Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Brain and muscle Arnt-like 1 promotes skeletal muscle regeneration through satellite cell expansion

(2015) Somik Chatterjee et al.   EXPERIMENTAL CELL RESEARCH

The endogenous molecular clock orchestrates the temporal separation of substrate metabolism in skeletal muscle

(2015) Brian A Hodge et al.   Skeletal Muscle

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

(2014) F. Tagliavini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biomarkers in rare neuromuscular diseases

(2014) Chiara Scotton et al.   EXPERIMENTAL CELL RESEARCH

Rho-actin signaling to the MRTF coactivators dominates the immediate transcriptional response to serum in fibroblasts

(2014) C. Esnault et al.   GENES & DEVELOPMENT

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

(2014) Sherry Dadgar et al.   JOURNAL OF CELL BIOLOGY

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

(2014) Sara De Palma et al.   JOURNAL OF PROTEOME RESEARCH

Biomarkers in Rare Diseases

(2014) A. Ferlini et al.   Public Health Genomics

Circadian Rhythms, Skeletal Muscle Molecular Clocks, and Exercise

(2013) Elizabeth A. Schroder et al.   EXERCISE AND SPORT SCIENCES REVIEWS

Development of the diaphragm - a skeletal muscle essential for mammalian respiration

(2013) Allyson J. Merrell et al.   FEBS Journal

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

(2013) D. Hicks et al.   HUMAN MOLECULAR GENETICS

Whole genome profiling and other high throughput technologies in lymphoid neoplasms—current contributions and future hopes

(2013) Elías Campo   MODERN PATHOLOGY

194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8–10 December 2012, Naarden, The Netherlands

(2013) Annemieke Aartsma-Rus et al.   NEUROMUSCULAR DISORDERS

Changes in Muscle Cell Metabolism and Mechanotransduction Are Associated with Myopathic Phenotype in a Mouse Model of Collagen VI Deficiency

(2013) Sara De Palma et al.   PLoS One

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

(2013) Sonia Paco et al.   PLoS One

Collagen VI regulates satellite cell self-renewal and muscle regeneration

(2013) Anna Urciuolo et al.   Nature Communications

Muscle insulin sensitivity and glucose metabolism are controlled by the intrinsic muscle clock

(2013) Kenneth A. Dyar et al.   Molecular Metabolism

Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

(2012) Francesca Gualandi et al.   HUMAN GENE THERAPY

Evaluating the links between schizophrenia and sleep and circadian rhythm disruption

(2012) David Pritchett et al.   JOURNAL OF NEURAL TRANSMISSION

Transcriptomics: mRNA and alternative splicing

(2012) Alex Sánchez-Pla et al.   JOURNAL OF NEUROIMMUNOLOGY

Scheduled Exercise Phase Shifts the Circadian Clock in Skeletal Muscle

(2012) GRETCHEN WOLFF et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

A non-canonical E-box within the MyoD core enhancer is necessary for circadian expression in skeletal muscle

(2012) Xiping Zhang et al.   NUCLEIC ACIDS RESEARCH

RNA-based markers as prognostic factors in chronic lymphocytic leukemia

(2012) Marie Sevov et al.   Expert Review of Hematology

Autophagy in Skeletal Muscle Homeostasis and in Muscular Dystrophies

(2012) Paolo Grumati et al.   Cells

Autophagy induction rescues muscular dystrophy

(2011) Paolo Grumati et al.   Autophagy

Type VI collagen deficiency induces osteopenia with distortion of osteoblastic cell morphology

(2011) Yayoi Izu et al.   TISSUE & CELL

ColVI myopathies: where do we stand, where do we go?

(2011) Valérie Allamand et al.   Skeletal Muscle

Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies

(2010) Paolo Bernardi et al.   Annals of the New York Academy of Sciences

Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice

(2010) Yayoi Izu et al.   MATRIX BIOLOGY

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

CLOCK and BMAL1 regulate MyoD and are necessary for maintenance of skeletal muscle phenotype and function

(2010) J. L. Andrews et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

(2008) Joachim Schessl et al.   MUSCLE & NERVE

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY