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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, 2024-06, 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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Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up

Muscle & nerve, 2012-06, Vol.45 (6), p.796-802

2012

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

2015

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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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Early prednisone treatment in Duchenne muscular dystrophy

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

2003

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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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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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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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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

Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up

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

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

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

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

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

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

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

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

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

Reliability of hand-held dynamometry in spinal muscular atrophy

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

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

Autoimmunity in intervertebral disc herniation: from bench to bedside

Early prednisone treatment in Duchenne muscular dystrophy

Alisporivir rescues defective mitochondrial respiration 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

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

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