List of works - Laurie Ozelius

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

scientific article published on September 1, 1997

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews

scientific article

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

scientific article

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

scientific article

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

article

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

scientific article published on 01 December 1998

The DYT1 phenotype and guidelines for diagnostic testing

scientific article

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

scientific article

Mutations in GNAL cause primary torsion dystonia

scientific article

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

scientific journal article

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

scientific article

Distribution, type, and origin of Parkin mutations: review and case studies

scientific article published in October 2004

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

scientific journal article

Distinct neurological disorders with ATP1A3 mutations

scientific article

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

scientific article

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

scientific article published in February 2004

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

scientific article published on April 2009

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

scientific article

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

scientific article published in February 2003

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

scientific article

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

scientific article published on 27 April 2007

TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress

scientific article

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

scientific article

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

scientific article published in June 1993

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

scientific article published in April 2009

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

scientific article published on 15 October 2013

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

scientific article published on 14 March 2006

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene

scientific article published in March 2001

Rapid-onset dystonia-parkinsonism

scientific article published on 01 December 1993

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

scientific article

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

scientific article (publication date: April 2013)

Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia

scientific article

Age-specific penetrance ofLRRK2G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

scientific article published on June 10, 2015

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype

scientific article published in July 2000

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

scientific article published on 01 November 1994

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

scientific article published in January 2018

A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study

scientific article

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

scientific article

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

scientific article published on 01 August 2001

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

scientific article

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

scientific article

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

scientific article

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

scientific article

Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.

scientific article published in January 2002

Myoclonus-dystonia: significance of large SGCE deletions

scientific article published on February 2008

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites

scientific article published in September 2007

Genetic and clinical features of primary torsion dystonia

scientific article

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

scientific article

Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain

scientific article published on November 1999

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

scientific article published on February 15, 2012

List of works by Laurie Ozelius

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

The DYT1 phenotype and guidelines for diagnostic testing

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Mutations in GNAL cause primary torsion dystonia

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

Distribution, type, and origin of Parkin mutations: review and case studies

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

Distinct neurological disorders with ATP1A3 mutations

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene

Rapid-onset dystonia-parkinsonism

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia

Age-specific penetrance ofLRRK2G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.

Myoclonus-dystonia: significance of large SGCE deletions

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites

Genetic and clinical features of primary torsion dystonia

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites