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List of works by Ryan J Uitti

A Consensus Set of Outcomes for Parkinson's Disease from the International Consortium for Health Outcomes Measurement

scientific article

A curious case of DBS radiofrequency programmer interference

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

scientific article

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

scientific article published on 11 October 2018

Abnormal daytime sleepiness in dementia with Lewy bodies compared to Alzheimer's disease using the Multiple Sleep Latency Test

scientific article

Alterations of T-lymphocyte populations in Parkinson disease

scientific article

Amantadine treatment is an independent predictor of improved survival in Parkinson's disease

scientific article published in June 1996

Analysis of COQ2 gene in multiple system atrophy

scientific article

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

scientific article

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

scientific article published on 18 October 2012

Anatomy of disturbed sleep in pallido-ponto-nigral degeneration

scientific article published on June 2011

Angiogenin variation and Parkinson disease

scientific article published in May 2012

Aprataxin (APTX) gene mutations resembling multiple system atrophy

article

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

scientific article published on 25 November 2015

Association of pyridoxal kinase and Parkinson disease

scientific article published in March 2010

Association study between multiple system atrophy and TREM2 p.R47H

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

Atypical Parkinsonism and SCA8

scholarly article by Yasuhiko Baba et al published September 2006 in Parkinsonism and Related Disorders

Atypical progressive supranuclear palsy with corticospinal tract degeneration

scientific article

Autosomal dominant Parkinson's disease

scientific article published on January 2012

Biomarkers in Parkinson's disease: Advances and strategies

scientific article published on 30 September 2015

Biomarkers of Nonmotor Symptoms in Parkinson's Disease

scientific article published on 27 June 2017

Brain imaging to assess the effects of dopamine agonists on progression of Parkinson disease

scientific article

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

scientific article published on March 2009

Cancer in Parkinson's disease

scientific article published on 20 June 2016

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

scientific article published on 3 February 2016

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family

scientific article

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

scientific article published in September 2006

Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation).

scientific article published on 29 December 2006

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

scientific article

Coexistence of PSP and MSA: a case report and review of the literature

scientific article

Cognitive impairment in progressive supranuclear palsy is associated with tau burden

scientific article published on 30 October 2017

Cognitive profile of LRRK2-related Parkinson's disease

scientific article

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

scientific article published on 21 August 2008

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

scientific article

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

scientific article published on March 2006

Correlation of clinical findings and results of percutaneous balloon compression for patients with trigeminal neuralgia ⬇️

scientific article published on January 1, 2011

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

DJ-1 and αSYN in LRRK2 CSF do not correlate with striatal dopaminergic function

scientific article published on 21 October 2011

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

scientific article published on 12 June 2009

Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism

scientific article published on 24 June 2016

Deep brain stimulation lead fixation: a comparative study of the Navigus and Medtronic burr hole fixation device

scientific article published on 15 December 2004

Deep brain stimulation: preoperative issues

scientific article published on June 2006

Defining the Parkinson's disease phenotype: initial symptoms and baseline characteristics in a clinical cohort

scientific article published in May 2005

Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy

scientific article published on 23 December 2016

Dopamine agonists, sleep disorders, and driving in Parkinson's disease.

scientific article

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

scientific article published on 22 August 2008

ELAVL4, PARK10, and the Celts

article

Early detection of Parkinson's disease. Implications for treatment

scientific article published on September 1996

Essential tremor: phenotypic expression in a clinical cohort

scientific article published on 8 February 2007

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

scientific article

Evaluation of the role of SNCA variants in survival without neurological disease

scientific article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus

scientific article published on 19 June 2015

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

scientific article

Familial progressive supranuclear palsy: a literature review

scientific article published on 24 September 2013

Fine-mapping and candidate gene investigation within the PARK10 locus

scientific article

Fragile X-associated tremor/ataxia syndrome and movements disorders

scientific article

Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation

scientific article published in February 2007

GCH1 in early-onset Parkinson's disease.

scientific article

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

scientific article

Gender and the Parkinson's disease phenotype

scientific article published on 12 September 2005

Genetic factors influencing age at onset in LRRK2-linked Parkinson disease

scientific article published on 28 November 2008

Genetic variants of α-synuclein are not associated with essential tremor

scientific article published on 24 October 2011

Genetic variation of Omi/HtrA2 and Parkinson's disease

scientific article published on 14 September 2008

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

scientific article

Genetics of restless legs syndrome

scientific article

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

scientific article published on 16 June 2015

Genomewide association, Parkinson disease, and PARK10

scientific article published on June 2006

Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications

scientific article

Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred

scientific article published on 8 March 2006

Hereditary tauopathies and parkinsonism

scientific article

Heredofamilial brain calcinosis syndrome

scientific article

High-throughput mutational analysis of TOR1A in primary dystonia

scientific article

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

scientific article

Human leukocyte antigen variation and Parkinson's disease

scientific article

Hypersexuality with Antiparkinsonian Therapy

scientific article published on 01 October 1989

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

scientific article published on 8 March 2007

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Incidental Lewy body disease and preclinical Parkinson disease

scientific article published on August 2008

Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome

scientific article published in August 2005

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

International association of Parkinsonism & Related Disorders--Annual Report 2013.

scientific article published on 12 February 2014

Investigating FUS variation in Parkinson's disease

scientific article published on January 2014

Investigating the role of FUS exonic variants in essential tremor

scientific article published on 16 April 2013

Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder.

scientific article

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

scientific article

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

scientific article

LRRK2 (Leucine-Rich Repeat Kinase 2) Gene on PARK8 Locus in Families with Parkinsonism

article

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

LRRK2 gene and tremor-dominant parkinsonism

scientific article published in September 2006

LRRK2 variation and dementia with Lewy bodies

scientific article published on 29 July 2016

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

Levodopa and deprenyl treatment effects on peripheral indices of oxidant stress in Parkinson's disease.

scientific article published on 01 March 1996

Loss of ability to work and ability to live independently in Parkinson’s disease ⬇️

scientific article published on 04 October 2011

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

scientific article published on 7 June 2016

MAPT haplotype diversity in multiple system atrophy

scientific article published on 16 June 2016

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

scientific article

Magnetic resonance imaging and deep brain stimulation

scientific article published in December 2002

Message from the Editors to our Reviewers

Message from the Editors to our Reviewers.

scientific article published in July 2017

Message from the Editors to our Reviewers.

scientific article

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

scientific article published on 29 September 2010

Multiple system atrophy and apolipoprotein E.

scientific article published on 14 February 2018

Mutations in CIZ1 cause adult onset primary cervical dystonia

scientific article published on 23 March 2012

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

scientific article (publication date: 18 November 2004)

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

scientific article

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

scientific article published on February 2007

Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

scientific article published on 20 September 2011

Neuropsychological differentiation of dementia with Lewy bodies from normal aging and Alzheimer's disease

scientific article published in December 2006

Nonamnestic mild cognitive impairment progresses to dementia with Lewy bodies

scientific article

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

scientific article published on February 2014

Occurrence of Crohn's disease with Parkinson's disease.

scientific article published on 10 February 2017

PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation

scientific article published on 4 August 2005

Parkinson's disease and issues related to driving

scientific article published on December 2009

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

scientific article published on 17 June 2013

Parkinsonism, FXTAS, and FMR1 premutations

scientific article published in February 2005

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis ⬇️

scientific article published on November 12, 2010

Phactr2 and Parkinson's disease

scientific article published on 10 February 2009

Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

scientific article

Phenotypic commonalities in familial and sporadic Parkinson disease

scientific article

Plasma catechols and monoamine oxidase metabolites in untreated Parkinson's and Alzheimer's diseases

scientific article published on March 1996

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

scientific article

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Profile of cognitive impairment and underlying pathology in multiple system atrophy

scientific article published on 15 November 2016

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

article

Progressive supranuclear palsy: phenotypic sex differences in a clinical cohort

scientific article published in May 2006

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

scientific article published on 24 March 2016

Rasagiline, Parkinson neuroprotection, and delayed-start trials: still no satisfaction?

scientific article published on April 2010

Reader response: The laser shoes: A new ambulatory device to alleviate freezing of gait in Parkinson disease

article

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Reply to Drs. Olanow and Rascol

scientific article published on April 2010

Reported mutations inGIGYF2are not a common cause of Parkinson's disease

scholarly article by Carles Vilariño-Güell et al published 15 March 2009 in Movement Disorders

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

scientific article published on 22 July 2011

SLC1A2 rs3794087 does not associate with essential tremor

scientific article

Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies

scientific article published on 20 March 2017

Sporadic SCA8 mutation resembling corticobasal degeneration

TARDBP mutations in Parkinson's disease

scientific article

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

scientific article published on 21 June 2013

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

scientific article published on 14 July 2016

TRIO gene segregation in a family with cerebellar ataxia

article

Tandem deep brain stimulation – Challenging new structural targets for Parkinson's disease ⬇️

scientific article published on January 1, 2012

Thalamic DBS with a constant-current device in essential tremor: A controlled clinical trial

scientific article published on 30 March 2017

The Effect of tau genotype on clinical features in FTDP-17

article

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

scientific article

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

scientific article

The current therapies for parkinson's disease. Part I: pharmacological treatment

scientific article published on May 1, 2003

The limbic and neocortical contribution of α-synuclein, tau, and amyloid β to disease duration in dementia with Lewy bodies

scientific article

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

scientific article

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

Treatment of Parkinson's disease: focus on quality of life issues ⬇️

scientific article published on January 1, 2012

Tremor in progressive supranuclear palsy

scientific article published on 22 March 2016

Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci

scientific article published in March 2003

Unilateral deep brain stimulation of the subthalamic nucleus for Parkinson disease

scientific article published in April 2007

Update on novel familial forms of Parkinson's disease and multiple system atrophy

scientific article published on January 2014

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 and DNAJC13 disease-causing variants in essential tremor

scientific article published on 13 August 2014

VPS35 mutations in Parkinson disease

scientific article

Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases

scientific article

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients

scientific article

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