Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q47649937

about

Treatment for dysphagia (swallowing difficulties) in hereditary ataxia Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease Cell biology of spinocerebellar ataxia Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice.Parkinsonism in spinocerebellar ataxia Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.Brain pathology of spinocerebellar ataxias.Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor.A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome.Hereditary Cerebellar Ataxias: A Korean Perspective.The Pathogenic Role of Low Range Repeats in SCA17.Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.Pathways to motor incoordination: the inherited ataxias.Recent advances in hereditary spinocerebellar ataxias.Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17).Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice.Consensus paper: radiological biomarkers of cerebellar diseases Genetic and molecular aspects of spinocerebellar ataxias.Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.Activation of gene transcription by heat shock protein 27 may contribute to its neuronal protection Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Nuclear ataxias.Movement disorders in spinocerebellar ataxias.Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Polyglutamine (PolyQ) diseases: genetics to treatments.Non-Ataxic Presenting Symptoms of Dominant Ataxias.Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts.Genetically modified rodent models of SCA17.Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis.Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.Modifications of resting state networks in spinocerebellar ataxia type 2.From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.Morality: incomplete without the cerebellum?Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17.Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

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

http://www.wikidata.org/entity/Q47649937

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Clinical features and neuropat ...... pinocerebellar ataxia (SCA17).

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia

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Clinical features and neuropat ...... pinocerebellar ataxia (SCA17).

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia

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Clinical features and neuropat ...... pinocerebellar ataxia (SCA17).

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia

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Annals of Neurology

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Clinical features and neuropat ...... pinocerebellar ataxia (SCA17).

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Arndt Rolfs

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Arnulf H Koeppen

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Helge Topka

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Ingrid Bauer

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Peter Bauer

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Sven Buhlmann

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P2860

Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Glutamine repeats and neurodegeneration.

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

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions.

The spinocerebellar ataxias: order emerges from chaos.

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

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10.1002/ANA.10676

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