List of works - Carmine Ungaro

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

article

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

scientific article

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

scientific article published on 04 June 2019

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

scientific article published on 11 March 2008

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

article

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

scientific article published on 4 March 2009

ALS and CHARGE syndrome: a clinical and genetic study

scientific article published on 13 October 2018

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

scientific article

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

scientific article

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

article

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

article

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria

scientific article published on 22 September 2010

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

scientific article published on 04 November 2011

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

article

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

scientific article published in January 2013

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

article

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

scientific article

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

scientific article published on 14 September 2018

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

scientific article

Notch3 protein expression in skin fibroblasts from CADASIL patients

scientific article published on 19 April 2018

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

article

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

scientific article published in March 2007

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

scientific article published on June 2012

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

scientific article

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

article

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia

article

List of works by Carmine Ungaro

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

ALS and CHARGE syndrome: a clinical and genetic study

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria

Comparison of different techniques for detecting 17p12 duplication in CMT1A

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

Notch3 protein expression in skin fibroblasts from CADASIL patients

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia