Lista de obras -

<i>MAPT</i> Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family

artículo científico publicado en 2022

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A Case of Dementia Parkinsonism Resembling Progressive Supranuclear Palsy Due to Mutation in the Tau Protein Gene ⬇️

artículo científico publicado el 1 de octubre de 2003

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

artículo científico publicado en 2015

A new function of microtubule-associated protein tau: involvement in chromosome stability

artículo científico publicado en 2008

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

artículo científico publicado en 2009

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

artículo científico publicado en 2011

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

artículo científico publicado el 22 de junio de 2011

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg

artículo científico publicado en 2016

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

artículo científico publicado en 2015

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

artículo científico publicado en 2014

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Conversion of the BASE prion strain into the BSE strain: the origin of BSE?

artículo científico publicado en 2007

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

artículo científico publicado en 2017

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

artículo científico publicado en 2005

Frontotemporal dementia and its subtypes: a genome-wide association study

artículo científico publicado en 2014

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

artículo científico publicado en 2016

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

artículo científico publicado en 2010

Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.

artículo científico publicado en 2017

New MAPT variant in a FTD patient with Alzheimer's disease phenotype at onset

artículo científico publicado en 2020

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

artículo científico publicado en 2011

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

artículo científico publicado en 2011

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

artículo científico publicado en 2020

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Role of plasminogen in propagation of scrapie

artículo científico publicado en 2005

Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc

artículo científico publicado en 2005

Tau Mutations Serve as a Novel Risk Factor for Cancer

artículo científico publicado en 2018

Tau Mutations as a Novel Risk Factor for Cancer-Response

artículo científico publicado en 2018

The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy

artículo científico publicado en 2022

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.

artículo científico publicado en 2011

Lista de obras de

<i>MAPT</i> Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A Case of Dementia Parkinsonism Resembling Progressive Supranuclear Palsy Due to Mutation in the Tau Protein Gene ⬇️

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

A new function of microtubule-associated protein tau: involvement in chromosome stability

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Conversion of the BASE prion strain into the BSE strain: the origin of BSE?

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

Frontotemporal dementia and its subtypes: a genome-wide association study

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.

New MAPT variant in a FTD patient with Alzheimer's disease phenotype at onset

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Role of plasminogen in propagation of scrapie

Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc

Tau Mutations Serve as a Novel Risk Factor for Cancer

Tau Mutations as a Novel Risk Factor for Cancer-Response

The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.