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List of works by Zbigniew K Wszolek

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

scientific article

A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation

scientific article published on 01 September 1995

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

scientific article

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

scientific article published on 25 July 2009

A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease

scientific article

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

scientific article

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

scientific article

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

scientific article

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration

scientific article published on 01 May 2000

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 novel approach to dementia: high-resolution 1H MRI of the human hippocampus performed at 21.1 T.

scientific article

A novel de novo pathogenic mutation in the CACNA1A gene

scientific article

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

scientific article

A novel tau mutation, p.K317N, causes globular glial tauopathy

scientific article published on 22 April 2015

A proteomic signature for dementia with Lewy bodies

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

scientific article

A susceptibility locus for Parkinson's disease maps to chromosome 2p13 ⬇️

scientific article published on March 1, 1998

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

scientific article published on 11 October 2018

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family

scientific article

APOE ε2 is associated with increased tau pathology in primary tauopathy

scientific article published in Nature Communications

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

scientific article published on 24 August 2018

APOE ε4/ε4 diminishes neurotrophic function of human iPSC-derived astrocytes

scientific article published on 21 April 2017

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

scientific article

Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred

scientific article

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

scientific article published on January 2002

Acute measles encephalitis in adults

scientific article published on 25 August 2005

Adult-onset leg dystonia due to a missense mutation in THAP1.

scientific article

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

scientific article published on 28 July 2018

Alpha-synuclein repeat variants and survival in Parkinson's disease

scientific article

Alterations of T-lymphocyte populations in Parkinson disease

scientific article

Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD

scientific article

An African–American family with dystonia ⬇️

scientific article published on May 20, 2011

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders

scientific article published on 14 September 2013

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

scientific article published on 30 January 2012

An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

scientific article published on 22 March 2006

An independent replication of PARK16 in Asian samples

scientific article

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

Annual report

scientific article published in January 2010

Anorectal function in fluctuating (on-off) Parkinson's disease: evaluation by combined anorectal manometry and electromyography

scientific article published on 01 September 1995

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease

scientific article published on 10 March 2014

Aprataxin (APTX) gene mutations resembling multiple system atrophy

article

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

scientific article

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

scientific article published on 01 January 2020

Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy

scientific article published on 22 October 2020

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

scientific article published on 29 August 2016

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

scientific article published on 30 August 2011

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

scientific article published on 01 June 2019

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

scientific article published on 25 November 2015

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

scientific article published on August 2010

Association of pyridoxal kinase and Parkinson disease

scientific article published in March 2010

Association of the MAPT locus with Parkinson's disease

scientific article

Association study between multiple system atrophy and TREM2 p.R47H

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

scientific article published on 2 May 2014

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

Atrophy of superior cerebellar peduncle in progressive supranuclear palsy.

scientific article published in June 2003

Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations

scientific article published on September 2009

Atypical Parkinsonian syndromes: a general neurologist's perspective

scientific article

Atypical Parkinsonism and SCA8

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

Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach

scientific article published on September 2012

Autosomal dominant Parkinson's disease

scientific article published on January 2012

Autosomal dominant Parkinson's disease caused by SNCA duplications

scientific article published on 3 September 2015

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics ⬇️

scientific article published on May 28, 2011

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics ⬇️

scientific article published on January 18, 2013

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family

scientific article published on 14 March 2008

Autosomal dominant dystonia-plus with cerebral calcifications

scientific article

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

scientific article

Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) ⬇️

scientific article published on January 1, 2001

Body mass index is reduced early in Parkinson's disease

scientific article published in January 2005

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers

scientific article published on 07 June 2019

Brain acetylcholinesterase activity in FTDP-17 studied by PET.

scientific article published in April 2006

Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images

scientific article

Brain calcification in a CSF1R mutation carrier precedes white matter degeneration

scientific article

Brain volumetric deficits in MAPT mutation carriers: a multisite study

scientific article published on 28 November 2020

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

scientific article published on March 2009

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

scientific article

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

CSF1R mutations link POLD and HDLS as a single disease entity

scientific article published on 13 February 2013

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies

scientific article published on 14 November 2018

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

Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers

scientific article

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

scientific article

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

scientific article

Clinical Aspects of Familial Forms of Frontotemporal Dementia Associated with Parkinsonism ⬇️

scientific article published on 08 June 2011

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome

scientific article published on February 2009

Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism

scientific article published on 23 March 2005

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

scholarly article by Y. Baba et al published 23 February 2007 in Journal of Neural Transmission

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

scientific article published in December 2002

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

scientific article published on 15 November 2011

Clinical and pathologic features of families with LRRK2-associated Parkinson's disease

scientific article

Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

scientific article published on 06 January 2020

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

scientific article

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 LRRK2 parkinsonism

scientific article

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

scientific article published in September 2006

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation

scientific article published in February 2003

Clinical genetics of Parkinson's disease and related disorders

scientific article published on January 2007

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia

scientific article

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up

scientific article published on June 2016

Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease

scientific article published on 04 April 2008

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

scientific article published on 29 December 2006

Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder

scientific article published on 07 March 2013

Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy

scientific article

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

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 variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

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

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease

scientific article published in August 2006

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

scientific article (publication date: February 2004)

Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort

scientific article published on 01 January 2020

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

scientific article published on March 2006

Concerning neuroprotective therapy for Parkinson's disease.

scientific article published on January 2006

Correction to: 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

scientific article published on 18 January 2020

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

Corticobasal syndrome with Alzheimer's disease pathology

scientific article

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

scientific article

DCTN1 mutations in Perry syndrome

scientific article

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy

scientific article published on 30 August 2017

DCTN1-related neurodegeneration: Perry syndrome and beyond

scientific article published on 12 June 2017

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

scientific article published on 21 October 2011

DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers

scientific article published on March 2007

DNAJC13 mutations in Parkinson disease

scientific article (publication date: April 2014)

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

scientific article

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

scientific article published on 12 June 2009

Danish-American family (family E) with 'Parkinson's Disease': Pitfalls of genetic studies

scientific article published in January 1996

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

scientific article

Deafness and cerebral plasticity.

scientific article published in September 2003

Death-associated protein kinase 1 variation and Parkinson's disease.

scientific article

Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism

scientific article published on 24 June 2016

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

scientific article published in May 2005

Diagnosis and Treatment of Common Forms of Tremor ⬇️

scientific article published on February 14, 2011

Diagnosis and management of Marchiafava-Bignami disease: a review of CT/MRI confirmed cases

scientific article

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

scientific article published on 15 September 2016

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

scientific article

Diaphragmatic Pacemaker for Perry Syndrome

scientific article published in February 2018

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

Distinctive MRI findings in pallidopontonigral degeneration (PPND).

scientific article

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

scientific article published on 23 December 2016

Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations

scientific article published on 29 November 2013

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

Dopamine turnover increases in asymptomatic LRRK2 mutations carriers

scientific article published on December 2010

ELAVL4, PARK10, and the Celts

article

Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation

scientific article published in June 2003

Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study

scientific article

Effect of MAPT and APOE on prognosis of progressive supranuclear palsy

article published in 2006

Elucidating the genetics and pathology of Perry syndrome

scientific article

Epileptiform electroencephalographic abnormalities in liver transplant recipients

scientific article published in July 1991

Essential tremor: phenotypic expression in a clinical cohort

scientific article published on 8 February 2007

Essential tremor: predictors of disease progression in a clinical cohort

scientific article

Establishing diagnostic criteria for Perry syndrome

scientific article published on 31 October 2017

Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies

scientific article

Evaluation of gastric emptying in familial and sporadic Parkinson disease

scientific article published on 17 May 2009

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

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

Extending the clinicopathological spectrum of neurofilament inclusion disease

scientific article published on 8 March 2005

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

scientific article

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

scientific article published on 16 August 2016

Familial Parkinson's disease and related conditions. Clinical genetics.

scientific article

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation

scientific article

Familial parkinsonism, dementia, and lewy body disease: Study of family G ⬇️

scientific article published on October 1, 1997

Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes

scientific article published on 18 September 2008

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

First appraisal of brain pathology owing to A30P mutant alpha-synuclein

scientific article published in May 2010

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

scientific article

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers

scientific article published on 17 July 2019

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

scientific article published in February 2007

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

scientific article

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration

scientific article published on 01 July 2001

Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family

scientific article

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

scientific article

GCH1 expression in human cerebellum from healthy individuals is not gender dependent

scientific article published on 30 June 2009

GCH1 in early-onset Parkinson's disease.

scientific article

GRN 3'UTR+78 C>T is not associated with risk for 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 Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories

scientific article

Genetic complexity and Parkinson's disease ⬇️

scientific article published on July 18, 1997

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

scientific article published on 28 November 2008

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

scientific article

Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes

scientific article published on 01 September 1994

Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes

scientific article published on 01 January 1996

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

scientific article

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

scientific article published on 01 January 2020

Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke ⬇️

scientific article published on 06 August 2012

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 Parkinson disease and essential tremor

scientific article published on August 2010

Genetics of Parkinson's disease: a review of SNCA and LRRK2.

scientific article published in January 2016

Genetics of restless legs syndrome

scientific article

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

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

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases ⬇️

scientific article published on February 28, 2012

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Glucocerebrosidase mutations in diffuse Lewy body disease

scientific article

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

Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease

scientific article published on January 2003

Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene

scientific article

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity

scientific article published on November 2011

Hereditary diffuse leukoencephalopathy with axonal spheroids: more than just a rare disease

scientific article published on 13 December 2013

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

scientific article

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

scientific article published on 8 March 2006

Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies ⬇️

scientific article published on July 26, 2010

Hereditary tauopathies and parkinsonism

scientific article

Heredofamilial brain calcinosis syndrome

scientific article

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

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

Hypertrophic olivary degeneration: A clinico-radiologic study

scientific article published on 12 April 2016

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

scientific article

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

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease

scientific article

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

scientific article

In vivo 18F-AV-1451 tau-PET signal in MAPT mutation carriers varies by expected tau isoforms

scientific article published on 9 February 2018

In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: a PET and MRI study

scientific article published on 10 May 2010

Incidental Lewy body disease and preclinical Parkinson disease

scientific article published on August 2008

Inclusion of RBD improves the diagnostic classification of dementia with Lewy bodies

scientific article

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

scientific article

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

scientific article published on 06 January 2020

Insights into LRRK2-Mutation Related PD from PET Imaging Studies

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

scientific article

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

scientific article published on January 2010

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

Iron and reactive oxygen species activity in parkinsonian substantia nigra

scientific article published on 9 March 2010

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

scientific article

Japanese family with parkinsonism, depression, weight loss, and central hypoventilation

scientific article published in April 2002

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 Parkinson's disease in African Americans

scientific article

LRRK2 variation and dementia with Lewy bodies

scientific article published on 29 July 2016

LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).

scientific article

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

scientific article

Large paraspinal and iliopsoas muscle hematomas

scientific article (publication date: August 2005)

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency

scientific article published on 06 February 2014

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

scientific article published on 26 July 2012

Letter to the Readership of the Polish Journal of Neurology and Neurosurgery

scientific article published on 22 January 2018

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease

scientific article

Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation

scientific article

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

scientific article published on June 2009

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

scientific article published on 01 January 1996

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

scientific article published on 04 October 2011

Lrrk2 and Lewy body disease

scientific article published in February 2006

Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation

scientific article

Lrrk2 pathogenic substitutions in Parkinson's disease

scientific article published on 17 September 2005

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

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

scientific article published on 07 December 2020

MEIS1 p.R272H in familial restless legs syndrome

scientific article published on July 2009

MR imaging of brainstem atrophy in progressive supranuclear palsy

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

scientific article

MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology

scientific article

Magnetic resonance imaging and deep brain stimulation

scientific article published in December 2002

Magnetic resonance imaging with 21.1 T and pathological correlations--diffuse Lewy body disease

scientific article published in August 2011

Medications used to treat Parkinson's disease and the risk of gambling

scientific article published on 26 February 2008

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

scientific article

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

scientific article

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

scientific article published on 29 September 2010

Molecular pathogenesis of Parkinson disease

scientific article

Movement disorders: insights into mechanisms and hopes for treatment

scientific article published on January 2009

Multiple system atrophy and apolipoprotein E.

scientific article published on 14 February 2018

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

scientific article published in December 1998

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 LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death

scientific article

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

Myoclonus in pallido-ponto-nigral degeneration.

scientific article published in January 2002

NOTCH3 variants and risk of ischemic stroke

scientific article

Neurodegeneration involving putative respiratory neurons in Perry syndrome

scientific article published on 19 June 2007

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

scientific article

Neurologic presentation of Erdheim-Chester disease.

scientific article published on September 2006

Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria

scientific article published on December 2009

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

scientific article published on 20 September 2011

Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism

scientific article

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 A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

scientific article

Novel THAP1 sequence variants in primary dystonia

scientific article

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

scientific article published on February 2014

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

scientific article

Novel radiology method for investigating middle ear myoclonus

scientific article

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

scientific article published on 10 February 2017

Olfactory dysfunction in familial parkinsonism

scientific article published on 01 November 1997

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

scientific article

PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups

scientific article published on 22 February 2012

PARK8 LRRK2 parkinsonism

scientific article

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins

scientific article published in June 2017

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

scientific article published on 4 August 2005

PET studies of parkinsonism associated with mutation in the alpha-synuclein gene

scientific article published on 01 December 1999

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions

scientific article

Pallidonigral TDP-43 pathology in Perry syndrome

scientific article published on 23 August 2008

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.

scientific article

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

scientific article published on 17 June 2013

Parkinsonian syndrome in familial frontotemporal dementia

scientific article

Parkinsonism, FXTAS, and FMR1 premutations

scientific article published in February 2005

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities

scientific article published on 03 April 2018

Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17 ⬇️

scientific article published on October 27, 1998

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

scientific article published on November 12, 2010

Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease

scientific article

Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy

scientific article

Phactr2 and Parkinson's disease

scientific article published on 10 February 2009

Pharmacologic management of seizures in organ transplant

scientific article published on December 2006

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

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 commonalities in familial and sporadic Parkinson disease

scientific article

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

scientific article published in October 2007

Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.

scientific article published in November 2002

Plasma neurofilament light predicts mortality in patients with stroke

scientific article published on 01 November 2020

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

scientific article

Pontine and extrapontine myelinolysis following liver transplantation. Relationship to serum sodium.

scientific article published on December 1989

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

scientific article

Positron emission tomography of dopamine pathways in familial Parkinsonian syndromes

scientific article

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome

scientific article published on 01 January 2000

Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family

scientific article published on December 1996

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

scientific article published on 27 September 2016

Profile of cognitive impairment and underlying pathology in multiple system atrophy

scientific article published on 15 November 2016

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

scientific article

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 02 May 2013

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

article

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

scientific article published on 25 September 2017

Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study

scientific article

Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation

scientific article published on 01 August 2001

Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension

scientific article published on 04 September 2019

Progressive supranuclear palsy: high-field-strength MR microscopy in the human substantia nigra and globus pallidus

scientific 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

Psychometric evaluation of personality in a patient with FTDP-17

scientific article published on 01 April 2010

Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

scientific article published on 13 July 2020

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

scientific article published on 24 March 2016

Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration

scientific article published on September 1, 1992

Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review

scientific article published on 17 September 2007

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease

scientific article published on 17 December 2015

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants

scientific article published on 01 October 2020

Rates of lobar atrophy in asymptomatic MAPT mutation carriers

scientific article published on 30 July 2019

Reduced expression of the G209A alpha-synuclein allele in familial Parkinsonism.

scientific article published on 01 September 1999

Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy

scientific article

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

scientific article published in September 2001

Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions

scientific article

Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study

scientific 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: SNCA variants are associated with increased risk of multiple system atrophy

scientific article published in March 2010

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

scientific article

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

Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease

scientific article

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

scientific article

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia ⬇️

scientific article (publication date: 15 June 2013)

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

scientific article

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

scientific article published on 22 July 2011

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

scientific article

SLC1A2 rs3794087 does not associate with essential tremor

scientific article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

scientific article

Seizures after orthotopic liver transplantation

scientific article published on February 1997

Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples

scientific article published on 28 October 2020

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

scientific article published on 4 November 2012

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

scientific article published on 20 March 2017

Severe vascular disturbance in a case of familial brain calcinosis

scientific article published on 4 June 2005

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

scientific article published on May 2013

Sirkka-Liisa Leinonen

scientific article

So long, and thanks for all the fish

scientific article published in January 2018

Speech characteristics of patients with pallido-ponto-nigral degeneration and their application to presymptomatic detection in at-risk relatives

scientific article published in August 2006

Spinocerebellar ataxia 15: A phenotypic review and expansion

scientific article published on 10 November 2016

Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy

scientific article published on 20 July 2020

Sporadic SCA8 mutation resembling corticobasal degeneration

Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration

scientific article published on 18 October 2011

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

scientific article published on 6 October 2016

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

scientific article published on 5 September 2007

Subtypes of dementia with Lewy bodies are associated with α-synuclein and tau distribution

scientific article published on 19 June 2020

Susceptibility genes for restless legs syndrome are not associated with Parkinson disease

article

TARDBP mutations in Parkinson's disease

scientific article

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

scientific article published in August 2017

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

scientific article

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study

scientific article published on 24 December 2014

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

Tau Mutations as a Novel Risk Factor for Cancer-Letter

Tau pathology in the olfactory bulb correlates with Braak stage, Lewy body pathology and apolipoprotein epsilon4.

scientific article

Thalamic deep brain stimulation for essential tremor: recommendations for long-term outcome analysis.

scientific article published in August 2004

Thalamic deep brain stimulation for tremor-predominant Parkinson's disease

scientific article published in December 2003

The CYP2D6B allele is not overrepresented in a population of German patients with idiopathic Parkinson's disease

scientific article published on November 1996

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 PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

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 effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study

scientific article

The genetics of frontotemporal dementia

scientific article published on August 2007

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

scientific article published in February 2002

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

scientific article

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

scientific article published on 06 January 2020

The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration").

scientific article published in June 1998

Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila

scientific article

Three families with Perry syndrome from distinct parts of the world

scientific article

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

scientific article

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

scientific article published on 15 August 2019

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN ⬇️

scientific article published on July 13, 2011

Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study

scientific article published on 12 December 2019

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

Tremor in progressive supranuclear palsy

scientific article published on 22 March 2016

Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene

scientific article published in December 2000

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

scientific article published in March 2003

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

scientific article published in December 2005

Unilateral pallidotomy for Parkinson's disease: speech, motor, and neuropsychological outcome measurements

scientific article published on July 2000

Update on Genetics of Parkinsonism ⬇️

scientific article published on January 17, 2012

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

scientific article published on January 2014

Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

scientific article published on 01 January 2020

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

Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN

scientific article published on March 2009

Western Nebraska family (family D) with autosomal dominant parkinsonism

scientific article published on 01 March 1995

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

scientific article

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

scientific article

[Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria].

scientific article

[Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance]

scientific article published on 01 May 1993

[Japanese contribution to the understanding of frontotemporal dementia and parkinsonism linked to chromosome 17(FTDP-17)]

scientific article published on 01 February 2003

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