List of works - Vincenzo Nigro

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

scientific article

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

scientific article published on 18 March 2014

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

scientific article published on 01 June 2000

A missense mutation in CASK causes FG syndrome in an Italian family

scientific article published on 05 February 2009

A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

article

A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis

scientific article published on 01 April 1994

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

scientific article published on 06 April 2020

An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus

scientific article published on 01 July 1990

Analysis of 22 deletion breakpoints in dystrophin intron 49.

scientific article

Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus

scientific article published on 01 November 1989

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

scientific article published on 22 April 2015

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

scientific article published on 13 May 2015

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

article

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

scientific article

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Calpain-3 mutations in Turkey

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

scientific article

Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor

scientific article published on 01 January 1993

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

scientific article published on 31 July 2019

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

scientific article published on 30 April 2013

Clinical variability in calpainopathy: what makes the difference?

scientific article

Clinical, biochemical and molecular characterization of prosaposin deficiency.

scientific article published on 2 February 2016

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

scientific article published on 2 September 2011

Delta-sarcoglycan is required for early zebrafish muscle organization

scientific article published on 8 December 2004

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

article published in 2005

Differential regulation by retinoic acid of the homeobox genes of the four HOX loci in human embryonal carcinoma cells ⬇️

scientific article published on March 1, 1991

Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments

scientific article (publication date: 2009)

Dominant muscular dystrophy with a novelSYNE1gene mutation

article

Dystrophin and utrophin complexed with different associated proteins in cardiac Purkinje fibres

article

Early onset calpainopathy with normal non-functional calpain 3 level

scientific article

Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy

article

Enhancer chip: detecting human copy number variations in regulatory elements

scientific article

Estradiol receptor has proteolytic activity that is responsible for its own transformation

scientific article published on August 1986

Evaluation of the cardiomyopathy in becker muscular dystrophy

article by Giovanni Nigro et al published March 1995 in Muscle and Nerve

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

article

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

scientific article

Exon–Intron Organization of the Human Dystrophin Gene

article

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

scientific article

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

scientific article

Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant

scientific article published on 8 July 2013

Familial polyglucosan body myopathy with unusual phenotype

scientific article published on 01 April 2015

Familial trisomy 6p in mother and daughter

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

scientific article published in April 2009

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

scientific article

Genetic association of ARHGAP21 gene variant with mandibular prognathism

scientific article published on 17 February 2015

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

scientific article

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

scientific article published on 26 January 2016

Human HOX genes are differentially activated by retinoic acid in embryonal carcinoma cells according to their position within the four loci

article

Identification and characterization of a novel member of the dystrobrevin gene family

scientific article

Identification of a DNA Binding Protein Cooperating with Estrogen Receptor as RIZ (Retinoblastoma Interacting Zinc Finger Protein)

scientific article published in 1999

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

scientific article published on 31 March 2016

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Inflammatory myopathy in a patient with collagen VI mutations

scientific article published on 18 January 2017

Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell

scientific article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

scientific article published on October 2011

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

scientific article

Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

scientific article published on 8 June 2016

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity

scientific article (publication date: May 2002)

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

scientific article

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy

scientific article published on 23 December 2016

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Molecular and muscle pathology in a series of caveolinopathy patients

scientific article

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

scientific article

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

scientific article

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

scientific article published on 6 September 2011

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

scientific article

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

scientific article published on 27 October 2016

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

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

scientific article published on 27 April 2011

Mutation of dystrophin gene and cardiomyopathy

article

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

scientific article published on 8 March 2017

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

scientific article published in February 2008

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

scientific article

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

Next generation sequencing detection of late onset pompe disease

scientific article published on 21 January 2016

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

scientific article

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

scientific article published in 2013

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

article

On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

article

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography

scientific article published on 3 December 2009

Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and Drosophila

scientific article published on July 1994

Particulate nature of the unoccupied uterine estrogen receptor

scientific article published on 01 April 1985

Perioral skin biopsy to study skeletal muscle protein expression

Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments

scientific article published on 16 July 2014

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Prostaglandin E2Induction of Binding Activity to CRE and AP-2 Elements in Human T Lymphocytes

scientific article published on 01 November 1996

Purified estrogen receptor enhances in vitro transcription

scientific article published on 01 July 1992

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing

scientific article

Reply

Restoration of deficient membrane proteins in the cardiomyopathic hamster by in vivo cardiac gene transfer

scientific article published in January 2002

Retinoic acid induces stage-specific antero-posterior transformation of rostral central nervous system

scientific article published in May 1995

Reverse engineering gene network identifies new dysferlin-interacting proteins

scientific article published on 30 November 2010

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

scientific article published in May 2003

Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE

article

Single-strand conformation polymorphism analysis on the δ-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy

article

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

scientific article published on 30 July 2014

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

scientific article published on 28 January 2013

The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function

scientific article published on 23 August 2005

The fourth component of the sarcoglycan complex

scientific article published on 01 February 1997

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The human HOX gene family

scientific article

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

scientific article published on 19 August 2020

The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action

scholarly article

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

scientific article published on November 2011

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy

scientific article

Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy

scientific article

List of works by Vincenzo Nigro

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

A missense mutation in CASK causes FG syndrome in an Italian family

A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus

Analysis of 22 deletion breakpoints in dystrophin intron 49.

Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Calpain-3 mutations in Turkey

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

Clinical variability in calpainopathy: what makes the difference?

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

Delta-sarcoglycan is required for early zebrafish muscle organization

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

Differential regulation by retinoic acid of the homeobox genes of the four HOX loci in human embryonal carcinoma cells ⬇️

Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments

Dominant muscular dystrophy with a novelSYNE1gene mutation

Dystrophin and utrophin complexed with different associated proteins in cardiac Purkinje fibres

Early onset calpainopathy with normal non-functional calpain 3 level

Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy

Enhancer chip: detecting human copy number variations in regulatory elements

Estradiol receptor has proteolytic activity that is responsible for its own transformation

Evaluation of the cardiomyopathy in becker muscular dystrophy

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

Exon–Intron Organization of the Human Dystrophin Gene

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

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

Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant

Familial polyglucosan body myopathy with unusual phenotype

Familial trisomy 6p in mother and daughter

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

Genetic association of ARHGAP21 gene variant with mandibular prognathism

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

Human HOX genes are differentially activated by retinoic acid in embryonal carcinoma cells according to their position within the four loci

Identification and characterization of a novel member of the dystrobrevin gene family

Identification of a DNA Binding Protein Cooperating with Estrogen Receptor as RIZ (Retinoblastoma Interacting Zinc Finger Protein)

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Inflammatory myopathy in a patient with collagen VI mutations

Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Molecular and muscle pathology in a series of caveolinopathy patients

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

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

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Mutation of dystrophin gene and cardiomyopathy

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Next generation sequencing detection of late onset pompe disease

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex