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List of works by Christine Klein

'Atypical' Parkinson's disease - genetic

scientific article published on 25 November 2019

<i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

scientific article published in 2022

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

scientific article published on 13 June 2018

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.

scientific article published on 15 May 2017

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

article

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

scientific article published on 03 May 2019

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

scientific article published on 2 February 2018

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

scientific article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

A new gene for primary familial brain calcification: The importance of phosphate homeostasis

scientific article published on 21 July 2015

A nonsense mutation in CHCHD2 in a patient with Parkinson disease

scientific article published on 13 January 2016

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

scientific article published in June 2013

A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia

scientific article published on 18 September 2017

A population-based study on combined markers for early Parkinson's disease

scientific article published on 27 December 2014

A study of subtle motor signs in early Parkinson's disease

scientific article published on 2 October 2012

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

scientific article published on 31 January 2012

ATP13A2 variants in early-onset Parkinson's disease patients and controls

scientific article

Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?

scientific article

Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers

scientific article published on 26 October 2016

Acylated and unacylated ghrelin confer neuroprotection to mesencephalic neurons

scientific article

Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells.

scientific article

Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors

scientific article published on 02 September 2020

Age- and sex-related heterogeneity in prodromal Parkinson's disease

scientific article published on 23 March 2018

Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation

scientific article published on 4 September 2017

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

scholarly article by Daniela Berg et al published 2005 in Movement Disorders

Alterations in the common fragile site gene Parkin in ovarian and other cancers

scientific article published in November 2003

Altered brain activation in a reversal learning task unmasks adaptive changes in cognitive control in writer's cramp

scientific article

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

scientific article published on 6 December 2016

An omics-based strategy using coenzyme Q10 in patients with Parkinson's disease: concept evaluation in a double-blind randomized placebo-controlled parallel group trial

scientific article published on 23 August 2019

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

scientific article published on 23 September 2011

Analysis of blood-based gene expression in idiopathic Parkinson disease

scientific article published on 15 September 2017

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Arm tremor in cervical dystonia--is it a manifestation of dystonia or essential tremor?

scientific 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

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

scientific article published on 30 August 2011

Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism

scientific article published on 01 February 2019

Association of Parkinson disease to PARK16 in a Chilean sample

scientific article published on 8 October 2010

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

scientific article published on 26 October 2018

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease

scientific article published on 11 April 2017

Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians

scientific article published on 01 July 2017

Autosomal dominant Parkinson's disease in a large German pedigree.

scientific article

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene

scientific article published on 01 October 2007

Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism

scientific article published on 01 October 2018

Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals

scientific article published on 2 November 2010

Bee venom and its component apamin as neuroprotective agents in a Parkinson disease mouse model

scientific article (publication date: 2013)

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency

scientific article published on August 2012

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

scientific article published in April 2008

Bioenergetic consequences of PINK1 mutations in Parkinson disease

scientific article

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

scientific article published on 12 January 2007

Botulinum toxin B as an effective and safe treatment for neuroleptic-induced sialorrhea

scientific article published on 13 October 2009

Botulinum toxin as an effective treatment of clozapine-induced hypersalivation

scientific article published on 28 January 2004

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

scientific article published on 06 July 2021

Brain parenchyma sonography detects preclinical parkinsonism.

scientific article

Brain-derived neurotrophic factor--a major player in stimulation-induced homeostatic metaplasticity of human motor cortex?

scientific article

CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study

scientific article

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

COVID-19 Vaccine-Associated Cerebral Venous Thrombosis in Germany

scientific article published on 23 August 2021

Caffeine, creatine, GRIN2A and Parkinson's disease progression

scientific article

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency

scientific article (publication date: 6 March 2017)

Challenges of making music: what causes musician's dystonia?

scientific article

Childhood-onset restless legs syndrome: clinical and genetic features of 22 families

scientific article published in June 2008

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

scientific article published on 24 June 2020

Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease

article

Clinical and Demographic Characteristics of Upper Limb Dystonia

scientific article published on 26 August 2020

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis.

scientific article published in May 2010

Clinical and demographic characteristics related to onset site and spread of cervical dystonia

scientific article published on 18 October 2016

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation

scientific article (publication date: February 2004)

Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.

scientific article

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

scientific article

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

scientific article published on September 2010

Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG).

scientific article published in January 2007

Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study

scientific article published on 17 April 2018

Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

scientific article

Co-occurrence of restless legs syndrome andParkin mutations in two families

scientific article published on 01 February 2006

Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK).

scientific article published on 19 December 2012

Commentary for "Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy"

scientific article published on 02 July 2012

Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele

scientific article published on 20 March 2012

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

scientific article published in July 2017

Complications of nasal and pharyngeal swabs - a relevant challenge of the COVID-19 pandemic?

scientific article published on 10 December 2020

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

scientific article published in May 2007

Correction: CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study.

scientific article published on 27 January 2011

Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

scientific article published in April 2019

Critical evaluation of the DNA-methylation markers ABCG1 and SREBF1 for Type 2 diabetes stratification

scientific article published on 06 June 2019

DNA Methylation as a Potential Molecular Mechanism in X-Linked Dystonia-Parkinsonism

scientific article published on 10 September 2020

Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany).

scientific article

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

scientific article published on 13 April 2014

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

scientific article published on 25 March 2019

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

scientific article published on July 2007

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

scientific article published on 3 February 2017

Delayed-onset dystonia due to perinatal asphyxia: a prospective study

scientific article published on 01 December 2007

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

scientific article

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

scientific article published in May 2004

Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson's disease

scientific article published on 29 March 2009

Differential effects of BDNF val(66)met in repetitive associative learning paradigms

scientific article

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

scientific article

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

scientific article published on 02 May 2019

Discordant monozygotic Parkinson disease twins: Role of mitochondrial integrity

scientific article published on 23 October 2020

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

scientific article published in February 2018

Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification

scientific article published on 01 November 2010

Distribution, type, and origin of Parkin mutations: review and case studies

scientific article published in October 2004

Does uncoupling protein 2 expression qualify as marker of disease status in LRRK2-associated Parkinson's disease?

scientific article published on 07 March 2014

Don't do harm by diagnosis - An abnormal cranial CT: Still fa(h)r from a disease

scientific article published on 01 June 2020

Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs

scientific article published on December 2012

Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding

scientific article published on 2 May 2017

Dystonia & tremor: A cross-sectional study of the dystonia coalition cohort

scientific article published on 12 October 2020

Dystonia: clinical features, genetics, and treatment

scientific article

EIF2AK2 missense variants associated with early-onset generalized dystonia

scientific article published on 24 November 2020

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

scientific article

ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson's Disease

scientific article published on 07 June 2018

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

scientific article published on 01 April 2006

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients

scientific article

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

scientific article (publication date: November 2002)

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder

scientific article published on 01 January 2020

Etiology of musician's dystonia: familial or environmental?

scientific article

Evaluating the role of TMEM230 variants in Parkinson's disease

scientific article published on 20 December 2016

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

scientific article published on 15 February 2016

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

scientific article

Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia

scientific article published on 09 June 2020

Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

scientific article published on 16 March 2011

Exome sequencing for gene discovery: Time to set standard criteria

article

Exome sequencing in a family with restless legs syndrome.

scientific article

Expanding Data Collection for the MDSGene Database: X-Linked Dystonia-Parkinsonism as Use Case Example

scientific article published on 19 September 2020

Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration

scientific article published on 15 October 2018

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

scientific article

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study

scientific article published on 20 April 2017

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

scientific article published on 03 February 2017

Familial idiopathic basal ganglia calcification: unraveling the first genetic cause

scientific article published on 01 July 2012

Family history of primary movement disorders as a predictor for neuroleptic-induced extrapyramidal symptoms

scientific article published on 01 December 2004

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

scientific article

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

scientific article published on 27 July 2018

First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation

scientific article published on 27 November 2020

First Report of a Filipino with Mohr-Tranebjaerg Syndrome

scientific article published on 26 August 2015

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

scientific article published in March 2012

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

scientific article published in February 2004

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients

scientific article published in February 2006

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

scientific article

Frequency of parkin mutations in late-onset Parkinson's disease.

scientific article published in September 2003

Frequency of the D620N mutation in VPS35 in Parkinson disease

scientific article published in October 2012

From GWAS to clinical utility in Parkinson's disease ⬇️

scientific article published on February 19, 2011

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias

scientific article published on 18 October 2017

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.

scientific article published on 18 September 2017

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

scientific article

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease

scientific article published on 19 October 2019

Genetic Testing for Neurologic Disorders ⬇️

scientific article published on January 21, 2012

Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation

scientific article published on 14 December 2020

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

scientific article

Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study

scientific article

Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes

scientific article published on 10 August 2012

Genetic risk loci for Parkinson's disease: Moving from state to trait?

scientific article published on 23 April 2015

Genetics of Parkinson disease

scientific article published in January 2018

Genetics of Parkinson disease and other movement disorders

scientific article published on August 2012

Genetics of Parkinson's disease

scientific article

Genetics of dystonia: what's known? What's new? What's next?

scientific article

Genetics of primary torsion dystonia

scientific article published on May 2010

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

scientific article published on January 2007

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism

scientific article published on 01 July 2018

Genome-Edited, TH-expressing Neuroblastoma Cells as a Disease Model for Dopamine-Related Disorders: A Proof-of-Concept Study on DJ-1-deficient Parkinsonism

scientific article published in January 2017

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

scientific article published on 26 December 2013

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genotype-phenotype relations for the Parkinson's Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review

scientific article published on 11 April 2018

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

article

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

scientific article

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

scientific article published on 20 July 2012

H-ABC- and dystonia-causing <i>TUBB4A</i> mutations show distinct pathogenic effects

scientific article published on 11 March 2022

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Hereditary Dystonia Overview

scientific article published on 22 June 2017

Hereditary dystonia and parkinsonism: two sides of the same coin?

scientific article published in September 2014

Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond

scientific article published on October 2009

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

scientific article published on 01 September 2006

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

scientific article

Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease

scientific article

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

scientific article published on 21 March 2011

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

scholarly article by Cindy Zadikoff et al published 17 March 2006 in Movement Disorders

How Do I Confirm that a New Mutation is Pathogenic?

scientific article published on 23 March 2018

How to predict the risk of Parkinson disease in relatives of parkin mutation carriers: a complex puzzle of age, penetrance, and number of mutated alleles

scientific article published in April 2008

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

Identification and functional analysis of novel THAP1 mutations

scientific article published on 17 August 2011

Imaging gradual neurodegeneration in a basal ganglia model disease

scientific article published on 23 August 2019

Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

scientific article published in July 2010

Impact of recent genetic findings in Parkinson's disease

scientific article published on August 2007

Impaired differentiation of human induced neural stem cells by TOR1A overexpression

scientific article published on 01 April 2020

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

scientific article published in November 2010

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation

scientific article published on 03 April 2020

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

scientific article published on 28 October 2017

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

scientific article

Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers

scientific article published on 8 July 2017

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Intrafamilial phenotypic and genetic heterogeneity of dystonia

scientific article published on 05 October 2006

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

article published in 2018

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

scientific article published on 12 February 2011

L-dopa increases α-synuclein DNA methylation in Parkinson's disease patients in vivo and in vitro

scientific article published on 14 July 2015

LINGO1 is not associated with Parkinson's disease in German patients

scientific article published in September 2010

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

scientific article

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

scientific article published on 21 July 2008

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Launching the movement disorders society genetic mutation database (MDSGene).

scientific article published on May 2016

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

scientific article published in September 2005

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

scientific article

Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers

scientific article published on 7 February 2008

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

scientific article

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

scientific article

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

scientific article published in February 2017

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

scientific journal article

Lysosomal impairment in Parkinson's disease

scientific article published on 11 April 2013

MDR1 variants and risk of Parkinson disease. Association with pesticide exposure?

scientific article

MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease

scholarly article by Christine Klein et al published 2018 in Journal of Parkinson's disease

Mapping preclinical compensation in Parkinson's disease: an imaging genomics approach

scientific article

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

scientific article published on 30 January 2020

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors

scientific article published on 09 April 2020

Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects

scientific article published on 10 October 2020

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers

scientific article published on 12 June 2019

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance

scientific article published on 25 August 2020

Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells

scientific article

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

scientific article published on 08 October 2020

Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.

scientific article published in July 2002

Mortalin mutations are not a frequent cause of early-onset Parkinson disease

scientific article published on 5 July 2013

Motor complications in patients form the German Competence Network on Parkinson's disease and the DRD3 Ser9Gly polymorphism

scientific article

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

scientific article published on 07 September 2018

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

scientific article published on 04 November 2019

Movement disorders in 2011: Translating new research findings into clinical practice

scientific article published on 20 December 2011

Multi-omic landscaping of human midbrains identifies disease-relevant molecular targets and pathways in advanced-stage Parkinson's disease

scientific article published on 01 January 2022

Munchausen syndrome by genetics: Next-generation challenges for clinicians

scientific article published on 03 February 2017

Musician's dystonia and comorbid anxiety: two sides of one coin?

journal article published in 2011

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

scientific article

Mutations in GNAL: a novel cause of craniocervical dystonia

scientific article

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts

scientific article

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

scientific article published in April 2009

Mutations in TUBB4A and spastic paraplegia

scientific article published on 19 October 2015

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

scientific article published on 31 March 2018

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

scientific article

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

scientific article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Myoclonus-dystonia due to maternal uniparental disomy

scientific article published on 01 October 2008

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach

scientific article published in April 2010

NR4A2 mutations are rare among European patients with familial Parkinson's disease

scientific article published on 01 September 2003

Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept

scientific article published on 28 September 2021

Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome

scientific article published on 11 January 2020

Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism

scientific article

Neuroimaging abnormalities in individuals exhibiting Parkinson's disease risk markers

scientific article published on 14 May 2018

Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease

scientific article

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

scientific article

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

scientific article

Next generation sequencing and the future of genetic diagnosis

scientific article

Next-generation phenotyping and genomic incidental findings--reply

Next-generation phenotyping using the parkin example: time to catch up with genetics

scientific article published on September 2013

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

scientific article published on 18 September 2013

No association between NOD2 variants and Parkinson's disease

scientific article published on 13 July 2012

No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease

scientific article published on 06 February 2013

No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning

scientific article

No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia

scientific article published on 02 June 2011

No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients

scientific article published on 19 January 2012

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

scientific article published on 04 October 2019

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

scientific article published in May 2017

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

scientific article published on April 2016

Non-motor phenotype of dopa-responsive dystonia and quality of life assessment

scientific article published on 9 January 2014

Nonmotor Signs in Genetic Forms of Parkinson's Disease

scientific article published on 13 July 2017

Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort

scientific article

Nonmotor symptoms in Parkin gene-related parkinsonism.

scientific article published in July 2010

Nonmotor symptoms in genetic Parkinson disease

scientific article published on June 2010

Nonsteroidal Anti-Inflammatory Use and LRRK2 Parkinson's Disease Penetrance

scientific article published on 14 July 2020

Novel GNAL mutations in two German patients with sporadic dystonia

scientific article published on 7 November 2014

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

scientific article published on 13 January 2017

Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment

scientific article published on 20 November 2019

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

scientific article published on October 2004

One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk

scientific article published on 15 April 2022

Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification

scientific article published on 01 January 2020

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

scientific article published on 27 March 2002

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling

scientific journal article

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases

scientific article published on 19 August 2020

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

scientific article published in September 2005

PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

scientific article published on 16 March 2011

PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion

scientific article published on 30 October 2018

PLA2G6mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology

scholarly article by Christine Klein et al published 6 October 2016 in Movement Disorders

Pallidal and thalamic deep brain stimulation in myoclonus-dystonia

scientific article published in August 2010

Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells ⬇️

scientific article published on 11 February 2019

Parkin Type of Early-Onset Parkinson Disease

scientific article published on 4 April 2013

Parkin gene alterations in hepatocellular carcinoma

scientific article published on June 2004

Parkin-linked Parkinson's disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches

scientific article published on 16 September 2020

Parkingene modifies the effect ofRLS4on the age at onset of restless legs syndrome (RLS)

Parkinson disease(s): is "Parkin disease" a distinct clinical entity?

scientific article published on 05 November 2008

Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder

scientific article

Parkinson disease: genetic testing in Parkinson disease-who should be assessed?

scientific article published on 01 January 2011

Parkinson's disease in the Western Pacific Region

scientific article published on 04 June 2019

Paroxysmal cervical myoclonus

scientific article published on 01 September 2011

Personality profiles are different in musician's dystonia and other isolated focal dystonias

scientific article published on 07 May 2018

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

scientific article

Phenomenology and classification of dystonia: a consensus update

scientific article

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Phenotypes and genetic architecture of focal primary torsion dystonia

article by Justus L Groen et al published 8 July 2012 in Journal of Neurology, Neurosurgery and Psychiatry

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

scientific article published on 01 January 2007

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

scientific article

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

scientific article published on 01 March 2002

Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons

scientific article

Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts

scientific article

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

scientific article

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.

scientific article published in August 2010

Premotor-motor excitability is altered in dopa-responsive dystonia.

scientific article published on 31 July 2015

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

scientific article published in August 2005

Presenting symptoms of GBA-related Parkinson's disease

scientific article published on May 2015

Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia

scientific article published on 17 April 2020

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

scientific article published on 27 September 2016

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization

scientific article

Primary familial brain calcifications: genetic and clinical update

scientific article published on 01 August 2019

Private variants in PRKN are associated with late-onset Parkinson's disease

scientific article published on 11 May 2020

Probing the exome in Alzheimer disease and other neurodegenerative disorders.

scientific article

Profiling of Parkin-binding partners using tandem affinity purification

scientific article

Progressive dystonia

scientific article published on January 2013

Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia

scientific article published on 15 January 2013

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

Pure akinesia as initial presentation of PSP: a clinicopathological study.

scientific article published on 5 March 2008

Qualitative Characteristics of Depression in Parkinson's Patients and Controls

scientific article

RAB39B mutations are a rare finding in Parkinson disease patients

scientific article published on 22 December 2015

RAD51 haploinsufficiency causes congenital mirror movements in humans

scientific article published on 2 February 2012

REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations

scientific article published on 15 March 2015

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

scientific article published on 01 September 2007

Rapid-onset dystonia-parkinsonism: case report

scientific article published in March 2010

Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease

scientific article published on 08 April 2020

Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease

scientific article published on 01 October 2008

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

scientific article published on 8 November 2013

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

scientific article published on November 2010

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease

scientific article published on 01 September 2006

Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection

scientific article published on 20 February 2017

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Reply letter to "ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity"

scientific article published on 01 December 2016

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

scientific article

Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers

scientific article published on 12 October 2009

Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD.

scientific article published on 4 September 2010

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility

scientific article published on 12 November 2010

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study

scientific article published on 17 December 2019

Risky behaviors and Parkinson disease: A mendelian randomization study

scientific article published on 16 September 2019

Risky behaviors and Parkinson's disease: A Mendelian randomization study in up to 1 million study participants

scholarly article published 18 October 2018

Role of ANO3 mutations in dystonia: A large-scale mutational screening study

scientific article published on 02 January 2019

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

scientific article

Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease

scholarly article by Susan Winkler et al published 18 July 2007 in European Journal of Human Genetics

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

scientific article published on 01 May 2002

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

scientific article published on 22 July 2011

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila

scientific article published on 3 April 2017

Screening study of TUBB4A in isolated dystonia

scientific article published on 10 June 2017

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia

scientific article published on 4 February 2015

Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene

scientific article published on 01 October 2005

Single heterozygous ATP13A2 mutations cause cellular dysfunction associated with Parkinson's disease

scientific article published on 14 February 2018

Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.

scientific article published on 10 January 2017

Stem Cells and Organoid Technology in Precision Medicine in Inflammation: Are We There Yet?

scientific article published on 21 December 2020

StemBANCC: Governing Access to Material and Data in a Large Stem Cell Research Consortium

scientific article

Stimulation of electron transport as potential novel therapy in Parkinson's disease with mitochondrial dysfunction

scientific article published on April 2015

Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models

scientific article published on 28 July 2014

Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism

scientific article published on 6 January 2017

Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.

scientific article published in June 2010

Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease

scientific article published in January 2009

Structural imaging in the presymptomatic stage of genetically determined parkinsonism

scientific article

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

scientific article

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

scientific article

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

scientific article

The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism

scientific article published on 13 May 2017

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

scientific article

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

scientific article published in April 2009

The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease

scientific article published on March 2008

The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia

scientific article published on 4 January 2012

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

The Promise and Limitations of Genome-wide Association Studies

scientific article published in The Journal of the American Medical Association

The R98Q variation in DJ-1 represents a rare polymorphism

scientific article published on 01 January 2004

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

scientific article published on 13 December 2019

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

scientific article published on 14 December 2020

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The Wilson films — Huntington's Chorea ⬇️

scientific article published on December 1, 2011

The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations

scientific article

The curious case of phenocopies in families with genetic Parkinson's disease

scientific article

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

scientific article

The evolving spectrum of PRRT2-associated paroxysmal diseases

scientific article

The genetic nomenclature of recessive cerebellar ataxias

scientific article published on 14 May 2018

The genetics of Parkinson disease: Implications for neurological care

scientific article published on March 2006

The genetics of primary familial brain calcifications.

scientific article published on October 2014

The many faces of TUBB4A mutations

scientific article published on 21 March 2014

The many faces of alpha-synuclein mutations

scientific article published on 14 May 2013

The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.

scientific article

The pathology of the spinal cord in progressive supranuclear palsy

scientific article published in March 2002

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

scientific article

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease

scientific article published on 09 March 2014

The role of mutations in COL6A3 in isolated dystonia

scientific article

The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations

scientific article published on 23 June 2019

The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans

scientific article published in April 2002

TorsinA participates in endoplasmic reticulum-associated degradation

scientific article

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations

scientific article published on 09 May 2008

Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations

scientific article published on 16 January 2013

Translation of Oppenheim's 1911 paper on dystonia

scientific article published on June 2013

Translational research in neurology and neuroscience 2011: movement disorders

scientific article published on 14 February 2011

Truncating VPS16 mutations are rare in early-onset dystonia

scientific article published on 11 December 2020

Truncating mutations in THAP1 define the nuclear localization signal

scientific article published on 14 April 2011

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations

scientific article published on 01 May 2012

Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers

scientific article published on 27 December 2014

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations

scientific article

Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation

scientific article published on 13 January 2015

Update on the Genetics of Dystonia

scientific article published on March 2017

Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson disease?

scientific article

Using global team science to identify genetic parkinson's disease worldwide

scientific article published on 26 June 2019

Utility and implications of exome sequencing in early-onset Parkinson's disease

scientific article published on 10 December 2018

Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease.

scientific article

Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

scientific article

Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson’s Disease

article

Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

scientific article published on 27 March 2018

What Is the Role of Genetic Testing in Movement Disorders Practice? ⬇️

scientific article published on August 1, 2011

What would Dr. James Parkinson think today? The role of genetics in Parkinson's disease

scientific article published on 01 August 2017

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

scientific article (publication date: April 2013)

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal

article

White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations

scientific article

Will genotype drive treatment options?

scientific article published on 10 April 2019

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

scientific article published in September 2014

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

scientific article published on 6 February 2013

X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration

scientific article published in October 2014

[18F]-Dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism

scientific article

iPS models of Parkin and PINK1.

scientific article published on April 2015

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