List of works - Jennifer M Kachergus

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

scientific article published on 25 July 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on August 2010

Clinical and molecular features of Hürthle cell carcinoma of the thyroid

scientific article published on January 2015

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

scientific article published in May 2005

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

scientific article published in September 2005

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

scientific article (publication date: February 2004)

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

scientific article published on October 2010

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

scientific article published on 30 April 2015

DCTN1 mutations in Perry syndrome

scientific article

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 ⬇️

scientific article published on February 10, 2012

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

scientific article

Expanding the clinical phenotype of SNCA duplication carriers

scientific article

Fine-mapping and candidate gene investigation within the PARK10 locus

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Glucocerebrosidase mutations in diffuse Lewy body disease

scientific article

Glucosidase-beta variations and Lewy body disorders

scientific article

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

scientific article

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

scientific article published on 8 February 2005

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

scientific article (publication date: June 2003)

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

scientific article

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

scientific article published on 28 October 2016

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

scientific article

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

scientific article

LRRK2 R1441G in Spanish patients with Parkinson's disease.

scientific article

LRRK2 mutations and Parkinsonism

scientific article published in The Lancet

LRRK2 variation and Parkinson's disease in African Americans

scientific article

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

scientific article

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

scientific article published on 7 December 2006

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

scientific article

Lrrk2 pathogenic substitutions in Parkinson's disease

scientific article published on 17 September 2005

MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma

scientific article

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

scientific article published in January 2004

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

scientific article (publication date: 18 November 2004)

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

scientific article

Pallidonigral TDP-43 pathology in Perry syndrome

scientific article published on 23 August 2008

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

scientific article published in June 2004

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

scientific article

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

scientific article

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 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

scientific article

List of works by Jennifer M Kachergus

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