(Q34811944)

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Genetics of parkinsonism

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scholarly article

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Europe PubMed Central

4 August 2017

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Europe PubMed Central

Genetics of parkinsonism. (English)

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Europe PubMed Central

4 August 2017

Parkinson's disease

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

1

object named as

Katrina Gwinn-Hardy

1 reference

Europe PubMed Central

4 August 2017

language of work or name

0 references

publication date

1 July 2002

1 reference

Europe PubMed Central

4 August 2017

Movement Disorders

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Europe PubMed Central

4 August 2017

17

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Europe PubMed Central

4 August 2017

645-656

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Europe PubMed Central

4 August 2017

4

1 reference

Europe PubMed Central

4 August 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Diagnostic criteria for Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The absolute number of nerve cells in substantia nigra in normal subjects and in patients with Parkinson's disease estimated with an unbiased stereological method

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Alpha-synuclein in Lewy bodies

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Widespread alterations of alpha-synuclein in multiple system atrophy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The genetics of disorders with synuclein pathology and parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Parkinson disease in twins: an etiologic study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Discordant twins with Parkinson's disease: positron emission tomography and early signs of impaired cognitive circuits

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The ubiquitin pathway in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Genetic classification of primary neurodegenerative disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Neurodegenerative disease: a different view of diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Clinical genetic analysis of Parkinson's disease in the Contursi kindred

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Novel alpha-synuclein-immunoreactive proteins in brain samples from the Contursi kindred, Parkinson's, and Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Lack of mutation G209A in the alpha-synuclein gene in French patients with familial and sporadic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Low frequency of alpha-synuclein mutations in familial Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Sensitivity to MPTP is not increased in Parkinson's disease-associated mutant alpha-synuclein transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

A Drosophila model of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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/10.1002%2FMDS.10173

21 January 2018

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Gro

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial juvenile parkinsonism: clinical and pathologic study in a family.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Lewy bodies and parkinsonism in families with parkin mutations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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/10.1002%2FMDS.10173

21 January 2018

Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Hereditary form of parkinsonism--dementia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Autosomal dominant Lewy body parkinsonism in a four-generation family

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Complete genomic screen in Parkinson disease: evidence for multiple genes.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Genome-wide scan for Parkinson's disease: the GenePD Study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Neuropathology of lubag (x-linked dystonia parkinsonism).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Neuropsychological aspects of Wilson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Levodopa responsive parkinsonism in an adult with Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The gene for Machado-Joseph disease maps to human chromosome 14q

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Pathologic heterogeneity in clinically diagnosed corticobasal degeneration.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Genetic evidence for the involvement of tau in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial progressive supranuclear palsy. Description of a pedigree and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Clinical genetics of familial progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Measuring the rate of progression and estimating the preclinical period of Parkinson's disease with [18F]dopa PET.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Amyloid, the presenilins and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Parkinson's disease and related neurodegenerative synucleinopathies linked to progressive accumulations of synuclein aggregates in brain.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Regulation of the cell cycle at the G1-S transition by proteolysis of cyclin E and p27Kip1.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

The identification of presymptomatic parkinsonism: clinical and [18F]dopa positron emission tomography studies in an Irish kindred

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial parkinsonism with depression: a clinicopathological study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Autosomal dominant diffuse Lewy body disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial fatal parkinsonism with alveolar hypoventilation and mental depression

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain alpha-synuclein immunoreactivity.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Familial Aggregation of Parkinson's Disease in Iceland

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

A kindred with Parkinson's disease not showing genetic linkage to established loci

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.10173

21 January 2018

Identifiers

10.1002/MDS.10173

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

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