List of works - Francesca Luisa Conforti

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

scientific article published on 01 September 2018

A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy

scientific article published on 30 July 2019

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

article

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

article

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

scientific article published on 5 June 2014

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 mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

scientific article published in October 2002

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

scientific article

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

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

scientific article published in April 2004

Ag-NPs induce apoptosis, mitochondrial damages and MT3/OSGIN2 expression changes in an in vitro model of human dental-pulp-stem-cells-derived neurons

scientific article published on 23 April 2018

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

scientific article

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

scientific article published on February 2004

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

scientific article published on 28 November 2012

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

scientific article

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

scientific article published in October 1998

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

scientific article

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

article

Cdk4 Regulates Glioblastoma Cell Invasion and Stemness and Is Target of a Notch Inhibitor Plus Resveratrol Combined Treatment

scientific article published in 2023

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

scientific article

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

scientific article published on March 2012

Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion

scientific article published on 14 June 2018

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

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

scientific article published on 01 November 2004

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

scientific article

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

Functional overlap and divergence between ALS and bvFTD.

scientific article published on 28 June 2014

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

scientific article published in November 2004

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

Gene conversion events in adult-onset spinal muscular atrophy

article

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

scientific article published on 06 July 2013

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

scientific article published on 02 December 2020

HFE p.H63D polymorphism does not influence ALS phenotype and survival

scientific article published on 18 June 2015

Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS

scientific article published on 10 July 2019

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

article

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

scientific article

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

scientific article published on 5 December 2003

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

Selection and Prioritization of Candidate Drug Targets for Amyotrophic Lateral Sclerosis Through a Meta-Analysis Approach

scientific article published on 24 February 2017

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

scientific article

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

article published in 2011

Subcortical motor plasticity in patients with sporadic ALS: An fMRI study.

scientific article published on 27 March 2006

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

article

Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis

scientific article published on 26 September 2018

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

article

Traceability of "Tuscan PGI" Extra Virgin Olive Oils by ¹H NMR Metabolic Profiles Collection and Analysis

scientific article published in 2018

List of works by Francesca Luisa Conforti

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

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

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

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 mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

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

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

Ag-NPs induce apoptosis, mitochondrial damages and MT3/OSGIN2 expression changes in an in vitro model of human dental-pulp-stem-cells-derived neurons

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

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

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

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

Cdk4 Regulates Glioblastoma Cell Invasion and Stemness and Is Target of a Notch Inhibitor Plus Resveratrol Combined Treatment

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion

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

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

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.

Functional overlap and divergence between ALS and bvFTD.

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

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.

Gene conversion events in adult-onset spinal muscular atrophy

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

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

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

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

Selection and Prioritization of Candidate Drug Targets for Amyotrophic Lateral Sclerosis Through a Meta-Analysis Approach

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

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

Subcortical motor plasticity in patients with sporadic ALS: An fMRI study.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis

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

Traceability of "Tuscan PGI" Extra Virgin Olive Oils by ¹H NMR Metabolic Profiles Collection and Analysis