List of works - Vincenzo Nigro

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

scientific article

The human HOX gene family

scientific article

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

scientific article

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

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

scientific article published on July 1994

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

scientific article

Evaluation of the cardiomyopathy in becker muscular dystrophy

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

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

scientific article published in May 1995

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

scientific 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

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

scientific article published in January 2002

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

article published in 2005

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

scientific article published on 18 March 2014

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

scientific article published on 26 January 2016

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

scientific article

Mutation of dystrophin gene and cardiomyopathy

article

Clinical variability in calpainopathy: what makes the difference?

scientific article

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

scientific article published in April 2009

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

scientific article published in February 2008

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

scientific article published on 05 February 2009

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

scientific article (publication date: May 2002)

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

scientific article

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

article

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

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

scientific article published on October 2011

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

scientific article published on 01 January 1993

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

scientific article published on 27 April 2011

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

scientific article published in 2013

Delta-sarcoglycan is required for early zebrafish muscle organization

scientific article published on 8 December 2004

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

scientific article published on 08 June 2016

Analysis of 22 deletion breakpoints in dystrophin intron 49.

scientific article

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

scientific article

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

scientific article published on 30 March 2015

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

scientific article published on 6 September 2011

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

scholarly article

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

article

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

scientific article published on 2 September 2011

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

scientific article published on July 30, 2014

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

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

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

scientific article

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

scientific article (publication date: 2009)

Molecular and muscle pathology in a series of caveolinopathy patients

scientific article

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Exon–Intron Organization of the Human Dystrophin Gene

article

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

scientific journal article

List of works by Vincenzo Nigro

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

The human HOX gene family

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

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

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

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

Evaluation of the cardiomyopathy in becker muscular dystrophy

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

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

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

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

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

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

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

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

Mutation of dystrophin gene and cardiomyopathy

Clinical variability in calpainopathy: what makes the difference?

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

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

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

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

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

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

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

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

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

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

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

Delta-sarcoglycan is required for early zebrafish muscle organization

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

Analysis of 22 deletion breakpoints in dystrophin intron 49.

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

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

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

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

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

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

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

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

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

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

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

Molecular and muscle pathology in a series of caveolinopathy patients

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

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

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

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

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

Exon–Intron Organization of the Human Dystrophin Gene

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