: 7 August 2012 (2012) (0)
- P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population (2011) (0)
- Biomarkers for Muscle Disease Gene Therapy (2019) (0)
- The Role of Microglia and NADPH Oxidase in Traumatic Spinal Cord Injury (2006) (0)
- Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle (2017) (0)
- An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss (2015) (0)
- Single Nucleotide Polymorphisms and Inflammation and Oxidative Stress Biomarkers in Community Adults: 2200 (2011) (0)
- Eastern Regional Meeting Abstracts (2011) (0)
- Applying A Novel Population Assignment Method To A Cohort Of Children With Asthma: Implications For Pediatric Research (2010) (0)
- TIMP-1 Nucleates a Critical Bronchial Epithelial Response Network to Tobacco Smoke in Asthma (2012) (0)
- Fetal Muscle Biopsy (2001) (0)
- Endothelial Nitric Oxide Synthase ( NOS 3 ) + 894 G > T Associates with Physical Activity andMuscle Performance among Young Adults (2014) (0)
- Changes In Aquaporin-4 Gene Expression In Skeletal Muscle Is Associated With Statin-induced Myalgia: 542 (2007) (0)
- Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies (2012) (0)
- influences damage mediated by leukotrienes Timing of hyperoxic exposure during alveolarization (2007) (0)
- The mouse rumpshaker mutation of the proteolipid protein in human X-linked recessive spastic paraplegia (1994) (0)
- Use of Primary Retinal Pigment Epithelia (RPE) Cultures Derived From Healthy and AMD Affected Post–Mortem Donor Eyes for the Evaluation of Injury–Induced Differences in Gene Expression Patterns (2005) (0)
- Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy (2020) (0)
- Prevalence of vitamin D insufficiency in African-American children with forearm fractures (2007) (0)
- ACTN3 genotype predicts metabolic, anthropometric and cardiovascular phenotypes in a young, healthy population (711.8) (2014) (0)
- Influence of β1 Adrenergic Receptor Genotype on Longitudinal Measures of Left Ventricular Ejection Fraction and Responsiveness to ß-Blocker Therapy in Patients With Duchenne Muscular Dystrophy (2022) (0)
- Gene Expression Profiling of the Repeated Bout Effect (2004) (0)
- P.10.21 Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders (2013) (0)
- FP.27 Results of a double-blind cross-over trial of vamorolone in DMD: A safer alternative to corticosteroids (2022) (0)
- G.P.254 VISION – DMD: Drug development of VBP15, an experimental steroid-like drug for DMD (2015) (0)
- DMD - TREATMENT EP.140 Long-term efficacy and safety of viltolarsen in the treatment of Duchenne muscular dystrophy (2021) (0)
- DMD CLINICAL THERAPIES I P.114Vamorolone as a replacement for corticosteroids in Duchenne muscular dystrophy: phase 2a results in 48 DMD boys (2018) (0)
- Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study. (2023) (0)
- P.133 Daily regimens of prednisone, deflazacort and vamorolone improve motor function similarly in patients with Duchenne muscular dystrophy (2022) (0)
- D.P.1 Next-generation sequencing approach for muscular dystrophy diagnosis: Advantages and pitfalls of new diagnostic technology (2012) (0)
- P.336Vision DMD: a phase IIb randomized, double-blind, parallel group, placebo- and active-controlled study to assess the efficacy and safety of vamorolone in boys with Duchenne muscular dystrophy (2019) (0)
- Duchenne Muscular Dystrophy in monozygotic twins: first follow up study worldwide (2016) (0)
- P.462 Exploring physical activity levels and sleep efficiency relationships among boys with Duchenne muscular dystrophy (DMD) (2017) (0)
- DMD – ANIMAL MODELS & PRECLINICAL TREATMENT P.217 Enhancing the rigor and reproducibility of preclinical efficacy drug trials for DMD using reduced number of wild type and mdx control mice (2020) (0)
- P.71 Vamorolone has less impact than daily prednisone or deflazacort on height and body mass index in patients with Duchenne muscular dystrophy (DMD) (2022) (0)
- P.344 A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy (2016) (0)
- P4.12 AMPK and PPAR-delta agonists show beneficial effects in the mdx mouse model (2011) (0)
- D37 Vision DMD: A drug development program for vamorolone in Duchenne muscular dystrophy (2017) (0)
- OD01 Clinical characterisation of a large international congenital titinopathy cohort (2017) (0)
- Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy (2022) (0)
- DMD – BIOMARKERS & OUTCOME MEASURES P.118 Elevation of fast, but not slow TnI in plasma from Duchenne and Becker muscular dystrophy patients suggests differential fiber response to disease (2020) (0)
- P.226 Vision DMD: Vamorolone drug development program for Duchenne muscular dystrophy (2016) (0)
- DMD - TREATMENT EP.147 2.5-years of vamorolone treatment in Duchenne muscular dystrophy: Results of an open label long-term extension (2021) (0)
- P.309 Success of preclinical drug trials using reliable and reproducible endpoints in mouse models of neuromuscular diseases (2017) (0)
- FP.03 The spine fracture burden in boys with DMD treated with the novel dissociative steroid vamorolone versus deflazacort and prednisone (2022) (0)
- DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.302Genetic association study of articular range of motion in the CINRG Duchenne natural history study (2018) (0)
- P.59 Long-term benefits of glucocorticoids in Duchenne muscular dystrophy: is it worth it? (2017) (0)
- DMD CLINICAL THERAPIES II P.128A phase II, dose finding study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of NS-065/NCNP-01 in boys with Duchenne muscular dystrophy (2018) (0)
- Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy. (2023) (0)
- P.404 Drug development of vamorolone for Duchenne muscular dystrophy (2017) (0)
- Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials (2023) (0)
- REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS P.297Treatment responsive outcome measures in mouse models of neuromuscular disease (2018) (0)
- T.O.2 Systemic delivery of morpholino oligonucleotides to skip mutations in the dystrophin gene of the mouse and dog (2007) (0)
- S.O.2 Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement (2016) (0)
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What Schools Are Affiliated With Eric Hoffman?
Eric Hoffman is affiliated with the following schools:
