List of works - Vincenzo Nigro

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

scientific article published on 07 July 2016

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

article

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

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

scientific article published in 1999

Reverse engineering gene network identifies new dysferlin-interacting proteins

scientific article published on 30 November 2010

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

scientific article published on 28 January 2013

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

scientific article

Calpain-3 mutations in Turkey

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

scientific article published on 22 April 2015

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

scientific article

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

article

Genetic association of ARHGAP21 gene variant with mandibular prognathism

scientific article published on 17 February 2015

Dominant muscular dystrophy with a novelSYNE1gene mutation

article

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

The fourth component of the sarcoglycan complex

scientific article published on 01 February 1997

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

scientific article published on 13 May 2015

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

scientific article published on 30 April 2013

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

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

Clinical, biochemical and molecular characterization of prosaposin deficiency.

scientific article published on 2 February 2016

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

scientific article published on 17 February 2016

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

scientific article published on 01 June 2000

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

scientific article

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

scientific article published on 8 July 2013

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

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

scientific article published on 01 November 1996

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

scientific article

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

scientific article

Enhancer chip: detecting human copy number variations in regulatory elements

scientific article

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

article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

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

scientific article published on 8 March 2017

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

scientific article published on August 1986

Particulate nature of the unoccupied uterine estrogen receptor

scientific article published on 01 April 1985

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

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

article

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

Perioral skin biopsy to study skeletal muscle protein expression

Next generation sequencing detection of late onset pompe disease

scientific article published on 21 January 2016

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

article

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

scientific article

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

article

Early onset calpainopathy with normal non-functional calpain 3 level

scientific article

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

article

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

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

scientific article

Familial polyglucosan body myopathy with unusual phenotype

scientific article published on 01 April 2015

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

scientific article published on 16 July 2014

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

List of works by Vincenzo Nigro

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

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

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

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

Reverse engineering gene network identifies new dysferlin-interacting proteins

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

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

Calpain-3 mutations in Turkey

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

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

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

Genetic association of ARHGAP21 gene variant with mandibular prognathism

Dominant muscular dystrophy with a novelSYNE1gene mutation

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.

The fourth component of the sarcoglycan complex

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

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

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

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

Clinical, biochemical and molecular characterization of prosaposin deficiency.

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

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

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

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

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

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

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

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

Enhancer chip: detecting human copy number variations in regulatory elements

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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

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

Particulate nature of the unoccupied uterine estrogen receptor

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

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

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

Perioral skin biopsy to study skeletal muscle protein expression

Next generation sequencing detection of late onset pompe disease

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

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

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

Early onset calpainopathy with normal non-functional calpain 3 level

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

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

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

Familial polyglucosan body myopathy with unusual phenotype

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

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