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View article: Fight song: variation in singing behaviour and song structure during natural agonistic interactions in a tropical songbird, Adelaide's Warbler ( <i>Setophaga adelaidae</i> )
Fight song: variation in singing behaviour and song structure during natural agonistic interactions in a tropical songbird, Adelaide's Warbler ( <i>Setophaga adelaidae</i> ) Open
Birds may use their singing behaviours and song structure as agonistic signals in territorial encounters. We conducted an observational study to test this hypothesis in male Adelaide's Warblers Setophaga adelaidae , a tropical songbird tha…
View article: Modeling of Dysferlinopathy (LGMDR2) Progression
Modeling of Dysferlinopathy (LGMDR2) Progression Open
In conclusion, this study provides a better understanding of skeletal muscle fat replacement progression in the lower limb muscles of patients with LGMDR2, highlighting the influence of age at symptom onset, sex, and baseline motor functio…
View article: Different Patterns of Autoantibody Secretion by Peripheral Blood Mononuclear Cells in Autoimmune Nodopathies
Different Patterns of Autoantibody Secretion by Peripheral Blood Mononuclear Cells in Autoimmune Nodopathies Open
Our data suggest that different B-cell responses may occur in autoimmune nodopathies and may serve as markers of courses of disease and response to rituximab.
View article: Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis Open
Neurological Motor Disorders
View article: Strengthening inclusion opportunities for women with a migration background with digital learning
Strengthening inclusion opportunities for women with a migration background with digital learning Open
View article: Inclusion body myositis—health-related quality of life and care situation during phases of the “patience journey” in Germany: results from a qualitative study
Inclusion body myositis—health-related quality of life and care situation during phases of the “patience journey” in Germany: results from a qualitative study Open
View article: Skeletal muscle fibers produce B-cell stimulatory factors in chronic myositis
Skeletal muscle fibers produce B-cell stimulatory factors in chronic myositis Open
Introduction We aimed to identify B-cell-mediated immunomechanisms in inclusion body myositis (IBM) and polymyositis (PM) as part of the complex pathophysiology. Materials and methods Human primary myotube cultures were derived from orthop…
View article: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis Open
View article: Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy
Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy Open
Duchenne muscular dystrophy (DMD) is the most frequent genetic myopathy in childhood and leads to progressive muscle atrophy, weakness, and premature death. So far, there is no curative treatment available. Therapeutic development from ben…
View article: FYCO1 Increase and Effect of Arimoclomol–Treatment in Human VCP–Pathology
FYCO1 Increase and Effect of Arimoclomol–Treatment in Human VCP–Pathology Open
Dominant VCP–mutations cause a variety of neurological manifestations including inclusion body myopathy with early–onset Paget disease and frontotemporal dementia 1 (IBMPFD). VCP encodes a ubiquitously expressed multifunctional protein tha…
View article: The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review
The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review Open
View article: Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis Open
View article: Additional file 2 of The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review
Additional file 2 of The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review Open
Additional file 2. Qualitative evidence profiles.xlsx. Summaries of review findings and ratings of the qualitative studies according to GRADE CERQual.
View article: A scalable, clinically severe pig model for Duchenne muscular dystrophy
A scalable, clinically severe pig model for Duchenne muscular dystrophy Open
Large-animal models for Duchenne muscular dystrophy (DMD) are crucial for the evaluation of diagnostic procedures and treatment strategies. Pigs cloned from male cells lacking DMD exon 52 (DMDΔ52) exhibit molecular, clinical and pathologic…
View article: A scalable, clinically severe pig model for Duchenne muscular dystrophy
A scalable, clinically severe pig model for Duchenne muscular dystrophy Open
Large animal models for Duchenne muscular dystrophy (DMD) are crucial for preclinical evaluation of novel diagnostic procedures and treatment strategies. Pigs cloned from male cells lacking DMD exon 52 ( DMD Δ52) resemble molecular, clinic…
View article: Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia Open
View article: Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
Delivery of oligonucleotide‐based therapeutics: challenges and opportunities Open
View article: Expanding the clinical and molecular spectrum of <scp><i>ATP6V1A</i></scp> related metabolic cutis laxa
Expanding the clinical and molecular spectrum of <span><i>ATP6V1A</i></span> related metabolic cutis laxa Open
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v‐ATPase components or the mitochondrial…
View article: Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy
Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy Open
View article: Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells Open
Dysferlinopathies encompass a spectrum of progressive muscular dystrophies caused by the lack of dysferlin due to missense mutations in the dysferlin gene or mutations causing premature truncation of protein translation. Dysferlin is a mod…
View article: Assessment of disease progression in dysferlinopathy
Assessment of disease progression in dysferlinopathy Open
NCT01676077.
View article: Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Open
Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large ima…
View article: Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Open
Dysferlinopathy, an autosomal recessive muscular dystrophy caused by DYSF mutations, demonstrates a variable phenotype and progression rate, with symptom onset ranging from first to eighth decade and some patients requiring wheelchairs for…
View article: Quantification of Transcripts for Immunoproteasome Subunits PSMB8 and PSMB9 Discriminates Inflammatory from Non-Inflammatory Myopathies
Quantification of Transcripts for Immunoproteasome Subunits PSMB8 and PSMB9 Discriminates Inflammatory from Non-Inflammatory Myopathies Open
Objectives: Idiopathic inflammatory myopathies (IIM) are a group of muscle diseases characterized by inflammatory infiltrates in skeletal muscle.Associated pathways include increased antigen presentation with tissue specific inflammatory s…
View article: The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.
The multifaceted clinical presentation of VCP-proteinopathy in a Greek family. Open
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness…
View article: Corrigendum to ‘Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient’ [Neuromuscular Disorders 27 (2017) 856–860]
Corrigendum to ‘Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient’ [Neuromuscular Disorders 27 (2017) 856–860] Open
View article: Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy Open
View article: Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells
Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells Open
This is the largest dataset revealing the impact of TNF-α or IGF1 treatment on gene expression kinetics of early in vitro skeletal myoblast differentiation. We identified novel mRNAs, which have not yet been associated with skeletal muscle…
View article: Integrative Analysis of MicroRNA and mRNA Data Reveals an Orchestrated Function of MicroRNAs in Skeletal Myocyte Differentiation in Response to TNF-α or IGF1
Integrative Analysis of MicroRNA and mRNA Data Reveals an Orchestrated Function of MicroRNAs in Skeletal Myocyte Differentiation in Response to TNF-α or IGF1 Open
Joint analysis of mRNA and miRNA profiling data increased the process-specificity and quality of predicted relations by statistically selecting miRNA-target interactions. Moreover, this study revealed miRNA-specific predominant biological …
View article: Insights into Muscle Degeneration from Heritable Inclusion Body Myopathies
Insights into Muscle Degeneration from Heritable Inclusion Body Myopathies Open
Muscle mass and function are gradually lost in age-related, degenerative neuromuscular disorders, which also reflect the clinical hallmarks of sarcopenia. The consensus definition of sarcopenia includes a condition of age-related loss of m…