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List of works by Luciano Merlini

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

scientific article

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

scientific article published in September 2003

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands

scientific article published in February 2002

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

scientific article published in February 2002

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.

scientific article published in November 2002

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

scientific article published on 19 February 2014

A linkage study of Emery-Dreifuss muscular dystrophy

scientific article published on 01 December 1986

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

article

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

scientific article

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

scientific article

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

article

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

scientific article

Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy.

scientific article

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

scientific article published on 28 February 2017

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

scientific article

Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts

scientific article (publication date: 11 April 2003)

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

scientific article published on 22 September 2016

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

scientific article published on 31 October 2010

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

scientific article published on 01 October 2008

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands

scientific article published in March 2002

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

scientific article published on 01 September 1994

Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.

scientific article published on 12 September 2013

Calf myopathy with a twist

scientific article published on 01 January 1994

Cardiac and Pulmonary Investigations in Bethlem Myopathy

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

scientific article

Central sensitization in chronic low back pain: A narrative review.

scientific article published on 4 March 2016

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

scientific article published in 2024

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

scientific article published in October 2002

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

article

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

article by Giuseppe Boriani et al published April 2003 in Stroke Journal

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

article

Collagen VI myopathies: from the animal model to the clinical trial.

scientific article published on 06 January 2009

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

scientific article published in April 2004

Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response

article

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

scientific article published on December 2000

Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies

scientific article

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

scientific article

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results

scientific article

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers

scientific article

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

scientific article published on 4 March 2016

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

scientific article

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article

Detecting collagen VI in Bethlem myopathy.

scientific article published in March 2015

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

scientific article

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

scientific article published on 01 August 1996

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

scientific article published in September 2005

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

scientific article

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis ⬇️

scientific article published on November 2, 1998

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

scholarly article by Marcella Neri et al published December 2007 in Neuromuscular Disorders

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

article by Luciano Merlini et al published June 2012 in Muscle and Nerve

Early onset collagen VI myopathies: Genetic and clinical correlations

scientific article

Early prednisone treatment in Duchenne muscular dystrophy

scientific article

Early surgery in Duchenne muscular dystrophy. Experience at Istituto Ortopedico Rizzoli, Bologna, Italy

article

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

scientific article published on 26 December 2016

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

scientific article

Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts.

scientific article published in July 2014

Emerin-prelamin A interplay in human fibroblasts

scientific article

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

article

Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]

scholarly article published in Molecular Genetics and Metabolism

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

scientific article published on 30 December 2011

Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

scientific article

Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.

scientific article published on October 1994

Fixation of winged scapula in facioscapulohumeral muscular dystrophy

scientific article

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

scientific article published in December 2002

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

scientific article published on December 1996

GDAP1 mutations in Czech families with early-onset CMT

scientific article

GNE protein expression and subcellular distribution are unaltered in HIBM.

scientific article published on August 2007

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

scientific article

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

scientific article published on 01 October 1999

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

article

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

scientific article published in February 2005

Growth hormone evaluation in Duchenne muscular dystrophy.

scientific article published in October 1988

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

article

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

scientific article published on 01 December 2000

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings ⬇️

scientific article published on March 1, 1998

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

article

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

scientific article

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

scientific article published in June 2005

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

scientific article published in May 2009

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

scientific article

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

article

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

scientific article (publication date: November 2003)

Immunocytochemical detection of emerin within the nuclear matrix

scientific article

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.

scientific article published in December 1998

Improving clinical trial design for Duchenne muscular dystrophy.

scientific article published on 26 August 2015

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

scientific article published on 01 October 1999

Isokinetic muscle testing (IMT) in neuromuscular diseases. Preliminary report

scientific article published on January 1, 1992

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

scientific article published on 2 February 2005

Laminopathies: from the heart of the cell to the clinics

scientific article published in October 2004

Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.

scientific article published on January 1992

Long-term results of spine surgery in Duchenne muscular dystrophy

scientific article published on 01 January 1996

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

scientific article published in February 2011

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies

scientific article published on 12 April 2011

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

scientific article

Marinesco-Sjogren syndrome, fanfare, and more

scientific article

Measuring muscle strength in clinical trials

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

scientific article

Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy

scientific article published on June 2013

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

scientific article published in July 1996

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

scientific article published on 16 November 2003

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

scholarly article

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

scientific article

Motor function-muscle strength relationship in spinal muscular atrophy

Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy

scientific article published on 01 January 1996

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

scientific article

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

scientific article

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

scientific article

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

scientific article

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

scientific article

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

scientific article (publication date: November 2003)

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes ⬇️

scientific article published on 01 January 1998

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.

scientific article published on 22 May 2014

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

scientific article published in 2023

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

scientific article published on 01 April 2002

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

article published in 2001

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

scientific article published on 01 July 1999

Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy.

scientific article

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

scientific article published on 17 March 2009

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

scientific article published on 01 April 1998

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

scientific article

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

scientific article (publication date: October 2003)

Paternal germline mosaicism in collagen VI related myopathies

scientific article published on 30 April 2015

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

scientific article published on 2 October 2012

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

scientific article published on 21 March 2007

Pompe disease: Design, methodology, and early findings from the Pompe Registry

article by Barry J. Byrne et al published May 2011 in Molecular Genetics and Metabolism

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

scientific article published on 11 February 2011

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

scientific article published on 01 May 1996

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies

scientific article published on 14 September 2007

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

article

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

scientific article published on 5 March 2008

Reliability of hand-held dynamometry in spinal muscular atrophy

article by Luciano Merlini et al published July 2002 in Muscle and Nerve

Rigid internal fixation of the jaws in an adult patient with facio-scapulo-humeral muscular dystrophy: report of a case

scientific article published on 01 October 1997

Saccadic eye movements are impaired in Duchenne muscular dystrophy.

scientific article published on November 2001

Sarcopenia and sarcopenic obesity in patients with muscular dystrophy

scientific article

Scapulopexy of winged scapula secondary to facioscapulohumeral muscular dystrophy.

scientific article

Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy

scientific article published on 6 May 2009

Severe cervical stenosis due to ossification of the posterior longitudinal ligament without neurological manifestations (“silent OPLL”)

scientific article published on 01 February 1989

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

Spine surgery in spinal muscular atrophy: Long-term results

scientific article published on 01 May 1993

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

scientific journal article

Surgical treatment of neck hyperextension in duchenne muscular dystrophy by posterior interspinous fusion

Surgical treatment of neck hyperextension in myopathies

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

scientific article

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy

scientific article published on 8 June 2016

The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

scientific article published on 10 June 2009

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

scientific article published on May 2006

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

scientific article published on 8 July 2004

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry

scientific article

Therapy of collagen VI-related myopathies (Bethlem and Ullrich).

scientific article

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

scientific article published on 01 January 2006

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

scientific article

X-linked vacuolated myopathy: membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S-protein.

scientific article published in July 1998

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