Lista de obras -

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

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

artículo científico publicado en 2006

A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

artículo científico publicado en 2013

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 presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease

artículo científico publicado en 2006

A repository based on a dynamically extensible data model supporting multidisciplinary research in neuroscience

artículo científico publicado en 2012

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

artículo científico publicado en 2006

Androgen receptor gene and sex-specific Alzheimer's disease

artículo científico publicado en 2013

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

artículo científico publicado en 2014

CXCR4 involvement in neurodegenerative diseases

artículo científico publicado en 2018

Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia

scholarly article by Edward D Huey et al published November 2008 in Expert Opinion on Therapeutic Targets

Characteristics of frontotemporal dementia patients with a Progranulin mutation

artículo científico publicado en 2006

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

artículo científico publicado en 2007

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

artículo científico publicado en 2015

Elderly individuals with FTLD.

artículo científico publicado el 1 de marzo de 2013

FUS and TDP43 genetic variability in FTD and CBS

artículo científico publicado en 2011

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

artículo científico publicado en 2009

Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia

artículo científico publicado en 2010

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

artículo científico publicado en 2013

Familial thoracic aortic aneurysm with dissection presenting as flash pulmonary edema in a 26-year-old man.

artículo científico publicado en 2014

Frontal temporal dementia: dissecting the aetiology and pathogenesis

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Frontotemporal dementia in elderly individuals

artículo científico

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies

artículo científico publicado en 2011

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

artículo científico publicado en 2016

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

artículo científico publicado en 2016

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Implication of common and disease specific variants in CLU, CR1, and PICALM.

artículo científico publicado en 2012

Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).

artículo científico publicado en 2005

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia

artículo científico publicado en 2008

Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia

artículo científico publicado en 2010

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

artículo científico publicado en 2006

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

artículo científico publicado en 2007

Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia

artículo científico publicado en 2010

Protein network analysis reveals selectively vulnerable regions and biological processes in FTD

Screening for C9ORF72 repeat expansion in FTLD.

artículo científico publicado en 2012

Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy

artículo científico publicado en 2015

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

artículo científico publicado en 2018

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

artículo científico publicado en 2017

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

artículo científico

Lista de obras de

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

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

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

A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease

A repository based on a dynamically extensible data model supporting multidisciplinary research in neuroscience

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

Androgen receptor gene and sex-specific Alzheimer's disease

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

CXCR4 involvement in neurodegenerative diseases

Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia

Characteristics of frontotemporal dementia patients with a Progranulin mutation

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

Elderly individuals with FTLD.

FUS and TDP43 genetic variability in FTD and CBS

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

Familial thoracic aortic aneurysm with dissection presenting as flash pulmonary edema in a 26-year-old man.

Frontal temporal dementia: dissecting the aetiology and pathogenesis

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

Frontotemporal dementia in elderly individuals

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Genetic Variability in CHMP2B and Frontotemporal Dementia

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

Implication of common and disease specific variants in CLU, CR1, and PICALM.

Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia

Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia

Protein network analysis reveals selectively vulnerable regions and biological processes in FTD

Screening for C9ORF72 repeat expansion in FTLD.

Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene