Lista de obras -

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

artículo científico publicado en 2016

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

artículo científico publicado en 2016

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

scientific article published on 01 January 2020

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

artículo científico publicado en 2014

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

artículo científico publicado en 2020

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Population-specific genetic modification of Huntington's disease in Venezuela.

artículo científico publicado en 2018

Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

artículo científico publicado en 2020

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

artículo científico publicado en 2012

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

artículo científico publicado en 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

scientific article published on 06 January 2020

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

artículo científico publicado en 2019

Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

scientific article published on 01 January 2020

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

artículo científico publicado en 2017

Lista de obras de

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Population-specific genetic modification of Huntington's disease in Venezuela.

Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.