List of works - Corrado Angelini

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

scientific article

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

scientific article published on May 31, 2012

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

scientific article

MELAS: clinical features, biochemistry, and molecular genetics

scientific article published on April 1, 1992

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

scientific article published on March 2, 1973

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

scientific article published on 14 February 2006

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

scientific article

Study of time-dependentCP-violating asymmetries and flavor oscillations in neutralBdecays at theΥ(4S)

article

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

scientific article

Measurement of the CP asymmetry amplitude sin2beta with B0 mesons

scientific article published in Physical Review Letters

Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

scientific article published on 4 September 2012

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

scientific article published in August 2005

Cerebellar ataxia and coenzyme Q10 deficiency

scientific article published in April 2003

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

scientific article published on 01 August 1989

Observation of a Broad Structure in the π + π − J / ψ Mass Spectrum around 4.26 GeV / c 2

scientific article (publication date: 28 September 2005)

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

article

Mutations in the sarcoglycan genes in patients with myopathy

scientific article

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

scientific article published on December 1980

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

scientific article

Carnitine deficiency, organic acidemias, and Reye's syndrome

scientific article

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

scientific article published on 01 December 1996

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

scientific article published on 12 September 2007

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

scientific article published on 01 September 2000

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

scientific article published on 12 November 2011

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

scientific article published on May 1995

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

scientific article

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Deflazacort in Duchenne dystrophy: study of long-term effect

scientific article published on 01 April 1994

Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

scientific article

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

scientific article

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

scientific article published on 11 March 2010

Cardiac involvement in Becker muscular dystrophy

scientific article

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

scientific article

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

article

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

scientific article

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Time-integrated luminosity recorded by the BABARdetector at the PEP-II e + e - collider

article

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

scientific article published on 19 February 2009

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

scientific article

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

scientific article published on January 1995

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

scientific article published on 23 March 2009

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

scientific article published in August 2003

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

scientific article

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

scientific article published in August 2006

List of works by Corrado Angelini

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

MELAS: clinical features, biochemistry, and molecular genetics

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

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

Study of time-dependentCP-violating asymmetries and flavor oscillations in neutralBdecays at theΥ(4S)

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Measurement of the CP asymmetry amplitude sin2beta with B0 mesons

Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Cerebellar ataxia and coenzyme Q10 deficiency

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

Observation of a Broad Structure in the π + π − J / ψ Mass Spectrum around 4.26 GeV / c 2

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

Mutations in the sarcoglycan genes in patients with myopathy

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Carnitine deficiency, organic acidemias, and Reye's syndrome

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

Deflazacort in Duchenne dystrophy: study of long-term effect

Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

Cardiac involvement in Becker muscular dystrophy

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Time-integrated luminosity recorded by the BABARdetector at the PEP-II e + e - collider

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study