(Q47649937)

4 February 2018

title

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

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main subject

spinocerebellar ataxia

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8

Olaf Riess

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4 February 2018

Ludger Schöls

7

object named as

Ludger Schöls

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4 February 2018

author name string

Arndt Rolfs

1

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4 February 2018

Arnulf H Koeppen

2

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4 February 2018

Ingrid Bauer

3

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4 February 2018

Peter Bauer

4

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Sven Buhlmann

5

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4 February 2018

Helge Topka

6

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publication date

1 September 2003

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4 February 2018

published in

Annals of Neurology

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4 February 2018

volume

54

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4 February 2018

issue

3

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4 February 2018

page(s)

367-375

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4 February 2018

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

cites work

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

Glutamine repeats and neurodegeneration

21 January 2018

1 reference

The spinocerebellar ataxias: order emerges from chaos

21 January 2018

1 reference

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

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

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

21 January 2018

1 reference

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

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Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

21 January 2018

1 reference

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

21 January 2018

1 reference

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

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

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

21 January 2018

1 reference

Hereditary ataxia and the sixth chromosome

21 January 2018

1 reference

Extrapyramidal motor signs in degenerative ataxias

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10676

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4 February 2018

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4 February 2018