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Collagen VI in the Musculoskeletal System

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5095

2023

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New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients

International journal of molecular sciences, 2023-08, Vol.24 (15), p.12474

2023

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Central sensitization in chronic low back pain: A narrative review

Journal of back and musculoskeletal rehabilitation, 2016-11, Vol.29 (4), p.625

2016

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Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures

International journal of molecular sciences, 2024-07, Vol.25 (13), p.7118

2024

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Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

Stem cell research & therapy, 2020-11, Vol.11 (1), p.463-463, Article 463

2020

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201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

Neuromuscular disorders : NMD, 2014-06, Vol.24 (6), p.546-561

2014

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Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

International journal of molecular sciences, 2023-04, Vol.24 (7), p.6678

2023

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Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

Journal of neurology, 2015-12, Vol.262 (12), p.2684-2690

2015

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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Frontiers in genetics, 2020-03, Vol.11, p.131-131

2020

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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

Proceedings of the National Academy of Sciences - PNAS, 2008-04, Vol.105 (13), p.5225-5229

2008

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Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)

Neurotherapeutics, 2008-10, Vol.5 (4), p.613-618

2008

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Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Autophagy, 2016-12, Vol.12 (12), p.2484-2495

2016

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Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

Proceedings of the National Academy of Sciences - PNAS, 2007-01, Vol.104 (3), p.991-996

2007

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Alpha-lipoic Acid After Median Nerve Decompression at the Carpal Tunnel: A Randomized Controlled Trial

The Journal of hand surgery (American ed.), 2017-04, Vol.42 (4), p.236-242

2017

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

Cells (Basel, Switzerland), 2024-02, Vol.13 (5), p.378

2024

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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

American journal of human genetics, 2002-11, Vol.71 (5), p.1033-1043

2002

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Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

Cells (Basel, Switzerland), 2020-02, Vol.9 (2), p.409

2020

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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Skeletal muscle, 2019-05, Vol.9 (1), p.14-14, Article 14

2019

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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Acta neuropathologica communications, 2023-03, Vol.11 (1), p.48-48, Article 48

2023

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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

BMC genomics, 2008-11, Vol.9 (1), p.572-572, Article 572

2008

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Muscle-Tendon-Innervation Unit: Degeneration and Aging - Pathophysiological and Regeneration Mechanisms

2017

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Reliability of hand-held dynamometry in spinal muscular atrophy

Muscle & nerve, 2002-07, Vol.26 (1), p.64-70

2002

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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

BMC medical genetics, 2012-08, Vol.13 (1), p.73-73, Article 73

2012

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A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroids

Neuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.417-418

Merlini, Luciano

2014

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Collagen VI in the Musculoskeletal System

New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients

Central sensitization in chronic low back pain: A narrative review

Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

Alpha-lipoic Acid After Median Nerve Decompression at the Carpal Tunnel: A Randomized Controlled Trial

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Muscle-Tendon-Innervation Unit: Degeneration and Aging - Pathophysiological and Regeneration Mechanisms

Reliability of hand-held dynamometry in spinal muscular atrophy

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroids

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