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Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
40/40 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
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The 40 checked references that resolve
resolves10.1212/01.wnl.0000327611.01687.5e
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
resolves10.1093/brain/122.4.649
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
resolves10.1016/0960-8966(94)90091-4
Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
resolves10.1073/pnas.121027598
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
resolves10.1136/jnnp-2013-307052
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)
resolves10.1038/ng1270
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
resolves10.1073/pnas.0610270104
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
resolves10.1002/jcp.23039
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies
resolves10.1073/pnas.0800962105
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
resolves10.1155/2011/139194
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
resolves10.1038/nm.2247
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
resolves10.1016/j.nmd.2014.03.009
201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands
resolves10.1080/15548627.2015.1108508
Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice
resolves10.1242/jcs.114041
Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies
resolves10.1016/j.celrep.2014.07.061
Autophagy Impairment in Muscle Induces Neuromuscular Junction Degeneration and Precocious Aging
resolves10.1016/j.celrep.2015.12.042
Long-Term Calorie Restriction Enhances Cellular Quality-Control Processes in Human Skeletal Muscle
resolves10.1038/nature05291
The roles of intracellular protein-degradation pathways in neurodegeneration
resolves10.1016/S0960-8966(02)00139-6
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands
resolves10.1038/oby.2004.250
Sarcopenic Obesity Predicts Instrumental Activities of Daily Living Disability in the Elderly
resolves10.1111/j.1440-1797.2006.00528.x
Dietary protein restriction benefits patients with chronic kidney disease (Review Article)
resolves10.3389/fnagi.2014.00215
Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene
resolves10.1016/j.bbadis.2014.05.033
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
resolves10.1002/humu.21022
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
resolves10.1136/jmg.2004.023754
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
The 1 reference without a DOI — listed, not checked
no DOI — not checkedLARN Livelli di Assunzione di Riferimento di Nutrienti ed energia per la popolazione italiana. IV Revisione
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