A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba (Q37852582)

24 August 2017

1 reference

title

A comprehensive review of spinocerebellar ataxia type 2 in Cuba (English)

1 reference

24 August 2017

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba (English)

1 reference

https://api.crossref.org/works/10.1007/S12311-011-0265-2

spinocerebellar ataxia type 2

27 November 2024

main subject

Cuba

0 references

1 reference

Luis Velázquez-Pérez

1 reference

24 August 2017

Roberto Rodríguez-Labrada

1 reference

24 August 2017

Julio Cesar García-Rodríguez

1 reference

24 August 2017

Luis Enrique Almaguer-Mederos

1 reference

24 August 2017

Tania Cruz-Mariño

1 reference

24 August 2017

José Miguel Laffita-Mesa

1 reference

24 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21399888

27 November 2024

publication date

1 June 2011

1 reference

24 August 2017

June 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21399888

full work available at URL

27 November 2024

http://link.springer.com/content/pdf/10.1007/s12311-011-0265-2.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/S12311-011-0265-2

http://link.springer.com/article/10.1007/s12311-011-0265-2/fulltext.html

27 November 2024

1 reference

https://api.crossref.org/works/10.1007/S12311-011-0265-2

http://link.springer.com/content/pdf/10.1007/s12311-011-0265-2

27 November 2024

1 reference

https://api.crossref.org/works/10.1007/S12311-011-0265-2

27 November 2024

1 reference

24 August 2017

1 reference

24 August 2017

1 reference

24 August 2017

page(s)

184-198

1 reference

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Molecular pathogenesis of spinocerebellar ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Restless legs syndrome in Parkinson's disease and other neurodegenerative diseases of the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

The parkinsonian phenotype of spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Scale for the assessment and rating of ataxia: development of a new clinical scale

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Pontine and cerebellar atrophy correlate with clinical disability in SCA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Generation and characterization of Sca2 (ataxin-2) knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Prevalence of antigliadin antibodies in ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Antigliadin antibodies in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Antigliadin antibodies in Cuban patients with spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

CSF antigliadin antibodies and the Ramsay Hunt syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Progression markers of Spinocerebellar ataxia 2. A twenty years neurophysiological follow up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Oculomotor phenotypes in autosomal dominant ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Olfactory dysfunction in degenerative ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Age at onset and life table risks in genetic counselling for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Periodic limb movements in sleep and periodic limb movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0265-2

Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group

21 January 2018

1 reference

12 December 2020

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

1 reference

12 December 2020

[Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients]

1 reference

12 December 2020

[Electromyographic pattern in patients and asymptomatic carriers of the SCA2 mutation]

1 reference

12 December 2020

Defining the boundaries of the response of sleep leg movements to a single dose of dopamine agonist

1 reference

12 December 2020

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

1 reference

12 December 2020

Gluten sensitivity in sporadic and hereditary cerebellar ataxia

1 reference

12 December 2020

The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Epidemiology and clinical aspects of Machado-Joseph disease.

1 reference

12 December 2020

Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2

1 reference

12 December 2020

Aggregation and toxicity of the proteins with polyQ repeats

1 reference

12 December 2020

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias

1 reference

12 December 2020

Olfactory dysfunction in hereditary ataxia and basal ganglia disorders

1 reference

12 December 2020

Difference in the Effects of Tandospirone on Ataxia in Various Types of Spinocerebellar Degeneration: An Open-Label Study

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Presymptomatic testing for Huntington disease in the United States.

1 reference

12 December 2020

Spinocerebellar ataxia type 2 olfactory impairment shows a pattern similar to other major neurodegenerative diseases

1 reference

12 December 2020

The spinocerebellar ataxias

1 reference

12 December 2020

Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2

1 reference

12 December 2020

An electrophysiological study of visual processing in spinocerebellar ataxia type 2 (SCA2).

1 reference

12 December 2020

Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

1 reference

12 December 2020

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

1 reference

12 December 2020

Epidemiology of Cuban hereditary ataxia

1 reference

12 December 2020

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

1 reference

12 December 2020

Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

1 reference

12 December 2020

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

1 reference

12 December 2020

Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2

1 reference

12 December 2020

Identifiers

1 reference

24 August 2017

1 reference