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List of works by Susan Bressman

A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers

scientific article published on 11 July 2016

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

scientific journal article

A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia

scientific article published on 17 May 2003

A new screening tool for cervical dystonia.

scientific article

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

scientific article published in February 1994

A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers

article

Age at onset as a factor in determining the phenotype of primary torsion dystonia

scientific article published on 01 October 2004

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

scientific article published on 10 June 2015

Analysis of blink rate patterns in normal subjects

scientific article published in November 1997

Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia

scientific article

Anti-Tumor Necrosis Factor Therapy and Incidence of Parkinson Disease Among Patients With Inflammatory Bowel Disease

scientific article published on 01 August 2018

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

scientific article published on 30 March 2018

Arm swing as a potential new prodromal marker of Parkinson's disease

scientific article published on 19 July 2016

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

scientific article published on 07 May 2020

Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls

scientific article published on 26 July 2019

Cerebellothalamocortical connectivity regulates penetrance in dystonia

scientific article

Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism

scientific article published in December 2012

Cervical dystonia incidence and diagnostic delay in a multiethnic population

scientific article published on 27 November 2019

Classification of dystonia

scientific article published on 01 January 1998

Clinical and Dopamine Transporter Imaging Characteristics of Leucine- Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study

scientific article published on 19 February 2020

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

scientific article published on 31 October 2019

Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

scientific article

Clinical expression of LRRK2 G2019S mutations in the elderly

scientific article

Clinical findings of a myoclonus-dystonia family with two distinct mutations

scientific article published on 01 October 2002

Clinical-genetic spectrum of primary dystonia

scientific article published on 01 January 1998

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

scientific article

Cognitive and motor function in long-duration PARKIN-associated Parkinson disease

scientific article published on January 2014

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

scientific article published in July 2017

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

scientific article published in February 2004

DYT1 dystonia increases risk taking in humans

scientific article published on June 2016

DaT-SPECT assessment depicts dopamine depletion among asymptomatic G2019S LRRK2 mutation carriers

scientific article

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

Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

scientific article

Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation

scientific article published on 10 December 2018

Delayed-onset cerebellar syndrome

scientific article published on 01 May 1996

Delayed-onset dystonia due to perinatal or early childhood asphyxia

scientific article published in February 1991

Diagnosis and Referral Delay in Women With Parkinson's Disease ⬇️

scientific article published on June 1, 2011

Diagnostic criteria for dystonia in DYT1 families

scientific article published on 01 December 2002

Differential effects of severe vs mild GBA mutations on Parkinson disease

scientific article

Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson's Disease

scientific article

Digitized spiral analysis may be a potential biomarker for brachial dystonia

scientific article published on 20 July 2018

Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations

scientific article published on 7 May 2015

Disruption of network for visual perception of natural motion in primary dystonia

scientific article published on 6 December 2017

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

scientific article published in October 2004

Dominantly transmitted focal dystonia in families of patients with musician's cramp

scientific article

Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells

scientific article published on 14 September 2021

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34

scientific article published on 01 February 1990

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

scientific article published on 01 November 1994

Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data

scientific article

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

scientific article (publication date: November 2002)

Estimation of genetic risk function with covariates in the presence of missing genotypes

scientific article

Etiology of musician's dystonia: familial or environmental?

scientific article

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

scientific article published on 01 April 2002

Evidence for increased completed suicide in first-degree relatives of G2019S mutation Parkinson's disease

scientific article published on 08 November 2018

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome

scientific article published in June 2009

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia

scientific article published on 01 November 1994

Exclusion of the DYT1 locus in familial torticollis

scientific article published on 01 October 1996

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

Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.

scientific article

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

scientific article

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study

scientific article published in September 2010

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 brain networks in DYT1 dystonia

scientific article published in September 1998

Functional electrical stimulation for the treatment of lower extremity dystonia

scientific article published on 05 October 2011

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

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

scientific article

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

scientific article

Gender differences in the IL6 −174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease ⬇️

scientific article published on January 11, 2012

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

scientific article

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 linkage analysis in primary torsion dystonia

scientific article published on 01 November 1984

Genetics and pharmacological treatment of dystonia

scientific article published on January 2011

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

scientific article

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease

scientific article published on 5 February 2016

Head injury, α-synuclein Rep1, and Parkinson's disease

scientific article published on January 2012

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

scientific article

Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease.

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

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis

scientific article

Human gene for torsion dystonia located on chromosome 9q32-q34.

scientific article

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred

scientific article

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

scientific article

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families ⬇️

scientific article published on October 1, 1997

Impaired sequence learning in carriers of the DYT1 dystonia mutation

scientific article published in July 2003

Impaired sequence learning in dystonia mutation carriers: a genotypic effect

scientific article

Inclusion and exclusion criteria for DBS in dystonia ⬇️

scientific article published on June 1, 2011

Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study

scientific article

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

Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study

scientific article

Increased substantia nigra echogenicity in LRRK2 family members without mutations

scientific article published on 25 August 2018

Inheritance of idiopathic torsion dystonia among Ashkenazi Jews

scientific article published on 01 January 1988

Inherited myoclonus-dystonia

scientific article

Intact working memory in non-manifesting LRRK2 carriers--an fMRI study

scientific article published on 4 November 2015

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

scientific article

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

scientific article published on 27 April 2007

Intrathecal baclofen in the treatment of dystonia

scientific article published on 01 January 1998

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

LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks

scientific article published on 09 December 2019

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms

scientific article published on 01 May 1986

Linkage studies in families with dystonia: linkage analysis as a tool to locate and characterize the gene(s) for dystonia

scientific article published on 01 January 1988

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

scientific article (publication date: November 1999)

Low-variance RNAs identify Parkinson's disease molecular signature in blood

scientific article published on 18 March 2015

Lower cognitive performance in healthy G2019S LRRK2 mutation carriers

scientific article

Metabolic changes in DYT11 myoclonus-dystonia

scientific article published on 2 January 2013

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

scientific article

Microstructural white matter changes in carriers of the DYT1 gene mutation

scientific article published on 01 August 2004

Microstructural white matter changes in primary torsion dystonia

scientific article published on January 2008

Milestones in dystonia ⬇️

scientific article published on May 1, 2011

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

scientific article published on May 24, 2011

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease

scientific article

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) in early-onset dystonia: a genetic screening study

scientific article published on April 2009

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

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

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

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

scientific article published in September 2007

Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers

scientific article

Neuropsychiatric characteristics of GBA-associated Parkinson disease

scientific article

Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study

scientific article

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

scientific article

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

scientific article published on 21 March 2015

Nonsteroidal Anti-Inflammatory Use and LRRK2 Parkinson's Disease Penetrance

scientific article published on 14 July 2020

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

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

Occupation and risk of parkinsonism: a multicenter case-control study

scientific article

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

Pallidal deep brain stimulation for primary dystonia in children

scientific article published on March 2011

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

scientific article published on 15 October 2013

Parkinsonism, dystonia, and hemiatrophy

scientific article published on 01 May 2000

Paroxysmal non-kinesigenic dystonia

scientific article published on 01 January 1988

Penetrance and expression of dystonia genes

scientific article published on January 1, 2004

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

scientific article

Peptidoglycan recognition protein genes and risk of Parkinson's disease

scientific article

Phenomenology and classification of dystonia: a consensus update

scientific article

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

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 spectrum of musician's dystonia: a task-specific disorder?

scientific article

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

scientific article published in November 2004

Pre-operative evaluations for DBS in dystonia

scientific article

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study

scientific article published in June 2010

Primary dystonia: is abnormal functional brain architecture linked to genotype?

scientific article published in December 2002

Primary dystonia: moribund or viable

scientific article published on June 2013

Primary torsion dystonia: the search for genes is not over.

scientific article published in September 1999

Progression in the LRRK2-Asssociated Parkinson Disease Population

scientific article published on 8 January 2018

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

scientific article

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

scientific article

Rapid-onset dystonia-parkinsonism in a second family.

scholarly article by A Brashear et al published 1997 in Neurology

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

scientific article (publication date: August 1999)

Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers

scientific article

Reply: Dystonia after severe head injuries

Research priorities in spasmodic dysphonia

scientific article

Secondary dystonia and the DYTI gene

scientific article published on 01 June 1997

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance

scientific article

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

scientific article

Sensory abnormalities in unaffected relatives in familial adult-onset dystonia

scientific article

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

scientific article

Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

scientific article published on 19 October 2017

Sixty hertz pallidal deep brain stimulation for primary torsion dystonia

scientific article published in August 2007

Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers ⬇️

scientific article published on September 17, 2012

Speech dysfunction in early Parkinson's disease

scientific article

State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis

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

THAP1: role in focal dystonia?

scientific article published on 01 January 2010

Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia

scientific article

The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease

scientific article published on 2 August 2015

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 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 emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

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 metabolic pathology of dopa-responsive dystonia

scientific article published in April 2005

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

scientific article

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

scientific article

The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study

scientific article

The role of the DYT1 gene in secondary dystonia

scientific article published on January 1, 1998

The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia

scientific article

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease

scientific article published on 10 October 2012

Treatment of generalized dystonia

scientific article

Use of intrathecal baclofen in the treatment of patients with dystonia

scientific article published on 01 December 1996

Validity and reliability of a rating scale for the primary torsion dystonias

scientific article published on 01 January 1985

Validity of spiral analysis in early Parkinson's disease

scientific article published on 01 March 2008

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

scientific article published on February 15, 2012

When to Start Levodopa Therapy for Parkinson's Disease

scientific article published on 01 January 2019

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