Inherited movement disorders. (Q34997873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432829%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

review article

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title

Inherited movement disorders (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432829%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432829%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Nutan Sharma

1 reference

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14 December 2019

publication date

1 August 2002

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14 December 2019

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14 December 2019

volume

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14 December 2019

issue

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14 December 2019

page(s)

759-78, vii

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Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989).

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Saccades in Huntington's disease: initiation defects and distractibility

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Huntington's disease in Venezuela: neurologic features and functional decline

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Huntington disease in children: genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Trinucleotide repeat length instability and age of onset in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Neuropathological classification of Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Morphometric analysis of the prefrontal cortex in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Epidemiology of Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Lumping and splitting the Parkinson Plus syndromes: dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy, and cortical-basal ganglionic degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Olivopontocerebellar atrophy. A review of 117 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Parkinson disease in twins: an etiologic study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

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%2FS0733-8619%2801%2900014-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

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/10.1016%2FS0733-8619%2801%2900014-7

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%2FS0733-8619%2801%2900014-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

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/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The ubiquitin pathway in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Experimental models of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A Drosophila model of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Pramipexole vs levodopa as initial treatment for Parkinson disease: A randomized controlled trial. Parkinson Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Diagnosis of Wilson's disease: an experience over three decades

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Wilson's disease. Psychiatric symptoms in 195 cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

1 reference

7 January 2021

Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Investigating diseases no one's got

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The molecular basis of copper-transport diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Dystonia and its disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Penicillamine as a controversial treatment for Wilson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Hallervorden-Spatz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Hallervorden-Spatz Syndrome and Brain Iron Metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Pigmentary Degeneration of the Retina in the Hallervorden-Spatz Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Paroxysmal dyskinesias: clinical features and classification

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Genetics of primary dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Linkage analysis in British and French families with idiopathic torsion dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The role of DYT1 in primary torsion dystonia in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Clinical and molecular genetics of primary dystonias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Neuropathology of lubag (x-linked dystonia parkinsonism).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Delineation of the dystonia-parkinsonism syndrome locus in Xq13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

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/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Positron emission tomographic findings in Filipino X-linked dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Essential myoclonus and myoclonic dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Dopa-responsive dystonia: recent advances and remaining issues to be addressed

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900014-7

7 January 2021

10.1016/S0733-8619(01)00014-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432829%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432829%20AND%20SRC:MED&resulttype=core&format=json