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Lista de obras de Roy N Alcalay

A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design

scientific article published on 15 June 2020

A surprising cause of sinusitis

artículo científico publicado en 2007

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Alpha galactosidase A activity in Parkinson's disease

artículo científico publicado en 2018

An Assessment of LRRK2 Serine 935 Phosphorylation in Human Peripheral Blood Mononuclear Cells in Idiopathic Parkinson's Disease and G2019S LRRK2 Cohorts

scientific article published on 28 January 2020

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease

artículo científico publicado en 2020

Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease

scientific article published on 24 September 2020

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

artículo científico publicado en 2020

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 of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation

artículo científico publicado en 2018

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

scientific article published on 31 October 2020

Authors' replies to the comments of Koga et al. on "Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease"

scientific article published on 05 September 2020

CSF β-Amyloid 1-42 Predicts Progression to Cognitive Impairment in Newly Diagnosed Parkinson Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Cerebrospinal fluid proteomics implicates the granin family in Parkinson's disease

artículo científico publicado en 2020

Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson's disease Features

artículo científico publicado en 2017

Classification of GBA Variants and Their Effects in Synucleinopathies

scientific article published on 01 October 2019

Clinical Characteristics of Patients with Parkinson's Disease and Essential Tremor Undergoing Deep Brain Stimulation Surgery at Columbia University Medical Center (2009-2014).

artículo científico publicado en 2016

Clinical Features of LRRK2 Carriers with Parkinson's Disease

artículo científico publicado en 2017

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 Pathological Characteristics of LRRK2 G2019S Patients with PD ⬇️

artículo científico publicado el 23 de diciembre de 2011

Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers

artículo científico publicado en 2017

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

artículo científico publicado en 2015

Clinical vignettes in Parkinson's disease: a collection of unusual medication-induced hallucinations, delusions, and compulsive behaviours

artículo científico publicado en 2011

Cognition among individuals along a spectrum of increased risk for Parkinson's disease

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

artículo científico publicado en 2012

Common and rare GCH1 variants are associated with Parkinson's disease

scientific article published on 15 September 2018

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes

artículo científico publicado en 2014

Correction: Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

scientific article published on 01 February 2020

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

scholarly article by Kunal C Potnis published in December 2018

Cytokines as Potential Biomarkers of Parkinson Disease

artículo científico publicado en 2016

Early-onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation

artículo científico publicado en 2020

Elevated GM3 plasma concentration in idiopathic Parkinson's disease: A lipidomic analysis

artículo científico publicado en 2017

Elevated In Vitro Kinase Activity in Peripheral Blood Mononuclear Cells of Leucine-Rich Repeat Kinase 2 G2019S Carriers: A Novel Enzyme-Linked Immunosorbent Assay-Based Method

artículo científico publicado en 2020

Emerging Targeted Therapeutics for Genetic Subtypes of Parkinsonism

scientific article published on 10 September 2020

Erratum: T cells from patients with Parkinson's disease recognize α-synuclein peptides

artículo científico publicado en 2017

Essential tremor-Parkinson's disease: A double whammy

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

Frequency of GBA variants in autopsy-proven multiple system atrophy

artículo científico publicado en 2017

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

artículo científico publicado en 2018

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

artículo científico publicado en 2010

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2015

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

artículo científico publicado en 2016

GBA-Associated Parkinson's Disease and Other Synucleinopathies

scholarly article by Ziv Gan-Or et al published 8 June 2018 in Current Neurology and Neuroscience Reports

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

artículo científico publicado en 2015

Genetic Forms of Parkinson's Disease

artículo científico

Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease

artículo científico publicado en 2016

Genetic markers of Restless Legs Syndrome in Parkinson disease

artículo científico publicado en 2015

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

artículo científico publicado en 2020

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

scientific article published on 04 November 2019

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

scientific article published on 18 November 2019

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

artículo científico publicado en 2015

Higher Urine bis(Monoacylglycerol)Phosphate Levels in LRRK2 G2019S Mutation Carriers: Implications for Therapeutic Development

scientific article published on 10 September 2019

Impact of the COVID-19 Pandemic on Parkinson's Disease and Movement Disorders

scientific article published on 16 April 2020

Impact of the COVID-19 pandemic on Parkinson's disease and movement disorders

scientific article published on 06 April 2020

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease

artículo científico publicado en 2018

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Intranasal administration of NAP, a neuroprotective peptide, decreases anxiety-like behavior in aging mice in the elevated plus maze

artículo científico publicado en 2004

Knowledge and attitudes of Parkinson's disease risk in the Gaucher population

scientific article published on 30 October 2019

Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers ⬇️

artículo científico publicado el 9 de junio de 2013

Lack of association between cancer history and PARKIN genotype: A family based study in PARKIN/Parkinson's Families ⬇️

artículo científico publicado el 24 de agosto de 2012

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson's disease

scientific article published on 13 August 2020

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients

artículo científico publicado en 2020

MRI showing white matter lesions and multiple lobar microbleeds in a patient with reversible encephalopathy

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

Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Motor phenotype classification in moderate to advanced PD in BioFIND study

scientific article published on 23 June 2019

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

artículo científico publicado en 2009

Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease

scientific article published on 09 November 2019

Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy

artículo científico publicado en 2022

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor

artículo científico publicado en 2009

NAP accelerates the performance of normal rats in the water maze

scientific journal article

Neuralgic amyotrophy following botulinum toxin injection

artículo científico publicado en 2009

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

artículo científico publicado en 2017

Neuropsychiatric symptoms and cognitive abilities over the initial quinquennium of Parkinson disease

scientific article published on 13 April 2020

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

artículo científico publicado en 2010

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

Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia.

artículo científico publicado en 2013

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.

artículo científico publicado en 2009

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

Parkinson's disease prevalence in Fabry disease: A survey study

artículo científico publicado en 2017

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation

artículo científico publicado en 2013

Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Phenotype in patients with Gaucher disease and Parkinson disease ⬇️

artículo científico publicado el 20 de diciembre de 2012

Plasma apolipoprotein A1 associates with age at onset and motor severity in early Parkinson's disease patients.

artículo científico publicado en 2015

Postural and Intention Tremors: A Detailed Clinical Study of Essential Tremor vs. Parkinson’s Disease ⬇️

artículo científico publicado el 10 de mayo de 2013

Precision Medicine for Parkinson's Disease: Ambroxol for Glucocerebrosidase-Associated Parkinson's Disease, First Trial Completed

scientific article published on 07 May 2020

Precision medicine in Parkinson's disease: emerging treatments for genetic Parkinson's disease

scientific article published on 23 January 2020

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

artículo científico publicado en 2010

Prevalence and features of unreported dystonia in a family study of “pure” essential tremor ⬇️

artículo científico publicado el 23 de octubre de 2012

Prevalence of essential tremor in Araihazar, Bangladesh: a population-based study

artículo científico publicado en 2011

Progression in the LRRK2-Asssociated Parkinson Disease Population

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Ramsay Hunt syndrome in a patient with metastatic lung cancer to brain

artículo científico publicado en 2007

Reply to "PPP2R5D genetic mutations and early-onset parkinsonism"

artículo científico publicado en 2020

Reply to letter: Plasma fasting cholesterol profiles and age at onset in Parkinson's disease

artículo científico publicado en 2015

SCARB2 variants and glucocerebrosidase activity in Parkinson's disease

artículo científico publicado en 2016

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

scholarly article by Bouchra Ouled Amar Bencheikh et al published 2 July 2018 in Neurobiology of Aging

Ser(P)-1292 LRRK2 in urinary exosomes is elevated in idiopathic Parkinson's disease

artículo científico publicado en 2016

Serum lipid alterations in GBA-associated Parkinson's disease.

artículo científico publicado en 2017

Sleep disorders and Parkinson disease; lessons from genetics

artículo científico publicado en 2018

Somatic mitochondrial DNA mutations and parkinsonism ⬇️

artículo científico publicado el 1 de noviembre de 2012

T cells from patients with Parkinson's disease recognize α-synuclein peptides

artículo científico publicado en 2017

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay

artículo científico publicado en 2017

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

artículo científico publicado en 2020

The "head snap": a subtle clinical feature during the finger-nose-finger maneuver in essential tremor ⬇️

artículo científico publicado el 18 de abril de 2013

The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort

artículo científico publicado en 2016

The NINDS Parkinson's disease biomarkers program

artículo científico publicado en 2015

The association between Mediterranean diet adherence and Parkinson's disease ⬇️

artículo científico publicado el 7 de febrero de 2012

The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease

artículo científico publicado en 2016

The emergence of Parkinson disease among patients with Gaucher disease

artículo científico

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

artículo científico publicado en 2015

The impact of COVID-19 and social distancing on people with Parkinson's disease: a survey study

artículo científico publicado en 2021

The neuropathology of genetic Parkinson's disease ⬇️

artículo científico publicado el 26 de marzo de 2012

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

artículo científico publicado en 2017

The relation between depression and parkin genotype: the CORE-PD study

artículo científico publicado en 2011

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

artículo científico publicado en 2014

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

artículo científico publicado en 2016

Transcriptional analysis of peripheral memory T cells reveals Parkinson's disease-specific gene signatures

artículo científico publicado en 2022

Transient exacerbation of ataxia with smoking: a prevalence survey

artículo científico publicado en 2009

Tremor severity and age: A cross‐sectional, population‐based study of 2,524 young and midlife normal adults ⬇️

artículo científico publicado el 25 de marzo de 2011

Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.

artículo científico publicado en 2016

Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.

artículo científico publicado en 2016

Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training

artículo científico publicado en 2013

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

artículo científico publicado en 2020

Widespread Tau-Specific CD4 T Cell Reactivity in the General Population

artículo científico publicado en 2019

α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease

artículo científico publicado en 2014

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