List of works - Luciano Merlini

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 31 October 2010

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

scientific article published on 16 November 2003

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

scientific article

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

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)

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

article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scholarly article

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

scientific article

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

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)

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

scientific article published on 01 October 2008

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

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

scientific article

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

article

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

scientific article published on 10 June 2009

Reliability of hand-held dynamometry in spinal muscular atrophy

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

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

scientific article

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

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

scientific article published on May 2006

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

scientific article published on 2 February 2005

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

scientific 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

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

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

scientific article

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

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

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

scientific article published on 11 February 2011

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

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

scientific article published on 21 March 2007

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

Early onset collagen VI myopathies: Genetic and clinical correlations

scientific 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

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

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

scientific article published on 01 July 1999

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

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

scientific article (publication date: 11 April 2003)

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

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

article published in 2001

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

scientific article published on 01 September 1994

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

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

scientific article published in September 2005

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

Early prednisone treatment in Duchenne muscular dystrophy

scientific article

List of works by Luciano Merlini

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

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

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

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

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

Reliability of hand-held dynamometry in spinal muscular atrophy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Early onset collagen VI myopathies: Genetic and clinical correlations

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

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

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

Phenotype modulators in myophosphorylase deficiency

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

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

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

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

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

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

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

Early prednisone treatment in Duchenne muscular dystrophy