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Lista de obras de 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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Acylated and unacylated ghrelin confer neuroprotection to mesencephalic neurons

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

Analysis of blood-based gene expression in idiopathic Parkinson disease

artículo científico publicado en 2017

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

artículo científico publicado en 2008

Bioenergetic consequences of PINK1 mutations in Parkinson disease

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Botulinum toxin as an effective treatment of clozapine-induced hypersalivation

artículo científico publicado en 2004

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

artículo científico publicado en 2021

Brain parenchyma sonography detects preclinical parkinsonism.

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

COVID-19 Vaccine-Associated Cerebral Venous Thrombosis in Germany

artículo científico publicado en 2021

Caffeine, creatine, GRIN2A and Parkinson's disease progression

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 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).

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Dystonia: clinical features, genetics, and treatment

artículo científico publicado en 2002

EIF2AK2 missense variants associated with early-onset generalized dystonia

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder

artículo científico publicado en 2020

Etiology of musician's dystonia: familial or environmental?

artículo científico publicado en 2009

Evaluating the role of TMEM230 variants in Parkinson's disease

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Exome sequencing for gene discovery: Time to set standard criteria

article

Exome sequencing in a family with restless legs syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

First Report of a Filipino with Mohr-Tranebjaerg Syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Frequency of the D620N mutation in VPS35 in Parkinson disease

artículo científico publicado en 2012

From GWAS to clinical utility in Parkinson's disease ⬇️

artículo científico publicado el 19 de febrero de 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Genetics of Parkinson disease

artículo científico publicado en 2018

Genetics of Parkinson disease and other movement disorders

artículo científico

Genetics of Parkinson's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Genetics of primary torsion dystonia

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2014

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

artículo científico publicado en 2012

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

artículo científico publicado en 2022

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

artículo científico publicado en 2008

Hereditary Dystonia Overview

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

artículo científico publicado en 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?

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Identification and functional analysis of novel THAP1 mutations

artículo científico publicado en 2011

Imaging gradual neurodegeneration in a basal ganglia model disease

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Impact of recent genetic findings in Parkinson's disease

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Intrafamilial phenotypic and genetic heterogeneity of dystonia

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

scientific journal article

Lysosomal impairment in Parkinson's disease

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2020

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers

artículo científico publicado en 2019

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 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?

artículo científico publicado en 2011

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

artículo científico publicado en 2010

Mutations in GNAL: a novel cause of craniocervical dystonia

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Mutations in TUBB4A and spastic paraplegia.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Myoclonus-dystonia due to maternal uniparental disomy

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2016

Neuroimaging abnormalities in individuals exhibiting Parkinson's disease risk markers

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Next generation sequencing and the future of genetic diagnosis

artículo científico publicado en 2014

Next-generation phenotyping and genomic incidental findings--reply

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

artículo científico

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

artículo científico publicado en 2013

No association between NOD2 variants and Parkinson's disease

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Nonmotor Signs in Genetic Forms of Parkinson's Disease

artículo científico

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

artículo científico publicado en 2013

Nonmotor symptoms in Parkin gene-related parkinsonism.

artículo científico publicado en 2010

Nonmotor symptoms in genetic Parkinson disease

scientific article published on June 2010

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

artículo científico publicado en 2020

Novel GNAL mutations in two German patients with sporadic dystonia

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2019

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

artículo científico publicado en 2004

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

artículo científico publicado en 2022

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2005

PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

Parkin gene alterations in hepatocellular carcinoma

artículo científico publicado en 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?

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Phenomenology and classification of dystonia: a consensus update

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Presenting symptoms of GBA-related Parkinson's disease

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Primary familial brain calcifications: genetic and clinical update

artículo científico publicado en 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.

artículo científico publicado en 2015

Profiling of Parkin-binding partners using tandem affinity purification

artículo científico publicado en 2013

Progressive dystonia

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Qualitative Characteristics of Depression in Parkinson's Patients and Controls

artículo científico publicado en 2015

RAB39B mutations are a rare finding in Parkinson disease patients.

artículo científico publicado en 2015

RAD51 haploinsufficiency causes congenital mirror movements in humans

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 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!

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Screening study of TUBB4A in isolated dystonia

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Structural imaging in the presymptomatic stage of genetically determined parkinsonism

artículo científico publicado en 2010

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

artículo científico publicado en 2010

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

artículo científico publicado en 2011

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

The Promise and Limitations of Genome-wide Association Studies

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

The evolving spectrum of PRRT2-associated paroxysmal diseases

artículo científico publicado en 2015

The genetic nomenclature of recessive cerebellar ataxias

artículo científico publicado en 2018

The genetics of Parkinson disease: Implications for neurological care

artículo científico publicado en 2006

The genetics of primary familial brain calcifications.

artículo científico

The many faces of TUBB4A mutations

artículo científico publicado en 2014

The many faces of alpha-synuclein mutations

artículo científico publicado en 2013

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

artículo científico publicado en 2011

The pathology of the spinal cord in progressive supranuclear palsy

artículo científico publicado en 2002

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

The role of mutations in COL6A3 in isolated dystonia

artículo científico publicado en 2016

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

artículo científico publicado en 2002

TorsinA participates in endoplasmic reticulum-associated degradation

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Translation of Oppenheim's 1911 paper on dystonia

artículo científico publicado en 2013

Translational research in neurology and neuroscience 2011: movement disorders

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Update on the Genetics of Dystonia

artículo científico publicado en 2017

Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson disease?

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2013

Will genotype drive treatment options?

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

iPS models of Parkin and PINK1.

artículo científico

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