Spinocerebellar ataxia 2 (SCA2). (Q37140787)

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5 January 2020

review article

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title

Spinocerebellar ataxia 2 (SCA2) (English)

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5 January 2020

main subject

spinocerebellar ataxia

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inferred from title

author

Isabel Lastres-Becker

series ordinal

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5 January 2020

Udo Rüb

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5 January 2020

Georg Auburger

series ordinal

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5 January 2020

publication date

1 January 2008

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5 January 2020

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5 January 2020

volume

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5 January 2020

issue

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5 January 2020

page(s)

115-124

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Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

5 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12311-008-0019-Y

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12311-008-0019-Y

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12311-008-0019-Y

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population

21 January 2018

1 reference

12 December 2020

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

1 reference

12 December 2020

The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs

1 reference

12 December 2020

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

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12 December 2020

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

1 reference

12 December 2020

14-3-3 proteins in the nervous system

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12 December 2020

Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7.

1 reference

12 December 2020

Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient

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12 December 2020

Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study

1 reference

12 December 2020

Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction

1 reference

12 December 2020

Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese

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12 December 2020

Suppression of myoclonus in SCA2 by piracetam

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12 December 2020

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study

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12 December 2020

Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2).

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12 December 2020

Structural and functional analysis of ataxin-2 and ataxin-3.

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12 December 2020

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

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12 December 2020

The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family

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12 December 2020

Spinocerebellar ataxia type 2 with focal epilepsy--an unusual association.

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12 December 2020

Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors

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12 December 2020

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

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12 December 2020

Proton magnetic resonance spectroscopic imaging reveals differences in spinocerebellar ataxia types 2 and 6.

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12 December 2020

Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2.

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12 December 2020

Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia

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12 December 2020

Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2.

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12 December 2020

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

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12 December 2020

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

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12 December 2020

An integrative approach to gain insights into the cellular function of human ataxin-2

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12 December 2020

Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

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12 December 2020

Glial cell cytoplasmic inclusions in SCA2 do not express alpha-synuclein

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12 December 2020

Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene

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12 December 2020

Cortical silent period prolongation in spinocerebellar ataxia type 2 (SCA2).

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12 December 2020

The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression

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12 December 2020

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

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12 December 2020

Different ataxin-2 antibodies display different immunoreactive profiles

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12 December 2020

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

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12 December 2020

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

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12 December 2020

[Mental disorders in patients with spinocerebellar ataxia type 2 in Cuba]

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12 December 2020

Positron emission tomography and magnetic resonance imaging in spinocerebellar ataxia type 2: a study of symptomatic and asymptomatic individuals

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12 December 2020

[Spinocerebellar ataxia type 2 in Cuba. A study of the electrophysiological phenotype and its correlation with clinical and molecular variables]

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12 December 2020

A novel protein with RNA-binding motifs interacts with ataxin-2

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12 December 2020

Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

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12 December 2020

Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables.

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12 December 2020

Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum

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12 December 2020

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.

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12 December 2020

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

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12 December 2020

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

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12 December 2020

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

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12 December 2020

Four distinct classes of proteins as interaction partners of the PABC domain of Arabidopsis thaliana Poly(A)-binding proteins

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12 December 2020

Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

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12 December 2020

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

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12 December 2020

SH3 domain-dependent interactions of endophilin with amphiphysin

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12 December 2020

ATX-2, the C. elegans ortholog of ataxin 2, functions in translational regulation in the germline

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12 December 2020

The natural history of degenerative ataxia: a retrospective study in 466 patients

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12 December 2020

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

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12 December 2020

Identification of alternative splicing of spinocerebellar ataxia type 2 gene.

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12 December 2020

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease

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12 December 2020

Identification of the major synaptojanin-binding proteins in brain

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration

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12 December 2020

Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways

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12 December 2020

Cloning and characterization of a family of proteins associated with Mpl

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12 December 2020

Stress granules: sites of mRNA triage that regulate mRNA stability and translatability

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12 December 2020

Ubiquitous expression of human SCA2 gene under the regulation of the SCA2 self promoter cause specific Purkinje cell degeneration in transgenic mice.

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12 December 2020

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death

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12 December 2020

The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI

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12 December 2020

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

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12 December 2020

A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation

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12 December 2020

Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6.

1 reference

12 December 2020

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families

1 reference

12 December 2020

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy

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12 December 2020

Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.

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12 December 2020

Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.

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12 December 2020

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement

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12 December 2020

STAR, a gene family involved in signal transduction and activation of RNA.

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.

1 reference

12 December 2020

Epidemiology of Cuban hereditary ataxia

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12 December 2020

Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients

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12 December 2020

Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes

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12 December 2020

Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death

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12 December 2020

Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain

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12 December 2020

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

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12 December 2020

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.

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12 December 2020

Atrophy pattern in SCA2 determined by voxel-based morphometry

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12 December 2020

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

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12 December 2020

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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12 December 2020

Cortical atrophy in the cerebellar variant of multiple system atrophy: a voxel-based morphometry study

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12 December 2020

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3

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12 December 2020

Peripheral nerve involvement in spinocerebellar ataxias

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12 December 2020

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

1 reference

12 December 2020

Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1

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12 December 2020

Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease

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12 December 2020

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

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12 December 2020

Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).

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12 December 2020

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

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12 December 2020

Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion

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12 December 2020

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

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12 December 2020

10.1007/S12311-008-0019-Y

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418684%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418684%20AND%20SRC:MED&resulttype=core&format=json