Carmelo Rodolico | University of Messina (original) (raw)

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Papers by Carmelo Rodolico

Research paper thumbnail of Axial myopathy in myasthenia: A misleading cause of dropped head

Muscle & Nerve, 2004

... Letters to the Editor. Axial myopathy in myasthenia: A misleading cause of dropped head. Carm... more ... Letters to the Editor. Axial myopathy in myasthenia: A misleading cause of dropped head. Carmelo Rodolico MD 1 ,; Sonia Messina MD 1 ,; Antonio Toscano MD 1 ,; Giuseppe Vita MD 1 ,; Michele Gaeta MD 2. Article first published online: 10 DEC 2003. DOI: 10.1002/mus.10543. ...

Research paper thumbnail of Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene

Research paper thumbnail of Myasthenia gravis after etanercept and ustekinumab treatment for psoriatic arthritis: a case report

Research paper thumbnail of Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

Research paper thumbnail of Hippo signaling pathway is altered in Duchenne muscular dystrophy

Research paper thumbnail of La miopatia ipotiroidea

Research paper thumbnail of Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

Research paper thumbnail of Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Research paper thumbnail of Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes

Nucleus (Austin, Tex.), Jan 25, 2018

Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 an... more Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients. Levels of TGF β2 are also increased in fibroblast and myoblast cultures established from patient biopsies as well as in serum from mice bearing the H222P Lmna mutation causing Emery-Dreifuss muscular dystrophy in humans. Both patient serum and fibroblast c...

Research paper thumbnail of Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study

Frontiers in Pharmacology

Research paper thumbnail of Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

PloS one, 2017

Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy, often accompanied... more Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy, often accompanied by impairments in attention, memory, visuospatial and executive functions. Given that DM1 is a multi-system disorder, it requires a multi-disciplinary approach, including effective rehabilitation programs, focusing on the central nervous system neuroplasticity, in order to develop patient-tailored rehabilitative procedures for motor function recovery. Herein, we performed a transcranial magnetic stimulation (TMS) study aimed at investigating central motor conduction time, sensory-motor plasticity, and cortical excitability in 7 genetically defined DM1 patients. As compared to healthy individuals, DM1 patients showed a delayed central motor conduction time and an abnormal sensory-motor plasticity, with no alteration of cortical excitability. These findings may be useful to define patient-tailored motor rehabilitative programs.

Research paper thumbnail of Advances in assessing myotonia: Can sensor-engineered glove have a role?

Journal of the Neurological Sciences, 2017

Research paper thumbnail of Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease

Neuromuscular Disorders, 2016

Research paper thumbnail of Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls

Journal of Neuromuscular Diseases, 2016

Research paper thumbnail of A FAMILY WITH AUTOSOMAL DOMINANT MUTILATING NEUROPATHY NOT LINKED TO EITHER 3q13-q22 OR 9q22 LOCI

J Peripher Nerv Syst, 2000

Research paper thumbnail of Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification--a feasibility study

Research paper thumbnail of The genetic basis of undiagnosed muscular dystrophies and myopathies

Research paper thumbnail of Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature

Reviews in Endocrine and Metabolic Disorders, 2016

Research paper thumbnail of A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Journal of Neurology, 2016

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

Journal of cell science, Jan 15, 2016

Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 gene... more Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in bothCol6a1(-/-)mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly,Bmal1(-/-)(also known asArntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related gen...

Research paper thumbnail of Axial myopathy in myasthenia: A misleading cause of dropped head

Muscle & Nerve, 2004

... Letters to the Editor. Axial myopathy in myasthenia: A misleading cause of dropped head. Carm... more ... Letters to the Editor. Axial myopathy in myasthenia: A misleading cause of dropped head. Carmelo Rodolico MD 1 ,; Sonia Messina MD 1 ,; Antonio Toscano MD 1 ,; Giuseppe Vita MD 1 ,; Michele Gaeta MD 2. Article first published online: 10 DEC 2003. DOI: 10.1002/mus.10543. ...

Research paper thumbnail of Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene

Research paper thumbnail of Myasthenia gravis after etanercept and ustekinumab treatment for psoriatic arthritis: a case report

Research paper thumbnail of Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

Research paper thumbnail of Hippo signaling pathway is altered in Duchenne muscular dystrophy

Research paper thumbnail of La miopatia ipotiroidea

Research paper thumbnail of Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

Research paper thumbnail of Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Research paper thumbnail of Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes

Nucleus (Austin, Tex.), Jan 25, 2018

Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 an... more Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients. Levels of TGF β2 are also increased in fibroblast and myoblast cultures established from patient biopsies as well as in serum from mice bearing the H222P Lmna mutation causing Emery-Dreifuss muscular dystrophy in humans. Both patient serum and fibroblast c...

Research paper thumbnail of Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study

Frontiers in Pharmacology

Research paper thumbnail of Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

PloS one, 2017

Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy, often accompanied... more Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy, often accompanied by impairments in attention, memory, visuospatial and executive functions. Given that DM1 is a multi-system disorder, it requires a multi-disciplinary approach, including effective rehabilitation programs, focusing on the central nervous system neuroplasticity, in order to develop patient-tailored rehabilitative procedures for motor function recovery. Herein, we performed a transcranial magnetic stimulation (TMS) study aimed at investigating central motor conduction time, sensory-motor plasticity, and cortical excitability in 7 genetically defined DM1 patients. As compared to healthy individuals, DM1 patients showed a delayed central motor conduction time and an abnormal sensory-motor plasticity, with no alteration of cortical excitability. These findings may be useful to define patient-tailored motor rehabilitative programs.

Research paper thumbnail of Advances in assessing myotonia: Can sensor-engineered glove have a role?

Journal of the Neurological Sciences, 2017

Research paper thumbnail of Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease

Neuromuscular Disorders, 2016

Research paper thumbnail of Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls

Journal of Neuromuscular Diseases, 2016

Research paper thumbnail of A FAMILY WITH AUTOSOMAL DOMINANT MUTILATING NEUROPATHY NOT LINKED TO EITHER 3q13-q22 OR 9q22 LOCI

J Peripher Nerv Syst, 2000

Research paper thumbnail of Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification--a feasibility study

Research paper thumbnail of The genetic basis of undiagnosed muscular dystrophies and myopathies

Research paper thumbnail of Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature

Reviews in Endocrine and Metabolic Disorders, 2016

Research paper thumbnail of A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Journal of Neurology, 2016

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

Journal of cell science, Jan 15, 2016

Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 gene... more Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in bothCol6a1(-/-)mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly,Bmal1(-/-)(also known asArntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related gen...

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