List of works - Elide Mantuano

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

scientific article

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

scientific article

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

scientific article

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

scientific article published on 9 January 2014

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.

scientific article published in May 1997

Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-formin

article

Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador

scientific article published on 01 June 1997

Apolipoprotein E (APOE) allele frequencies in late-onset sporadic Alzheimer's disease (AD), mixed dementia and vascular dementia: lack of association of epsilon 4 allele with AD in Italian octogenarian patients.

scientific article published in December 1995

Apolipoproteins B and E, and angiotensin I-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels

article

Application of Molecular Analysis to Genetic Counseling in the Wiskott–Aldrich Syndrome (WAS)

scientific article published on 01 September 1993

Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression?

scientific article published on 01 October 2019

Characterization of human frataxin missense variants in cancer tissues

scientific article published on 18 June 2019

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

scientific article

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]

scientific article published on 30 April 2019

DNA Restriction Fragment Analysis of the Somatostatin Gene in Familial Isolated Growth Hormone Deficiency Type I

article

DNA polymorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid levels in Italian patients with vascular dementia or Alzheimer's disease

scientific article published in July 1998

Different responses of PC12 cells to different pro-nerve growth factor protein variants

scientific article published on 03 July 2019

Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice

scientific article published on 26 March 2011

Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

scientific article published on 22 June 2007

Episodic Ataxias: Faux or Real?

scientific article published on 05 September 2020

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

scientific article

Evidence for linkage equilibrium between two RFLPs associated with the human SST locus

article

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

scientific article

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

scientific article published on September 1996

Genetic variations of insulin-like growth factor I in Italy

scientific article

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

scientific article published on 02 February 2010

Leukocyte telomere shortening in Huntington's disease

scientific article published on 28 October 2018

Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1

scientific article

Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome

scientific article published on 01 January 1993

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

scientific article

Multiple restriction site polymorphism at the human somatostatin locus: a population study in Italy.

scientific article published in January 1988

Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1) ⬇️

scientific article published on June 1, 1998

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

scientific article

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

scientific article

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

scientific article published on 21 October 2018

Restriction Fragment Length Polymorphism of the D1S1 Locus in Italy

article

Restriction Fragment Length Polymorphism of the D5S4 Locus in Italy

article

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

scientific article published on January 2003

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

scientific article published in March 1998

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

scientific article

List of works by Elide Mantuano

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.

Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-formin

Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador

Apolipoprotein E (APOE) allele frequencies in late-onset sporadic Alzheimer's disease (AD), mixed dementia and vascular dementia: lack of association of epsilon 4 allele with AD in Italian octogenarian patients.

Apolipoproteins B and E, and angiotensin I-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels

Application of Molecular Analysis to Genetic Counseling in the Wiskott–Aldrich Syndrome (WAS)

Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression?

Characterization of human frataxin missense variants in cancer tissues

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]

DNA Restriction Fragment Analysis of the Somatostatin Gene in Familial Isolated Growth Hormone Deficiency Type I

DNA polymorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid levels in Italian patients with vascular dementia or Alzheimer's disease

Different responses of PC12 cells to different pro-nerve growth factor protein variants

Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice

Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

Episodic Ataxias: Faux or Real?

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

Evidence for linkage equilibrium between two RFLPs associated with the human SST locus

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

Genetic variations of insulin-like growth factor I in Italy

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Leukocyte telomere shortening in Huntington's disease

Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1

Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

Multiple restriction site polymorphism at the human somatostatin locus: a population study in Italy.

Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1) ⬇️

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

Restriction Fragment Length Polymorphism of the D1S1 Locus in Italy

Restriction Fragment Length Polymorphism of the D5S4 Locus in Italy

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

Different responses of PC12 cells to different pro-nerve growth factor protein variants