PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism (Q35920094)

11 August 2017

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title

PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism (English)

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11 August 2017

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parkinsonian syndrome

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1

Daniel G Healy

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11 August 2017

Patrick M Abou-Sleiman

series ordinal

2

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PubMed ID

15488458

11 August 2017

Nicholas W Wood

series ordinal

3

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11 August 2017

1 November 2004

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11 August 2017

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11 August 2017

3

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11 August 2017

11

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11 August 2017

652-662

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Risk factors for Parkinson's disease

11 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

7 January 2021

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Diagnostic criteria for Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Criteria for diagnosing Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The ubiquitin pathway in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mutations in NR4A2 associated with familial Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

A susceptibility gene for late-onset idiopathic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Significant linkage of Parkinson disease to chromosome 2q36-37

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

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%2804%2900905-6

7 January 2021

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Alpha-synuclein in Lewy bodies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Caught in the act: alpha-synuclein is the culprit in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

1 reference

7 January 2021

Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

A Drosophila model of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Hereditary form of parkinsonism--dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

alpha-synuclein gene haplotypes are associated with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

7 January 2021

Parkin's substrates and the pathways leading to neuronal damage

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

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%2804%2900905-6

7 January 2021

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Nitrosative stress linked to sporadic Parkinson's disease: S-nitrosylation of parkin regulates its E3 ubiquitin ligase activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

How much phenotypic variation can be attributed to parkin genotype?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The role of pathogenic DJ-1 mutations in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Down regulation of DJ-1 enhances cell death by oxidative stress, ER stress, and proteasome inhibition

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Molecular Pathways of Neurodegeneration in Parkinson's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Biomedicine. Parkinson's--divergent causes, convergent mechanisms.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Novel PINK1 mutations in early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

PINK1 mutations are associated with sporadic early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

PINK1 (PARK6) associated Parkinson disease in Ireland

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Protein degradation or regulation: Ub the judge

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

UCHL1 is a Parkinson's disease susceptibility gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Dopamine neuron agenesis in Nurr1-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mitochondria and dopamine: new insights into recessive parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Chronic systemic pesticide exposure reproduces features of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

7 January 2021

Lewy bodies and parkinsonism in families with parkin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Complex relationship between Parkin mutations and Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

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%2804%2900905-6

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%2804%2900905-6

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%2804%2900905-6

7 January 2021

Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Tau gene and Parkinson's disease: a case-control study and meta-analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Parkinson's syndrome associated with neurofibrillary degeneration and tau pathologic findings

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Phenotypic correlations in FTDP-17.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

A clinical and pathological study of motor neurone disease on Guam

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Progressive supranuclear palsy and its relation to pacific foci of the parkinsonism-dementia complex and Guadeloupean parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Neurofibrillary tangles in Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The parkinsonian phenotype of spinocerebellar ataxia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Huntington's disease and other choreas.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Phenomenology of ?Lubag? or X-linked dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mosaic pattern of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Severe generalised dystonia associated with a mosaic pattern of striatal gliosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Clinical Aspects of Niemann-Pick Type C Disease in the Adult

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Diagnostic considerations in juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

Role of dopamine transporter imaging in routine clinical practice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2804%2900905-6

7 January 2021

10.1016/S1474-4422(04)00905-6

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15488458