(Q37849252)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

review article

1 reference

title

Movement disorders in spinocerebellar ataxias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Judith van Gaalen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Bart P van de Warrenburg

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

language of work or name

English

0 references

publication date

2 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

792-800

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

24 January 2020

cites work

1 reference

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

21 January 2018

1 reference

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.

21 January 2018

1 reference

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

21 January 2018

1 reference

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

21 January 2018

1 reference

Cervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings

21 January 2018

1 reference

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6.

21 January 2018

1 reference

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

21 January 2018

1 reference

Cervical dystonia in spinocerebellar ataxia type 2.

21 January 2018

1 reference

Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3.

21 January 2018

1 reference

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n

21 January 2018

1 reference

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

21 January 2018

1 reference

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

21 January 2018

1 reference

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

21 January 2018

1 reference

SCA17 homozygote showing Huntington's disease-like phenotype.

21 January 2018

1 reference

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

21 January 2018

1 reference

Huntington's disease phenocopies are clinically and genetically heterogeneous

21 January 2018

1 reference

Choreiform movements in spinocerebellar ataxia type 1.

21 January 2018

1 reference

Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan

21 January 2018

1 reference

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

21 January 2018

1 reference

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

21 January 2018

1 reference

Complex phenotypes in an Indian family with homozygous SCA2 mutations.

21 January 2018

1 reference

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

21 January 2018

1 reference

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.

21 January 2018

1 reference

The parkinsonian phenotype of spinocerebellar ataxia type 2.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

21 January 2018

1 reference

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

21 January 2018

1 reference

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

21 January 2018

1 reference

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

21 January 2018

1 reference

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

21 January 2018

1 reference

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.

21 January 2018

1 reference

Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation

21 January 2018

1 reference

Dopaminergic response in Parkinsonian phenotype of Machado-Joseph disease

21 January 2018

1 reference

SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report

21 January 2018

1 reference

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

21 January 2018

1 reference

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

21 January 2018

1 reference

The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families

21 January 2018

1 reference

Subthalamic-thalamic DBS in a case with spinocerebellar ataxia type 2 and severe tremor-A unusual clinical benefit

21 January 2018

1 reference

Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3.

21 January 2018

1 reference

Spinocerebellar ataxia type 1 mimicking stiff person syndrome.

21 January 2018

1 reference

Restless legs syndrome and motor activity during sleep in spinocerebellar ataxia type 6.

21 January 2018

1 reference

Secondary cervical dystonia associated with structural lesions of the central nervous system

21 January 2018

1 reference

Focal limb dystonia in a patient with a cerebellar mass

21 January 2018

1 reference

Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.

21 January 2018

1 reference

Cerebellum can be a possible generator of progressive myoclonus

21 January 2018

1 reference

Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect

21 January 2018

1 reference

Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies

21 January 2018

1 reference

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

21 January 2018

1 reference

New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).

21 January 2018

1 reference

SCA3: neurological features, pathogenesis and animal models

21 January 2018

1 reference

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

21 January 2018

1 reference

Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123I-betaCIT and 123I-IBZM SPECT study

21 January 2018

1 reference

Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6.

21 January 2018

1 reference

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

21 January 2018

1 reference

Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism

21 January 2018

1 reference

Putamen dopamine transporter and glucose metabolism are reduced in SCA17.

21 January 2018

1 reference

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

21 January 2018

1 reference

Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites.

21 January 2018

1 reference

The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6.

21 January 2018

1 reference

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

21 January 2018

1 reference

The neuropathology of CAG repeat diseases: review and update of genetic and molecular features

21 January 2018

1 reference

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

21 January 2018

1 reference

Spinocerebellar ataxia type 1, 2, and 3 and restless legs syndrome: striatal dopamine D2 receptor status investigated by [11C]raclopride positron emission tomography.

21 January 2018

1 reference

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

21 January 2018

1 reference

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.

21 January 2018

1 reference

Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.

21 January 2018

1 reference

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

21 January 2018

1 reference

Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings

21 January 2018

1 reference

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism

21 January 2018

1 reference

Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism.

21 January 2018

1 reference

SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications

21 January 2018

1 reference

Suppression of myoclonus in SCA2 by piracetam

21 January 2018

1 reference

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

21 January 2018

1 reference

SCA2 may present as levodopa-responsive parkinsonism

21 January 2018

1 reference

SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism

21 January 2018

1 reference

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

21 January 2018

1 reference

Spinocerebellar ataxia type 3 presenting as an l-DOPA responsive dystonia phenotype in a Chinese family

21 January 2018

1 reference

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

21 January 2018

1 reference

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

21 January 2018

1 reference

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

21 January 2018

1 reference

Mutation at the SCA17 locus is not a common cause of parkinsonism

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.23584

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21370272%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference