(Q74309027)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

Hereditary progressive dystonia with marked diurnal fluctuation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

M Segawa

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

22 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

S65-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

DOPA-sensitive progressive dystonia of childhood with fluctuations of symptoms--Segawa's syndrome and possible variants. Results of a collaborative study of the European Federation of Child Neurology Societies (EFCNS).

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dopa-responsive dystonia: pathological and biochemical observations in a case.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Tyrosine hydroxylase and levodopa responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

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%2FS0387-7604%2800%2900148-0

7 January 2021

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

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%2FS0387-7604%2800%2900148-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dopa-responsive dystonia: [18F]dopa positron emission tomography.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

D2 receptor binding in dopa-responsive dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Striatal D2 receptors in symptomatic and asymptomatic carriers of dopa-responsive dystonia measured with [11C]-raclopride and positron-emission tomography

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

New pathologic observations in juvenile onset parkinsonism with dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Behavioral correlates of dopaminergic unit activity in freely moving cats.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Increased dopamine turnover in the putamen after MPTP treatment in common marmosets.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Relative loss of the striatal striosome compartment, defined by calbindin-D28k immunostaining, following developmental hypoxic-ischemic injury.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Histochemically distinct compartments in the striatum of human, monkeys, and cat demonstrated by acetylthiocholinesterase staining

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

A hypothesis on the pathophysiological mechanisms that underlie levodopa- or dopamine agonist-induced dyskinesia in Parkinson's disease: implications for future strategies in treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Neural mechanisms of dystonia: evidence from a 2-deoxyglucose uptake study in a primate model of dopamine agonist-induced dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

New evidence for neurotransmitter influences on brain development

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Ontogenic development of dopamine D4 receptor in rat brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Sexual differentiation of monoaminergic neurons - genetic or epigenetic?

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

Development of the nosological analysis of juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900148-0

7 January 2021

10.1016/S0387-7604(00)00148-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984664%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference