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List of works by Laurie Ozelius

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

scientific article

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.

scientific article published on 24 December 2015

A genetic linkage map of chromosome 17

scientific article published on 01 September 1990

A genetic linkage map of human chromosome 9q

scientific article published on November 1, 1992

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

scientific journal article

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

scientific article published on 03 May 2019

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

A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.

scientific article published in February 1994

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

scientific article (publication date: 2016)

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

scientific article published on 01 September 2007

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

scientific article

ATP1A3 mutations: what is the phenotype?

scientific article published on 15 January 2014

ATP1A3-Related Neurologic Disorders

scientific article published on 22 February 2018

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

scientific article published on 16 September 2015

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

scientific article published on 10 June 2015

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.

scientific article

Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers

scientific article published on 30 March 2018

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

scientific article

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

scientific article

Author response

Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation

scientific article published on 07 May 2020

Cervical dystonia incidence and diagnostic delay in a multiethnic population

scientific article published on 27 November 2019

Cholesteryl ester transfer protein genotype modifies the effect of apolipoprotein e4 on memory decline in older adults

journal article published in 2016

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from south tyrol ⬇️

scientific article published on 01 September 1998

Clinical expression of LRRK2 G2019S mutations in the elderly

scientific article

Clinical-genetic spectrum of primary dystonia

scientific article published on 01 January 1998

Co-factor insufficiency in dystonia-parkinsonian syndrome

scientific article published on 01 November 1994

Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

scientific article

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

scientific article

Cognitive impairment in rapid-onset dystonia-parkinsonism

scientific article published on 16 January 2014

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

scientific article

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

scientific article published in July 2017

Concordant late onset of craniocervical dystonia in a pair of monozygotic twins

scientific article published on 01 November 1999

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia

scientific article published on 27 June 2016

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

scientific article published in February 2004

DNA linkage analysis in Von Recklinghausen neurofibromatosis

scientific article

DYT-TUBB4A (DYT4 dystonia): New clinical and genetic observations

scientific article published on 17 September 2020

De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia ⬇️

scientific article published on July 1, 1998

Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation

scientific article published on 10 December 2018

Defining research priorities in dystonia

scientific article published on 25 February 2020

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled‐coil domain ⬇️

scientific article published on 08 August 2011

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

scientific article

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.

scientific article published on 11 December 2017

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

scientific article published in February 2018

Distinct neurological disorders with ATP1A3 mutations

scientific article

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

scientific article published on November 1999

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

scientific article published in October 2004

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

scientific article published on 01 November 1994

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

scientific article

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia

scientific article

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

scientific article published in 2021

Dystonia: clinical features, genetics, and treatment

scientific article

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

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

scientific article (publication date: November 2002)

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study

scientific article

Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.

scientific article published in March 2000

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

scientific article

Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.

scientific article published in October 2004

Exclusion of familial dysautonomia from more than 60% of the genome

scientific article

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

scientific article published in December 2002

Expanded genetic screening panel for the Ashkenazi Jewish population.

scientific article published on 3 September 2015

Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example

scientific article published on 19 September 2020

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

scientific article

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

scientific article published on 04 January 2010

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

scientific article published on 16 August 2019

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

scientific article

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1)

scientific article

Frequency of parkin mutations in late-onset Parkinson's disease.

scientific article published in September 2003

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

scientific article published on 5 December 2016

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

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy

scientific article

GNAL mutation in isolated laryngeal dystonia

scientific article published on February 2016

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

scientific article

Gender differences in the risk of familial parkinsonism: beyond LRRK2?

scientific article

Genetic analysis of three patients with an 18p- syndrome and dystonia

scientific article published in February 1999

Genetic and clinical features of primary torsion dystonia

scientific article

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia ⬇️

scientific article published on October 15, 2010

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family

scientific article

Genetic heterogeneity in ten families with myoclonus-dystonia.

scientific article

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

article

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects

scientific article published in January 1999

Genetics of Dystonia ⬇️

scientific article published on January 21, 2012

Genetics of primary dystonia

scientific article

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

scientific article

Genotype-structure-phenotype relationships diverge in paralogs , , and

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia

scientific article

Hereditary myoclonus-dystonia associated with epilepsy

scientific article (publication date: 24 June 2003)

Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites

scientific article

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

scientific article

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

scientific article published on 28 April 2018

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

scientific article published on 24 April 2006

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

scientific article

Inherited myoclonus-dystonia

scientific article

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

scientific article published on 01 December 2004

Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives

scientific article

Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm

scientific article published on 01 March 2002

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

scientific article published on 27 April 2007

Isolated Cervical Dystonia: Management and Barriers to Care

scientific article published on 27 November 2020

Isolated dystonia: clinical and genetic updates

scientific article published on 27 November 2020

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

scientific article

LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease

scientific article

LRRK2 G2019S mutations may be increased in Puerto Ricans ⬇️

scientific article published on March 29, 2011

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

scientific article published on 01 December 1987

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

scientific article (publication date: November 1999)

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

scientific article published in June 1993

Metabolic changes in DYT11 myoclonus-dystonia

scientific article published on 2 January 2013

Milestones in dystonia ⬇️

scientific article published on May 1, 2011

Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations

scientific article published on 03 November 2020

Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.

scientific article published in July 2002

Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling

scientific article published on 01 July 2018

Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat.

scientific article published in May 2002

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Mood and cognition in leucine‐rich repeat kinase 2 G2019S Parkinson's disease ⬇️

scientific article published on May 24, 2011

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene

scientific article published on 01 October 2002

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function

scientific article published on 15 May 2020

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

scientific journal article

Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia ⬇️

scientific article published on June 14, 2011

Mutations in DYT1: extension of the phenotypic and mutational spectrum

scientific article published in February 2004

Mutations in GNAL cause primary torsion dystonia

scientific article

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

scientific article published in April 2009

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

scientific article published on April 2009

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

scientific article published on 24 January 2018

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

scientific article

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

scientific article

Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome

scientific article

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

scientific article published in January 2002

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

scientific article published on 01 February 2007

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

scientific article published in April 2004

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

Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

scientific article

Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation

scientific article published on 11 December 2020

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

scientific article published on 30 July 2020

Neuropsychiatric characteristics of GBA-associated Parkinson disease

scientific article

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

scientific article

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

scientific article published on 24 April 2012

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

scientific article published on 21 March 2015

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia

scientific article published on 01 June 2007

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

scientific article

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

scientific article

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

scientific article published on 22 March 2021

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene

scientific article published on April 2007

Olfactory dysfunction in LRRK2 G2019S mutation carriers ⬇️

scientific article published on July 13, 2011

Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?

scientific article

Pallidal deep brain stimulation for DYT6 dystonia

scientific article published on 23 September 2011

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

scientific article published in July 2000

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

scientific article published on 15 October 2013

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience

scientific article published on 8 December 2017

Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

scientific article published on 10 February 2017

Phenotypic features of myoclonus-dystonia in three kindreds

scientific article published in October 2002

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

scientific article published on 01 March 2008

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

scientific article published on 01 March 2002

Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity

scientific article published on 19 November 2016

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

Progression in the LRRK2-Asssociated Parkinson Disease Population

scientific article published on 8 January 2018

Psychiatric disorders in rapid-onset dystonia-parkinsonism ⬇️

scientific article published on August 29, 2012

REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers

scientific article

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of <i>ATP1A3</i> in Patients Across 3 Global Populations

scientific article published in 2021

Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.

scientific article published on 30 December 2014

Rapid-onset dystonia-parkinsonism

scientific article published on 01 December 1993

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

scientific article

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

scientific article

Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families

scientific article published on 01 January 1998

Rapid-onset dystonia-parkinsonism: case report

scientific article published in March 2010

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

scientific article (publication date: August 1999)

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

scientific article

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

scientific article

Responsiveness to levodopa in epsilon-sarcoglycan deletions

scientific article published in February 2009

Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing

scientific article published on 30 July 2019

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

scientific article published on 01 May 2002

SGCE Myoclonus-Dystonia

scientific article published on 8 August 2019

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

scientific article published on 14 December 2020

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

scientific article published on 01 December 2010

Screening study of TUBB4A in isolated dystonia

scientific article published on 10 June 2017

Search for a founder mutation in idiopathic focal dystonia from Northern Germany

scientific article

Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany

scientific article published on 01 July 1999

Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort

scientific article published on 25 June 2020

Secondary dystonia and the DYTI gene

scientific article published on 01 June 1997

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

scientific article

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews ⬇️

scientific article published on March 1, 1992

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

scientific article

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

scientific article

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-Linked Dystonia-Parkinsonism

scientific article published on 25 September 2020

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.

scientific article published on 19 May 2017

THAP1: role in focal dystonia?

scientific article published on 01 January 2010

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

scientific article published in September 1994

The DYT1 mutation and nonfamilial primary torsion dystonia

scientific article published on 01 April 2001

The DYT1 phenotype and guidelines for diagnostic testing

scientific article

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia

scientific article

The R98Q variation in DJ-1 represents a rare polymorphism

scientific article published on 01 January 2004

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

scientific article

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

scientific article published on September 1, 1997

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia

scientific article

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family

scientific article published on January 1, 1998

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

scientific article published on 01 August 2001

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

scientific article

The parkin gene is not involved in late-onset Parkinson's disease

scientific article published on 01 March 2002

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

scientific article

The role of the DYT1 gene in secondary dystonia

scientific article published on January 1, 1998

The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans

scientific article published in April 2002

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

scientific article published on 08 April 2022

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

scientific article

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

scientific article published in February 2003

TorsinB--perinuclear location and association with torsinA

scientific article

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease

scientific article published on 10 October 2012

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

scientific article published on February 15, 2012

Variants associated with Gaucher disease in multiple system atrophy

scientific article

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

scientific article

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

scientific article (publication date: April 2013)

X-Linked Dystonia-Parkinsonism: recent advances

scientific article published on 01 August 2019

[Genetics of dystonia]

scientific article published on 01 June 2000

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