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List of works by Rachel Saunders-Pullman

A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

scientific article

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

scientific article published on 10 June 2015

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

Association Between Progranulin and Gaucher Disease

scientific article

Atypical presentation of late-onset Tay-Sachs disease

scientific article

Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation

scientific article

Clinical expression of LRRK2 G2019S mutations in the elderly

scientific article

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

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

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

scientific article published on June 1, 2011

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

scientific article

Digitized spiral analysis is a promising early motor marker for Parkinson Disease

scientific article

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

scientific article published on 7 May 2015

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease ⬇️

scientific article published on June 1, 2012

Endogenous estradiol is associated with verbal memory in nondemented older men ⬇️

scientific article published on February 26, 2011

Estrogens and Parkinson disease: neuroprotective, symptomatic, neither, or both?

scientific article

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

scientific article published on 08 November 2018

Finding useful biomarkers for Parkinson's disease

article

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

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

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

scientific article published on October 15, 2010

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

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

scientific article

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

scientific article

Inherited myoclonus-dystonia

scientific article

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

scientific article

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

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

scientific article

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

scientific article published on 18 March 2015

Metabolic changes in DYT11 myoclonus-dystonia

scientific article published on 2 January 2013

Metabolomic profiling to develop blood biomarkers for Parkinson's disease

scientific article published in February 2008

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

scientific article

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

scientific article published on May 24, 2011

Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease

scientific article

Movement disorders and alcohol misuse

scientific article published on June 2006

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 THAP1 gene are responsible for DYT6 primary torsion dystonia

scientific article

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

scientific article published in September 2007

Neuropsychiatric characteristics of GBA-associated Parkinson disease

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

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

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

scientific article published on 15 October 2013

Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program

scientific article published on 23 June 2017

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

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

scientific article

Primary dystonia: moribund or viable

scientific article published on June 2013

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

Responsiveness to levodopa in epsilon-sarcoglycan deletions

scientific article published in February 2009

Secondary orthostatic tremor in the setting of cerebellar degeneration

scientific article published on 4 January 2016

Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

scientific article published on 19 October 2017

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

scientific article published on September 17, 2012

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities ⬇️

scientific article published on September 1, 2012

Substance abuse and movement disorders

scientific article published on September 2009

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

scientific article

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

scientific article

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism ⬇️

scientific article published on August 1, 2013

The complexities of hormonal influences and risk of Parkinson's disease

scientific article

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 prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies

scientific article

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