Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
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New Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia SignalingMotor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive ReviewStructure prediction of polyglutamine disease proteins: comparison of methods.Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.PAS kinase is activated by direct SNF1-dependent phosphorylation and mediates inhibition of TORC1 through the phosphorylation and activation of Pbp1Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.RNA-binding protein misregulation in microsatellite expansion disordersDysfunctional Calcium and Glutamate Signaling in Striatal Astrocytes from Huntington's Disease Model MiceCouples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.Multiple system atrophy of the cerebellar type: clinical state of the art.Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Nanoparticulate strategies for the treatment of polyglutamine diseases by halting the protein aggregation process.Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia.Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.Modifications of resting state networks in spinocerebellar ataxia type 2.Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.The Multiple Faces of Spinocerebellar Ataxia type 2.Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker.The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins.Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions.SCA2 presenting as a focal dystoniaRoles of Post-translational Modifications in Spinocerebellar AtaxiasCuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2
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P2860
Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Spinocerebellar ataxia type 2: ...... and therapeutic perspectives.
@en
type
label
Spinocerebellar ataxia type 2: ...... and therapeutic perspectives.
@en
prefLabel
Spinocerebellar ataxia type 2: ...... and therapeutic perspectives.
@en
P2093
P2860
P1476
Spinocerebellar ataxia type 2: ...... and therapeutic perspectives.
@en
P2093
B Cisneros
J J Magaña
L Velázquez-Pérez
P2860
P2888
P304
P356
10.1007/S12035-012-8348-8
P577
2012-09-21T00:00:00Z
P5875
P6179
1012587935