List of works - Luciano Merlini

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

scientific article

Motor function-muscle strength relationship in spinal muscular atrophy

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

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

scientific journal article

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

scientific article published on February 18, 2014

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

scientific article

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

article

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

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

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

scientific article

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

scientific article

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

scientific article (publication date: November 2003)

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Long-term results of spine surgery in Duchenne muscular dystrophy

scientific article published on 01 January 1996

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

article

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

scientific article published in December 2002

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

scientific article published in May 2009

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

scientific article published on 22 May 2014

A linkage study of Emery-Dreifuss muscular dystrophy

scientific article published on 01 December 1986

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

scientific article published in March 2002

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

article

GNE protein expression and subcellular distribution are unaltered in HIBM.

scientific article published on August 2007

Spine surgery in spinal muscular atrophy: Long-term results

scientific article published on 01 May 1993

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

scientific article

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

scientific article

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

scientific article published on 01 April 2002

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

Immunocytochemical detection of emerin within the nuclear matrix

scientific 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

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

scientific article published on 14 September 2007

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

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

scientific article

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

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

scientific article

Improving clinical trial design for Duchenne muscular dystrophy.

scientific article published on 26 August 2015

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

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

scientific article published in June 2005

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

scientific article published on March 7, 2010

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

scientific article

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

article

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

scientific article published on 22 September 2016

Emerin-prelamin A interplay in human fibroblasts

scientific article

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

scientific article

Cardiac and Pulmonary Investigations in Bethlem Myopathy

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

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

scientific article

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

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

article

List of works by Luciano Merlini

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

Motor function-muscle strength relationship in spinal muscular atrophy

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

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

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

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

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

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

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

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

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

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

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Long-term results of spine surgery in Duchenne muscular dystrophy

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

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

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

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

A linkage study of Emery-Dreifuss muscular dystrophy

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

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

GNE protein expression and subcellular distribution are unaltered in HIBM.

Spine surgery in spinal muscular atrophy: Long-term results

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

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

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

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

Immunocytochemical detection of emerin within the nuclear matrix

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

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

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

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

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

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

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

Improving clinical trial design for Duchenne muscular dystrophy.

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

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

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

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

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

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

Emerin-prelamin A interplay in human fibroblasts

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

Cardiac and Pulmonary Investigations in Bethlem Myopathy

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

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

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

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

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