List of works by Eric Hoffman

A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

scientific article

A ground truth based comparative study on clustering of gene expression data.

scientific article

A long-read RNA-seq approach to identify novel transcripts of very large genes

scientific article published on 06 July 2020

A longitudinal, integrated, clinical, histological and mRNA profiling study of resistance exercise in myositis

scientific article

A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia

scientific article published on 11 February 2022

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation

scientific article published in April 2001

A novel laminin 2 isoform in severe laminin 2 deficient congenital muscular dystrophy

article

A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy

scientific article (publication date: 24 October 2000)

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

scientific article

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

scientific article published on 01 December 2000

A polymorphism near IGF1 is associated with body composition and muscle function in women from the Health, Aging, and Body Composition Study

scientific article

A randomized clinical trial to assess the effect of statins on skeletal muscle function and performance: rationale and study design

scientific article

A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground

scientific article

A robust in vitro screening assay to identify NF-kappaB inhibitors for inflammatory muscle diseases

scientific article published on 21 July 2009

A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice

scientific article published on 01 March 1994

A web-accessible complete transcriptome of normal human and DMD muscle

scientific article

ACE ID genotype and the muscle strength and size response to unilateral resistance training

scientific article published in June 2006

ACTN3 and MLCK genotype associations with exertional muscle damage

scientific article

ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women

scientific article

AKT1 polymorphisms are associated with risk for metabolic syndrome.

scientific article

Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry

scientific article published on December 2012

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions

scientific article published on 01 October 1992

Adiposity attenuates muscle quality and the adaptive response to resistance exercise in non-obese, healthy adults

scientific article

Allometric scaling of biceps strength before and after resistance training in men

scientific article published on 01 June 2007

Allometric scaling of isometric biceps strength in adult females and the effect of body mass index

scientific article

Alterations in osteopontin modify muscle size in females in both humans and mice.

scientific article published on June 2013

An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss.

scientific article

An interactive power analysis tool for microarray hypothesis testing and generation

scientific article published on 17 January 2006

Analysis of the toxicogenomic effects of exposure to persistent organic pollutants (POPs) in Slovakian girls: correlations between gene expression and disease risk

scientific article published on 8 December 2011

Application of scaling factors in simultaneous modeling of microarray data from diverse chips

scientific article

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Association of age with muscle size and strength before and after short-term resistance training in young adults

scientific article

Asthmatic airway epithelium is intrinsically inflammatory and mitotically dyssynchronous

scientific article

Asymmetric independence modeling identifies novel gene-environment interactions

article

Asymptomatic dystrophinopathy

scientific article published on 01 March 1997

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy

scientific article

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

scientific article published on 15 January 2018

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.

scientific article

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

scientific article published on 01 December 1996

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

scientific article

Biomarker identification by knowledge-driven multilevel ICA and motif analysis.

scientific article

Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery

scientific article

CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage

scientific article published on 25 March 2010

CCL2 and CCR2 variants are associated with skeletal muscle strength and change in strength with resistance training.

scientific article

CNTF 1357 G -> A polymorphism and the muscle strength response to resistance training

scientific article published on 23 July 2009

CYP1A1 and MT1K are congener specific biomarker genes for liver diseases induced by PCBs

scientific article published on 16 October 2007

Calorie-related rapid onset of alveolar loss, regeneration, and changes in mouse lung gene expression ⬇️

scientific article published on October 31, 2003

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

scientific article published on 01 March 1999

Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies

scientific article published on 05 January 2012

Cardiac transplantation in a Duchenne muscular dystrophy carrier

scientific article published on 01 December 1998

Caveolin-3 in muscular dystrophy

scientific article

Changes in ubiquitin proteasome pathway gene expression in skeletal muscle with exercise and statins.

scientific article

Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid

scientific article published on February 2012

Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype

scientific article

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

scientific article published on 01 May 1988

Characterization of the ZBTB42 gene in humans and mice

scientific article

Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays.

scientific article

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

scientific article published in February 2003

Clinical utility of serum biomarkers in Duchenne muscular dystrophy

scientific article

Collaborative translational research leading to multicenter clinical trials in Duchenne muscular dystrophy: the Cooperative International Neuromuscular Research Group (CINRG).

scientific article

Computational Analysis of Muscular Dystrophy Sub-types Using A Novel Integrative Scheme

scientific article

Confocal analysis of the dystrophin protein complex in muscular dystrophy

scientific article published on 01 February 2001

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

scientific article published on 25 April 2018

Conservation of the Duchenne muscular dystrophy gene in mice and humans

scientific article published in October 1987

Constitutive activation of MAPK cascade in acute quadriplegic myopathy.

scientific article published on February 2004

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy

scientific article

Correction: Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy within a Natural History Study

scientific article published on 19 July 2016

Correction: Functional and Molecular Effects of Arginine Butyrate and Prednisone on Muscle and Heart in the Dystrophin Deficient mice

Correction: Functional and Molecular Effects of Arginine Butyrate and Prednisone on Muscle and Heart in the Dystrophin Deficient mdx mice

scientific article

Correction: Functional and Molecular Effects of Arginine Butyrate and Prednisone on Muscle and Heart in the Dystrophin Deficient mdx mice.

scientific article published on 31 August 2010

Cross-reactive protein in Duchenne muscle

scientific article published on 01 November 1989

DDN: a caBIG® analytical tool for differential network analysis

scientific article

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

scientific article published on 24 June 2016

DNA microarray analysis of neonatal mouse lung connects regulation of KDR with dexamethasone-induced inhibition of alveolar formation ⬇️

scientific article published on November 7, 2003

Deacetylase inhibitors increase muscle cell size by promoting myoblast recruitment and fusion through induction of follistatin

scientific article published on May 2004

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

scientific article

Deficiency of different nitric oxide synthase isoforms activates divergent transcriptional programs in cardiac hypertrophy ⬇️

scientific article published on June 24, 2003

Definition of the unique human extraocular muscle allotype by expression profiling.

scientific article

Deletion of galectin-3 exacerbates microglial activation and accelerates disease progression and demise in a SOD1(G93A) mouse model of amyotrophic lateral sclerosis

scientific article

Delineation of a gene network underlying the pulmonary response to oxidative stress in asthma

scientific article

Development and production of an oligonucleotide MuscleChip: use for validation of ambiguous ESTs

scientific article

Developmental Pharmacodynamics and Modeling in Pediatric Drug Development

scientific article published on 01 September 2019

Differences in fat and muscle mass associated with a functional human polymorphism in a post-transcriptional BMP2 gene regulatory element.

scientific article

Differential dependency network analysis to identify condition-specific topological changes in biological networks

scientific article published on 26 December 2008

Differential gene expression and a functional analysis of PCB-exposed children: understanding disease and disorder development

scientific article published on 8 September 2011

Direct analysis of lipids and small metabolites in mouse brain tissue by AP IR-MALDI and reactive LAESI mass spectrometry

scientific article

Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy within a Natural History Study

scientific article published on 15 April 2016

Discovery of potential urine-accessible metabolite biomarkers associated with muscle disease and corticosteroid response in the mdx mouse model for Duchenne

scientific article published on 16 July 2019

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

scientific article

Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy

scientific article published on 21 August 2019

Disruption of a key ligand-H-bond network drives dissociative properties in vamorolone for Duchenne muscular dystrophy treatment

scientific article published on 11 September 2020

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

scientific article published in August 1988

Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics

scientific article published on July 1989

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

scientific article

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

scientific article published on 02 October 2008

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier

scientific article

Dystrophin and disease ⬇️

scientific article published on January 1, 1991

Dystrophin deficiency causes lethal muscle hypertrophy in cats

scientific article published on 01 July 1992

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

scientific article

Dystrophin distribution in heterozygote MDX mice

scientific article published on 01 October 1989

Dystrophin-deficient cardiomyopathy in mouse: expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart

scientific article published on 25 April 2008

Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis

scientific article published on 01 July 1994

Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

scientific article published on 01 March 1993

Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987

scientific article published on January 1, 1992

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

scientific article (publication date: 24 December 1987)

Dystrophinopathy in isolated cases of myopathy in females

scientific article published on 01 May 1992

Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage

scientific article

Effect of the SORT1 low-density lipoprotein cholesterol locus is sex-specific in a fit, Canadian young-adult population

scientific article published in November 2012

Effects of Chronic, Maximal Phosphorodiamidate Morpholino Oligomer (PMO) Dosing on Muscle Function and Dystrophin Restoration in a Mouse Model of Duchenne Muscular Dystrophy

scientific article published on 21 September 2021

Effects of corticosteroids in the development of limb muscle weakness in a porcine intensive care unit model

scientific article published on 19 February 2013

Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study

scientific article published on 21 September 2020

Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy

scientific article published on 01 March 1994

Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans

scientific article

Elusive sources of variability of dystrophin rescue by exon skipping

scientific article

Endoscopically assisted, ultrasound-guided fetal muscle biopsy

scientific article published on 01 May 1995

Endothelial Nitric Oxide Synthase (NOS3) +894 G>T Associates with Physical Activity and Muscle Performance among Young Adults

article

Enormous dystrophin in a patient with Becker muscular dystrophy

scientific article published in May 1990

Eps homology domain endosomal transport proteins differentially localize to the neuromuscular junction

scientific article published on 13 September 2012

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Evaluation of skeletal and cardiac muscle function after chronic administration of thymosin beta-4 in the dystrophin deficient mouse

scientific article

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

scientific article published on 31 January 2017

Evidence for a Heterozygote Advantage in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1 ⬇️

scientific article published on 01 July 1997

Evolution and comparative genomics of subcellular specializations: EST sequencing of Torpedo electric organ

scientific article

Examination of Lifestyle Behaviors and Cardiometabolic Risk Factors in University Students Enrolled in Kinesiology Degree Programs

scientific article published on 3 February 2015

Exercise training increases electron and substrate shuttling proteins in muscle of overweight men and women with the metabolic syndrome

scientific article published on 3 September 2004

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

scientific article

Exon-skipping therapy: a roadblock, detour, or bump in the road?

scientific article published on April 2014

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

scientific article

Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy

scientific article published on 20 May 2020

Expression of macrophage genes within skeletal muscle correlates inversely with adiposity and insulin resistance in humans.

scientific article published on 16 October 2017

Expression of two temporally distinct microglia-related gene clusters after spinal cord injury

scientific article

Expression profiling and pharmacogenomics of muscle and muscle disease

scientific article

Expression profiling reveals metabolic and structural components of extraocular muscles

scientific article published on 05 March 2002

Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs.

scientific article

Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease)

scientific article published on 01 November 1996

Familial Skewed X Inactivation: A Molecular Trait Associated with High Spontaneous-Abortion Rate Maps to Xq28 ⬇️

scientific article published on July 1, 1997

Feline muscular dystrophy with dystrophin deficiency

scientific article published in November 1989

Fgfr4 is required for effective muscle regeneration in vivo. Delineation of a MyoD-Tead2-Fgfr4 transcriptional pathway

scientific article published on 2 November 2005

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

scientific article

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

scientific article published on 26 August 2010

Functional and molecular effects of arginine butyrate and prednisone on muscle and heart in the mdx mouse model of Duchenne Muscular Dystrophy

scientific article

Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome

scientific article

Functional polymorphisms associated with human muscle size and strength

scientific article published in July 2004

Functional recovery of glycine receptors in spastic murine model of startle disease

scientific article published on 22 September 2005

GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle

scientific article

Gene expression and muscle fiber function in a porcine ICU model

scientific article published on 25 August 2009

Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis

scientific article (publication date: 15 April 2002)

Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo

scientific article

Gene expression profiling of experimental traumatic spinal cord injury as a function of distance from impact site and injury severity

scientific article published on 07 June 2005

Gene profiling in spinal cord injury shows role of cell cycle in neuronal death

scientific article published on 01 April 2003

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

Genetic Variation in Acid Ceramidase Predicts Non-completion of an Exercise Intervention.

scientific article published on 29 June 2018

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

article

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

scientific article published in April 1995

Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs

scientific article published on 11 November 2016

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

scientific article published in December 1997

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

scientific article

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020

Genome-wide identification of significant aberrations in cancer genome.

scientific article

Global gene expression and Ingenuity biological functions analysis on PCBs 153 and 138 induced human PBMC in vitro reveals differential mode(s) of action in developing toxicities

scientific article

Global gene expression profiling in R155H knock-in murine model of VCP disease

scientific article

Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training

scientific article published on 28 January 2016

Glucocorticoid efficacy in asthma: is improved tissue remodeling upstream of anti-inflammation

scientific article published in January 2010

Glucocorticoid-treated mice are an inappropriate positive control for long-term preclinical studies in the mdx mouse

scientific article

Glucose restriction inhibits skeletal myoblast differentiation by activating SIRT1 through AMPK-mediated regulation of Nampt

scientific article published on May 2008

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

scientific article published on 01 April 1999

Herpes simplex virus vector-mediated dystrophin gene transfer and expression in MDX mouse skeletal muscle

scientific article

Highlights from the functional single nucleotide polymorphisms associated with human muscle size and strength or FAMuSS study

scientific article published on 23 December 2013

Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

scientific article

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

scientific article

Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies

scientific article

Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation? ⬇️

scientific article published on 01 March 1995

IGF-II gene region polymorphisms related to exertional muscle damage

scientific article published on 08 February 2007

INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men.

scientific article

Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease

scientific article published on 15 September 2016

Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family

scientific article published on 01 December 1993

Identification of condition-specific regulatory modules through multi-level motif and mRNA expression analysis.

scientific article

Identification of disease specific pathways using in vivo SILAC proteomics in dystrophin deficient mdx mouse.

scientific article published on 7 January 2013

Immune-mediated pathology in Duchenne muscular dystrophy

scientific article published on August 2015

Immunoelectron microscopic localization of dystrophin in myofibres

scientific article published in Nature

Immunopathogenic pathways in canine inflammatory myopathies resemble human myositis

scientific article published on 23 June 2006

Impaired autophagy, chaperone expression, and protein synthesis in response to critical illness interventions in porcine skeletal muscle

scientific article published on 09 April 2013

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

scientific article published on 01 August 1989

In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy

scientific article published on 01 March 1995

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy

scientific article published on 01 September 1991

In vitro analysis of metabolites from the untreated tissue of Torpedo californica electric organ by mid-infrared laser ablation electrospray ionization mass spectrometry

In vivo and in vitro characterization of novel neuronal plasticity factors identified following spinal cord injury

scientific article

In vivo filtering of in vitro expression data reveals MyoD targets

scientific article

In vivo multi-tissue corticosteroid microarray time series available online at Public Expression Profile Resource (PEPR).

scientific article

In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4

scientific article published on January 1, 1995

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

scientific article

Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle

scientific article

Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy

scientific article published on 16 October 2019

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

scientific article

Integrated genomics and proteomics of the Torpedo californica electric organ: concordance with the mammalian neuromuscular junction

scientific article

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

scientific article published on June 2002

Intelligent DNA-based molecular diagnostics using linked genetic markers

scientific article published on 01 January 1994

Interactively optimizing signal-to-noise ratios in expression profiling: project-specific algorithm selection and detection p-value weighting in Affymetrix microarrays

scientific article published on 29 April 2004

Interleukin-15 and interleukin-15R alpha SNPs and associations with muscle, bone, and predictors of the metabolic syndrome

scientific article published on 02 June 2008

Intracellular expression profiling by laser capture microdissection: three novel components of the neuromuscular junction

scientific article

Investigation of gene expression in C(2)C(12) myotubes following simvastatin application and mechanical strain

scientific article

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy ⬇️

scientific article published on October 1, 1991

KDDN: an open-source Cytoscape app for constructing differential dependency networks with significant rewiring

scientific article

Knowledge-fused differential dependency network models for detecting significant rewiring in biological networks ⬇️

scientific article

Knowledge-guided gene ranking by coordinative component analysis

scientific article

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

scientific article

Laminopathies disrupt epigenomic developmental programs and cell fate

scientific article published on April 2016

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

scientific article published in April 2004

Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy

scientific article published on 26 May 2015

Latent variable and nICA modeling of pathway gene module composite.

scientific article

Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training.

scientific article

Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene

scientific article published on January 1, 1992

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

scientific article published on 22 November 2017

Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice

scientific article

Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.

scientific article published on 10 January 2006

MC4R variant is associated with BMI but not response to resistance training in young females.

scientific article

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

scientific article published on 01 May 2001

Mathematical modeling of corticosteroid pharmacogenomics in rat muscle following acute and chronic methylprednisolone dosing

scientific article

Mathematical modelling of transcriptional heterogeneity identifies novel markers and subpopulations in complex tissues

scientific article

MeCP2 mutations in children with and without the phenotype of Rett syndrome

scientific article published on 01 June 2001

Mechanisms underlying the sparing of masticatory versus limb muscle function in an experimental critical illness model

scientific article published on 18 October 2011

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies ⬇️

scientific article published on May 1, 1995

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit

scientific article published on 27 August 2018

Membrane sealant Poloxamer P188 protects against isoproterenol induced cardiomyopathy in dystrophin deficient mice

scientific article

Metabolic remodeling agents show beneficial effects in the dystrophin-deficient mdx mouse model

scientific article

Metabolite signatures of exercise training in human skeletal muscle relate to mitochondrial remodelling and cardiometabolic fitness

scientific article

MicroRNA Profiling in Adipose Before and After Weight Loss Highlights the Role of miR-223-3p and the NLRP3 Inflammasome

scientific article published on 01 March 2020

Microarray analysis of the temporal response of skeletal muscle to methylprednisolone: comparative analysis of two dosing regimens

scientific article

Microarray analysis reveals novel features of the muscle aging process in men and women

scientific article published on 15 February 2013

Mitotic asynchrony induces transforming growth factor-β1 secretion from airway epithelium

scientific article

Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy

Molecular responses of human muscle to eccentric exercise

scientific article

Morpholino-induced exon skipping stimulates cell-mediated and humoral responses to dystrophin in mdx mice

scientific article published on 16 April 2019

Motif-guided sparse decomposition of gene expression data for regulatory module identification

scientific article

Multi-omic integrated networks connect DNA methylation and miRNA with skeletal muscle plasticity to chronic exercise in Type 2 diabetic obesity

scientific article

Multilevel support vector regression analysis to identify condition-specific regulatory networks

scientific article

Muscle histology in becker muscular dystrophy ⬇️

scientific article published on 01 November 1991

Muscle miRNAome shows suppression of chronic inflammatory miRNAs with both prednisone and vamorolone

scientific article published on 08 June 2018

Muscle myeloid type I interferon gene expression may predict therapeutic responses to rituximab in myositis patients

scientific article

Muscle weakness in myositis: microRNAs mediate dystrophin reduction in MHC class I transgenic mouse model and human muscle biopsies

scientific article published on 03 February 2020

Musculin isoforms and repression of MyoD in muscle regeneration

scientific article published on 17 February 2006

Mutations in the integrin alpha7 gene cause congenital myopathy

scientific article

Mutations in the sarcoglycan genes in patients with myopathy

scientific article

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

scientific article

MyoD acetylation influences temporal patterns of skeletal muscle gene expression.

scientific article published on 27 October 2007

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

scientific article published on 16 October 2017

Myostatin and follistatin polymorphisms interact with muscle phenotypes and ethnicity

scientific article (publication date: May 2009)

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

scientific article published on 01 October 1996

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

article

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

scientific article

NKG2A and CD56 are coexpressed on activated TH2 but not TH1 lymphocytes

scientific article published on December 2005

NKG2A inhibits TH2 cell effector function in vitro

scientific article

Natural progression of childhood asthma symptoms and strong influence of sex and puberty.

scientific article

Neck and waist circumference biomarkers of cardiovascular risk in a cohort of predominantly African-American college students: a preliminary study.

scientific article

Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS)

Neuronal plasticity after spinal cord injury: identification of a gene cluster driving neurite outgrowth

article

New molecular research technologies in the study of muscle disease.

scientific article published on November 2003

Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits

scientific article

Non-invasive optical imaging of muscle pathology in mdx mice using cathepsin caged near-infrared imaging

scientific article

Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales.

scientific article published in September 2005

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

scientific article published in November 2002

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy

scientific article published on November 2012

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

scientific article published on 16 September 2020

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

scientific article published on 14 February 2006

OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages.

scientific article published on 25 July 2016

Obesity-Related Genetic Variants and their Associations with Physical Activity

scientific article

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome.

scientific article published in August 2003

Optimized multilayer perceptrons for molecular classification and diagnosis using genomic data.

scientific article

Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies

scientific article

Orthogonal analysis of dystrophin protein and mRNA as a surrogate outcome for drug development

scientific article published on 05 August 2019

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

scientific article published on 26 July 2017

PCB congener specific oxidative stress response by microarray analysis using human liver cell line.

scientific article

PCB exposure and potential future cancer incidence in Slovak children: an assessment from molecular finger printing by Ingenuity Pathway Analysis (IPA®) derived from experimental and epidemiological investigations

scientific article published on 15 November 2017

PPARalpha L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males

scientific article

PUGSVM: a caBIG™ analytical tool for multiclass gene selection and predictive classification

scientific article

Patterns of global gene expression in rat skeletal muscle during unloading and low-intensity ambulatory activity.

scientific article

Pharmacodynamic/pharmacogenomic modeling of insulin resistance genes in rat muscle after methylprednisolone treatment: exploring regulatory signaling cascades

scientific article published on 23 April 2008

Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials

scientific article

Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes.

scientific article published on 7 March 2018

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

scientific article published on 13 September 2018

Phenotypic-specific gene module discovery using a diagnostic tree and caBIG VISDA.

scientific article

Phospholipase A2 activity in dystrophinopathies

scientific article published on 01 May 1995

Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy

scientific article published on 01 August 1998

Plasma membrane cytoskeleton of muscle: a fine structural analysis

scientific article

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy

scientific article published on 11 February 2019

Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures

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Predicting age at loss of ambulation in Duchenne muscular dystrophy with deep phenotypic measures

Prednisolone-induced changes in dystrophic skeletal muscle

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Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

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Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy

scientific article published on 01 July 1999

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

scientific article

Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy

scientific article (publication date: 2000)

Probe set algorithms: is there a rational best bet?

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Progression of volume load and muscular adaptation during resistance exercise

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Proteolytic fragment or new gene product?

scientific article published in Nature

Proteome analysis of skeletal muscle from obese and morbidly obese women

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Proteomic profiling of glucocorticoid-exposed myogenic cells: Time series assessment of protein translocation and transcription of inactive mRNAs

scientific article published on 30 July 2009

Proteomics and systems biology in exercise and sport sciences research

scientific article published on January 2007

Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes

scientific article published in December 2016

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

scientific article published on April 1997

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization

scientific article published in May 2003

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

scientific article

Recent advances in dystrophin research ⬇️

scientific article published on October 1, 1991

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

scientific article

Recruitment of mast cells to muscle after mild damage

scientific article published on 01 January 1996

Regenerated mdx mouse skeletal muscle shows differential mRNA expression

scientific article

Relationships between circadian rhythms and modulation of gene expression by glucocorticoids in skeletal muscle

scientific article published on 30 July 2008

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

scientific article published on 01 January 2019

Resistance exercise training influences skeletal muscle immune activation: a microarray analysis

scientific article published on 3 November 2011

Resistin polymorphisms are associated with muscle, bone, and fat phenotypes in white men and women

scientific article

Response of rat muscle to acute resistance exercise defined by transcriptional and translational profiling.

scientific article

Response to Comment on Sprouse et al. SLC30A8 nonsynonymous variant is associated with recovery following exercise and skeletal muscle size and strength. Diabetes 2014;63:363-368.

scientific article published in May 2014

Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through

scientific article

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

scientific article published in November 1998

Rhinovirus infection in young children is associated with elevated airway TSLP levels.

scientific article

Role of sepsis in the development of limb muscle weakness in a porcine intensive care unit model

scientific article

SLC30A8 nonsynonymous variant is associated with recovery following exercise and skeletal muscle size and strength

scientific article published on 7 October 2013

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

scientific article

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment

scientific article published on 01 November 2011

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial

scientific article published on 26 May 2020

Secreted proteome profiling in human RPE cell cultures derived from donors with age related macular degeneration and age matched healthy donors.

scientific article

Selection and use of ligands for receptor-mediated gene delivery to myogenic cells

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Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy

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Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

scientific article

Sepsis alters the megakaryocyte-platelet transcriptional axis resulting in granzyme B-mediated lymphotoxicity.

scientific article published on 08 January 2009

Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q

scientific article (publication date: 31 January 1992)

Serum biomarkers associated with baseline clinical severity in young steroid-naive Duchenne muscular dystrophy boys

scientific article published on 27 June 2020

Serum biomarkers of glucocorticoid response and safety in anti-neutrophil cytoplasmic antibody-associated vasculitis and juvenile dermatomyositis

scientific article published on 21 October 2018

Serum pharmacodynamic biomarkers for chronic corticosteroid treatment of children

scientific article published on 17 August 2016

Sexual dimorphism in immune response genes as a function of puberty

scientific article

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

scientific article

Skeletal muscle dictates the fibrinolytic state after exercise training in overweight men with characteristics of metabolic syndrome

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Skeletal muscle gene expression in response to resistance exercise: sex specific regulation

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Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

scientific article

Slug is a novel downstream target of MyoD. Temporal profiling in muscle regeneration

scientific article published on 21 May 2002

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

scientific article published on 9 March 2016

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms

article

Somatic reversion/suppression of the mouse mdx phenotype in vivo.

scientific article published in October 1990

Sources of variability and effect of experimental approach on expression profiling data interpretation

scientific article

Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs

scientific article

Sparse Decomposition of Gene Expression Data to Infer Transcriptional Modules Guided by Motif Information

article

Status of LEPR Gene in PCB-exposed Population: A Quick Look.

scientific article published on March 2013

Subcutaneous fat alterations resulting from an upper-body resistance training program.

scientific article

Systems Biology Through Time Series Data-A Strength of Muscle Remodeling

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

scientific article published on 02 January 2020

TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle

scientific article

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

scientific article published on 26 August 2015

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.

scientific article published on June 2011

The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults

scientific article published on 24 June 2015

The PEPR GeneChip data warehouse, and implementation of a dynamic time series query tool (SGQT) with graphical interface

scientific article

The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation

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The clinical spectrum of sarcoglycanopathies

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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

scientific article

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 an

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The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene

scientific article published on 01 July 2020

The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.

scientific article

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population ⬇️

scientific article published on 01 September 1991

The genetics of muscle atrophy and growth: the impact and implications of polymorphisms in animals and humans

scientific article

The genomic structure of the human skeletal muscle sodium channel gene

scientific article (publication date: October 1992)

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

scientific article

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

scientific article published in Nature

The muscle strength and size response to upper arm, unilateral resistance training among adults who are overweight and obese

scientific article published in May 2007

The paradox of muscle hypertrophy in muscular dystrophy.

scientific article published on February 2012

The proteome survey of an electricity-generating organ (Torpedo californica electric organ).

scientific article

The proton pump inhibitor lansoprazole improves the skeletal phenotype in dystrophin deficient mdx mice

scientific article

The rumpshaker mutation in spastic paraplegia ⬇️

scientific article published on 01 July 1994

The use of urinary and kidney SILAM proteomics to monitor kidney response to high dose morpholino oligonucleotides in the mdx mouse

scientific article published in January 2015

Time series proteome profiling to study endoplasmic reticulum stress response.

scientific article

Tissue-specific alternative splicing of TCF7L2.

scientific article published on 14 July 2009

Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy

scientific article published in October 1994

Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods

scientific article published on May 1995

Transcriptional deficits in oxidative phosphorylation with statin myopathy

scientific article published on 01 September 2011

Transcriptional profiling and biological pathway analysis of human equivalence PCB exposure in vitro: indicator of disease and disorder development in humans

scientific article published on 27 February 2015

Translating mighty mice into neuromuscular therapeutics: is bigger muscle better?

scientific article

Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages

scientific article published on 7 August 2015

VBP15, a glucocorticoid analogue, is effective at reducing allergic lung inflammation in mice

scientific article

VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects

scientific article

VBP15, a novel anti-inflammatory, is effective at reducing the severity of murine experimental autoimmune encephalomyelitis.

scientific article published on 13 November 2014

VBP15: preclinical characterization of a novel anti-inflammatory delta 9,11 steroid

scientific article

Vamorolone targets dual nuclear receptors to treat inflammation and dystrophic cardiomyopathy

scientific article published on 11 February 2019

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

scientific article published on 26 August 2019

Variability in muscle size and strength gain after unilateral resistance training.

scientific article

Variants of the ankyrin repeat domain 6 gene (ANKRD6) and muscle and physical activity phenotypes among European-derived American adults.

scientific article

Vascular remodeling in response to 12 wk of upper arm unilateral resistance training

scientific article

Viral gene delivery to skeletal muscle: insights on maturation-dependent loss of fiber infectivity for adenovirus and herpes simplex type 1 viral vectors

scientific article published on March 1997

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

scientific article published on 01 February 1996

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

scientific article

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

scientific article published on 01 September 1996

caBIG VISDA: modeling, visualization, and discovery for cluster analysis of genomic data

scientific article

Δ-9,11 modification of glucocorticoids dissociates nuclear factor-κB inhibitory efficacy from glucocorticoid response element-associated side effects.

scientific article

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