Lista de obras -

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

artículo científico publicado en 2009

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

scientific article published in The Lancet

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease

artículo científico publicado en 2004

An integrated model of the transcriptome of HER2-positive breast cancer

artículo científico publicado en 2013

Assessment of Tumor Heterogeneity, as Evidenced by Gene Expression Profiles, Pathway Activation, and Gene Copy Number, in Patients with Multifocal Invasive Lobular Breast Tumors

artículo científico publicado en 2016

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

artículo científico publicado en 2010

Clinical and molecular features of Hürthle cell carcinoma of the thyroid

artículo científico publicado en 2015

Clinical features of LRRK2-associated Parkinson's disease in central Norway

artículo científico publicado en 2005

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.

artículo científico publicado en 2005

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

artículo científico publicado en 2004

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

artículo científico publicado en 2010

Correction: Folate receptor-α (FOLR1) expression and function in triple negative tumors.

artículo científico publicado en 2015

DCTN1 mutations in Perry syndrome

artículo científico publicado en 2009

Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations

artículo científico publicado en 2012

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

artículo científico publicado en 2014

Expanding the clinical phenotype of SNCA duplication carriers

artículo científico publicado en 2009

Fine-mapping and candidate gene investigation within the PARK10 locus

artículo científico publicado en 2008

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

artículo científico publicado en 2011

Folate receptor-α (FOLR1) expression and function in triple negative tumors

artículo científico publicado en 2015

Gene expression, single nucleotide variant and fusion transcript discovery in archival material from breast tumors

artículo científico publicado en 2013

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

artículo científico publicado en 2010

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

artículo científico publicado en 2009

Glucocerebrosidase mutations in diffuse Lewy body disease

artículo científico publicado en 2011

Glucosidase-beta variations and Lewy body disorders

artículo científico publicado en 2008

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

scientific article published on 26 October 2008

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease

artículo científico publicado en 2010

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism

artículo científico publicado en 2005

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

artículo científico publicado en 2003

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

artículo científico publicado en 2005

Intrinsic Subtype and Therapeutic Response Among HER2-Positive Breaty st Tumors from the NCCTG (Alliance) N9831 Trial

artículo científico publicado en 2016

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

artículo científico publicado en 2010

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

artículo científico publicado en 2009

LRRK2 R1441G in Spanish patients with Parkinson's disease.

artículo científico publicado en 2005

LRRK2 mutations and Parkinsonism

scientific article published in The Lancet

LRRK2 variation and Parkinson's disease in African Americans

artículo científico publicado en 2010

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

article

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease

artículo científico publicado en 2007

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

artículo científico publicado en 2006

Lrrk2 mutations in South America: A study of Chilean Parkinson's disease

artículo científico publicado en 2007

Lrrk2 pathogenic substitutions in Parkinson's disease

scientific article published on 17 September 2005

MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma

artículo científico publicado en 2015

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

artículo científico publicado en 2004

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

artículo científico publicado en 2010

Pallidonigral TDP-43 pathology in Perry syndrome

artículo científico publicado en 2008

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations

artículo científico publicado en 2004

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

artículo científico publicado en 2003

The antineoplastic drug, trastuzumab, dysregulates metabolism in iPSC-derived cardiomyocytes

scientific article published on 18 January 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data

artículo científico publicado en 2014

Translation initiator EIF4G1 mutations in familial Parkinson disease

artículo científico publicado en 2011

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 mutations in Parkinson disease

artículo científico publicado en 2011

Lista de obras de

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease

An integrated model of the transcriptome of HER2-positive breast cancer

Assessment of Tumor Heterogeneity, as Evidenced by Gene Expression Profiles, Pathway Activation, and Gene Copy Number, in Patients with Multifocal Invasive Lobular Breast Tumors

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

Clinical and molecular features of Hürthle cell carcinoma of the thyroid

Clinical features of LRRK2-associated Parkinson's disease in central Norway

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

Correction: Folate receptor-α (FOLR1) expression and function in triple negative tumors.

DCTN1 mutations in Perry syndrome

Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Expanding the clinical phenotype of SNCA duplication carriers

Fine-mapping and candidate gene investigation within the PARK10 locus

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

Folate receptor-α (FOLR1) expression and function in triple negative tumors

Gene expression, single nucleotide variant and fusion transcript discovery in archival material from breast tumors

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

Glucocerebrosidase mutations in diffuse Lewy body disease

Glucosidase-beta variations and Lewy body disorders

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

Intrinsic Subtype and Therapeutic Response Among HER2-Positive Breaty st Tumors from the NCCTG (Alliance) N9831 Trial

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

LRRK2 R1441G in Spanish patients with Parkinson's disease.

LRRK2 mutations and Parkinsonism

LRRK2 variation and Parkinson's disease in African Americans

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

Lrrk2 mutations in South America: A study of Chilean Parkinson's disease

Lrrk2 pathogenic substitutions in Parkinson's disease

MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

Pallidonigral TDP-43 pathology in Perry syndrome

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

The antineoplastic drug, trastuzumab, dysregulates metabolism in iPSC-derived cardiomyocytes

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data

Translation initiator EIF4G1 mutations in familial Parkinson disease

VPS35 Mutations in Parkinson Disease

VPS35 mutations in Parkinson disease