Lista de obras - Rachel Saunders-Pullman - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Association Between Progranulin and Gaucher Disease

artículo científico publicado en 2016

Atypical presentation of late-onset Tay-Sachs disease

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Clinical expression of LRRK2 G2019S mutations in the elderly

artículo científico publicado en 2010

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de junio de 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 2012

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

artículo científico publicado el 26 de febrero de 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2016

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado el 15 de octubre de 2010

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

artículo científico publicado en 2014

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Inherited myoclonus-dystonia

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

LRRK2 G2019S mutations may be increased in Puerto Ricans ⬇️

artículo científico publicado el 29 de marzo de 2011

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Metabolic changes in DYT11 myoclonus-dystonia

artículo científico publicado en 2013

Metabolomic profiling to develop blood biomarkers for Parkinson's disease

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado el 24 de mayo de 2011

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

artículo científico publicado en 2016

Movement disorders and alcohol misuse

artículo científico publicado en 2006

Mutations in GNAL cause primary torsion dystonia

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Neuropsychiatric characteristics of GBA-associated Parkinson disease

artículo científico publicado en 2016

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Pallidal deep brain stimulation for DYT6 dystonia

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Penetrance and expression of dystonia genes

artículo científico publicado el 1 de enero de 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Primary dystonia: moribund or viable

artículo científico

Progression in the LRRK2-Asssociated Parkinson Disease Population

artículo científico publicado en 2018

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Responsiveness to levodopa in epsilon-sarcoglycan deletions

artículo científico publicado en 2009

Secondary orthostatic tremor in the setting of cerebellar degeneration

artículo científico publicado en 2016

Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

artículo científico publicado en 2017

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

artículo científico publicado el 17 de septiembre de 2012

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities ⬇️

artículo científico publicado el 1 de septiembre de 2012

Substance abuse and movement disorders

artículo científico publicado en 2009

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

artículo científico publicado en 2010

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

artículo científico publicado en 2011

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism ⬇️

artículo científico publicado el 1 de agosto de 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Lista de obras de 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

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

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

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

Association Between Progranulin and Gaucher Disease

Atypical presentation of late-onset Tay-Sachs disease

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

Clinical expression of LRRK2 G2019S mutations in the elderly

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

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

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

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

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

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

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

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

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

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

Finding useful biomarkers for Parkinson's disease

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

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

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

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

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

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease

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

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

Inherited myoclonus-dystonia

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

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

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

LRRK2 G2019S mutations may be increased in Puerto Ricans ⬇️

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

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

Metabolic changes in DYT11 myoclonus-dystonia

Metabolomic profiling to develop blood biomarkers for Parkinson's disease

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

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

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

Movement disorders and alcohol misuse

Mutations in GNAL cause primary torsion dystonia

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

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

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

Neuropsychiatric characteristics of GBA-associated Parkinson disease

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

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

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

Pallidal deep brain stimulation for DYT6 dystonia

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

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

Penetrance and expression of dystonia genes

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

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

Primary dystonia: moribund or viable

Progression in the LRRK2-Asssociated Parkinson Disease Population

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

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

Responsiveness to levodopa in epsilon-sarcoglycan deletions

Secondary orthostatic tremor in the setting of cerebellar degeneration

Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

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

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities ⬇️

Substance abuse and movement disorders

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism ⬇️

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

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

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

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