Deciphering the role of heterozygous mutations in genes associated with parkinsonism (Q36854642)

16 August 2017

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title

Deciphering the role of heterozygous mutations in genes associated with parkinsonism (English)

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16 August 2017

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3

Ekaterina Rogaeva

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16 August 2017

1

Christine Klein

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16 August 2017

5

Anthony E Lang

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PubMed ID

17582365

16 August 2017

Michael G Schlossmacher

series ordinal

4

object named as

Michael G Schlossmacher

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16 August 2017

Katja Lohmann-Hedrich

series ordinal

2

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16 August 2017

1 July 2007

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16 August 2017

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16 August 2017

6

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16 August 2017

652-662

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16 August 2017

7

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The genetics of Parkinson disease: Implications for neurological care

16 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Alpha-synuclein in Lewy bodies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Interface between tauopathies and synucleinopathies: A tale of two proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Nosology of Parkinson's disease: looking for the way out of a quagmire

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkinsonism genes: culprits and clues

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Novel PINK1 mutations in early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Lrrk2 pathogenic substitutions in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Interaction of ?-synuclein and tau genotypes in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

UCHL1 is a Parkinson's disease susceptibility gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Genetic testing in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

How much phenotypic variation can be attributed to parkin genotype?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson’s disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 mutations in Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Kinase activity of mutant LRRK2 mediates neuronal toxicity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Kinase activity is required for the toxic effects of mutant LRRK2/dardarin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 expression linked to dopamine-innervated areas.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Biochemical and pathological characterization of Lrrk2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkinsonism, Lrrk2 G2019S, and tau neuropathology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin: a multipurpose neuroprotective agent?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

RING finger 1 mutations in Parkin produce altered localization of the protein

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Pathogenic mutations inactivate parkin by distinct mechanisms.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

PINK1 (PARK6) associated Parkinson disease in Ireland

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

PINK1 mutations in sporadic early-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Complex relationship between Parkin mutations and Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

PINK1 mutations are associated with sporadic early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

A heterozygous effect for PINK1 mutations in Parkinson's disease?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Implications of genetics on the diagnosis and care of patients with Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin variants in North American Parkinson's disease: cases and controls.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Heterozygousparkinpoint mutations are as common in control subjects as in Parkinson's patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Case-control study of the parkin gene in early-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Lewy bodies and parkinsonism in families with parkin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Clinical findings in a large family with a parkin ex3delta40 mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

PINK1 protein in normal human brain and Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Muscular dystrophies: genes to pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Dopa-responsive dystonia is induced by a dominant-negative mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Neurotoxicity and behavioral deficits associated with Septin 5 accumulation in dopaminergic neurons

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Gaucher disease: complexity in a "simple" disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Brain parenchyma sonography detects preclinical parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Reduced amplitude of the sural nerve sensory action potential in PARK2 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Genetics: What is a gene?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

Molecular markers of early Parkinson's disease based on gene expression in blood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970174-6

7 January 2021

10.1016/S1474-4422(07)70174-6

Identifiers

DOI

1 reference

16 August 2017

1 reference

PubMed ID

17582365