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

2017

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Nature genetics, 1999-03, Vol.21 (3), p.285-288

1999

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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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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2000-04, Vol.66 (4), p.1407-1412

2000

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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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Paternal germline mosaicism in collagen VI related myopathies

European journal of paediatric neurology, 2015-09, Vol.19 (5), p.533-536

2015

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Improving clinical trial design for Duchenne muscular dystrophy

BMC neurology, 2015-08, Vol.15 (1), p.153-153, Article 153

2015

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Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach

2015

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Cyclosporine A in Ullrich Congenital Muscular Dystrophy : Long-Term Results

Oxidative medicine and cellular longevity, 2011-01, Vol.2011 (2011), p.1-10

2011

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Measuring muscle strength in clinical trials

Lancet neurology, 2010-12, Vol.9 (12), p.1146-1146

Merlini, Luciano

2010

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Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

TheScientificWorld, 2013-01, Vol.2013 (2013), p.1-6

2013

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Autoimmunity in intervertebral disc herniation: from bench to bedside

Expert opinion on therapeutic targets, 2013-12, Vol.17 (12), p.1461-1470

2013

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Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

Pharmacological research, 2017-11, Vol.125 (Pt B), p.122-131

2017

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Laminopathies: from the heart of the cell to the clinics

Current opinion in neurology, 2004-10, Vol.17 (5), p.553-560

2004

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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

BMC medical genetics, 2010-03, Vol.11 (1), p.44-44, Article 44

2010

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Early prednisone treatment in Duchenne muscular dystrophy

Muscle & nerve, 2003-02, Vol.27 (2), p.222-227

2003

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

Nature medicine, 2010-11, Vol.16 (11), p.1313-1320

2010

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Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2

Muscle & nerve, 2005-06, Vol.31 (6), p.764-767

2005

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New Clinical and Immunofluoresence 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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Duchenne Muscular Dystrophy Gene Therapy

Current gene therapy, 2024-01, Vol.24 (1), p.17-28

2024

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Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Matrix biology, 2001-11, Vol.20 (7), p.475-486

2001

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108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2003-08, Vol.13 (6), p.508-515

2003

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Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy

International journal of environmental research and public health, 2022-01, Vol.19 (3), p.1252

2022

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Fixation of Winged Scapula in Facioscapulohumeral Muscular Dystrophy

Clinical medicine & research, 2007-10, Vol.5 (3), p.155-162

2007

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

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

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

Paternal germline mosaicism in collagen VI related myopathies

Improving clinical trial design for Duchenne muscular dystrophy

Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach

Cyclosporine A in Ullrich Congenital Muscular Dystrophy : Long-Term Results

Measuring muscle strength in clinical trials

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Autoimmunity in intervertebral disc herniation: from bench to bedside

Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

Laminopathies: from the heart of the cell to the clinics

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Early prednisone treatment in Duchenne muscular dystrophy

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

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2

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

Duchenne Muscular Dystrophy Gene Therapy

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy

Fixation of Winged Scapula in Facioscapulohumeral Muscular Dystrophy

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