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List of works by Nicola Ticozzi

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

scientific article

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

scientific article published on 21 July 2017

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

scientific article published on 19 August 2021

A review of options for treating sialorrhea in amyotrophic lateral sclerosis

scientific article published on 16 September 2014

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

scientific article published on 16 March 2012

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

scientific article published on 13 May 2017

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

scientific article published on 11 January 2017

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

scientific article published on 09 September 2009

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

scientific article published on 2 July 2013

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

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

scientific article published on 31 May 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

scientific article

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

scientific article

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

scientific article published on 4 July 2012

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

scientific article published on 2 October 2013

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Cerebral amyloid angiopathy-related inflammation: an emerging disease

scientific article published on 11 May 2011

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

scientific article published on 28 February 2018

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

scientific article published on 12 May 2016

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

preprint

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

scholarly article

Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis

scientific article published in 2022

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

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

scientific article published on 22 October 2014

Genetics of familial Amyotrophic lateral sclerosis

scientific article published on March 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 25 July 2016

Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis

scientific article published in 2022

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

scientific article published in April 2009

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

scientific article published on 23 June 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

scientific article published on 12 February 2016

Mutational analysis of TARDBP in neurodegenerative diseases

scientific article

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

scientific article published on 3 December 2011

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

scientific article

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

scientific article (publication date: 27 February 2009)

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

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

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

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.

scientific article

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

scientific article published on 25 May 2011

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

scientific article published in July 2012

Paraoxonase gene mutations in amyotrophic lateral sclerosis

scientific article

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

scientific article

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.

scientific article published on 13 December 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

scientific article published on 11 October 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

scientific article published in 2022

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

scientific article

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

scientific article

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.

scientific article

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.

scientific article published on 17 July 2017

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

scientific article published on 24 May 2016

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

scientific article published on 8 November 2012

VPS54 genetic analysis in ALS Italian cohort

article

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