Lista de obras - Nicola Ticozzi - Dominio Público Uruguay

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

artículo científico publicado en 2013

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

artículo científico publicado en 2017

A preliminary comparison between ECAS and ALS-CBS in classifying cognitive–behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients

artículo científico publicado en 2021

A review of options for treating sialorrhea in amyotrophic lateral sclerosis

artículo científico

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

artículo científico publicado en 2012

An eye-tracker controlled cognitive battery: overcoming verbal-motor limitations in ALS.

artículo científico

An eye-tracking controlled neuropsychological battery for cognitive assessment in neurological diseases.

artículo científico publicado en 2017

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

artículo científico publicado en 2009

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

artículo científico publicado en 2014

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico publicado en 2022

Brain-Computer Interface for Clinical Purposes: Cognitive Assessment and Rehabilitation

artículo científico publicado en 2017

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

artículo científico publicado en 2012

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

artículo científico publicado en 2013

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

Cerebral amyloid angiopathy-related inflammation: an emerging disease

artículo científico publicado en 2011

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

artículo científico publicado en 2018

Cognitive assessment in Amyotrophic Lateral Sclerosis by means of P300-Brain Computer Interface: a preliminary study.

artículo científico publicado en 2016

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis

artículo científico publicado en 2022

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Genetics of familial Amyotrophic lateral sclerosis

artículo científico publicado en 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis

artículo científico publicado en 2022

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

artículo científico publicado en 2009

Human salivary Raman fingerprint as biomarker for the diagnosis of Amyotrophic Lateral Sclerosis

artículo científico publicado en 2020

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

scientific article published on 18 December 2007

MRI abnormalities found 1 year prior to symptom onset in a case of Creutzfeldt-Jakob disease

artículo científico publicado en 2016

Mutational analysis of TARDBP in neurodegenerative diseases

artículo científico publicado en 2009

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

artículo científico publicado en 2011

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

artículo científico publicado en 2011

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2009

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2012

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

artículo científico publicado en 2014

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2011

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

artículo científico publicado en 2012

Paraoxonase gene mutations in amyotrophic lateral sclerosis

artículo científico publicado en 2010

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2012

RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis

scientific article published on March 2011

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

artículo científico publicado en 2012

Stem cells in amyotrophic lateral sclerosis: motor neuron protection or replacement?

scientific article published on July 2010

TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis

artículo científico publicado en 2022

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

artículo científico publicado en 2015

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

artículo científico publicado en 2012

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The diagnosis of Amyotrophic lateral sclerosis in 2010.

artículo científico publicado en 2011

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

artículo científico

The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

artículo científico publicado en 2016

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2012

VPS54 genetic analysis in ALS Italian cohort

article

Lista de obras de Nicola Ticozzi

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

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

A preliminary comparison between ECAS and ALS-CBS in classifying cognitive–behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients

A review of options for treating sialorrhea in amyotrophic lateral sclerosis

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

An eye-tracker controlled cognitive battery: overcoming verbal-motor limitations in ALS.

An eye-tracking controlled neuropsychological battery for cognitive assessment in neurological diseases.

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Brain-Computer Interface for Clinical Purposes: Cognitive Assessment and Rehabilitation

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Cerebral amyloid angiopathy-related inflammation: an emerging disease

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

Cognitive assessment in Amyotrophic Lateral Sclerosis by means of P300-Brain Computer Interface: a preliminary study.

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Genetics of familial Amyotrophic lateral sclerosis

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Human salivary Raman fingerprint as biomarker for the diagnosis of Amyotrophic Lateral Sclerosis

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

MRI abnormalities found 1 year prior to symptom onset in a case of Creutzfeldt-Jakob disease

Mutational analysis of TARDBP in neurodegenerative diseases

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis

Reconsidering the causality of TIA1 mutations in ALS.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

Stem cells in amyotrophic lateral sclerosis: motor neuron protection or replacement?

TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The diagnosis of Amyotrophic lateral sclerosis in 2010.

The effect of SMN gene dosage on ALS risk and disease severity

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

VPS54 genetic analysis in ALS Italian cohort