(Q45306665)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17934876%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17934876%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 17

8 January 2020

main subject

Italy

0 references

1 reference

7

1 reference

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8 January 2020

Franco Taroni

11

1 reference

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8 January 2020

Cinzia Gellera

12

1 reference

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8 January 2020

Giorgio Giaccone

9

1 reference

ORCID Public Data File 2021

author name string

Caterina Mariotti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17934876%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Dario Alpini

2

1 reference

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8 January 2020

Roberto Fancellu

3

1 reference

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8 January 2020

Paola Soliveri

4

1 reference

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8 January 2020

Marina Grisoli

5

1 reference

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8 January 2020

Sabrina Ravaglia

6

1 reference

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8 January 2020

Vincenza Fetoni

8

1 reference

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8 January 2020

Alessia Castucci

10

1 reference

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8 January 2020

Stefano Di Donato

13

1 reference

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8 January 2020

language of work or name

1 reference

15 October 2007

1 reference

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8 January 2020

1 reference

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8 January 2020

volume

254

1 reference

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8 January 2020

issue

11

1 reference

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8 January 2020

page(s)

1538-1546

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-007-0579-7

8 January 2020

exact match

0 references

cites work

CAG repeats in Restless Legs syndrome.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-007-0579-7

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

1 reference

12 December 2020

TATA-binding protein in neurodegenerative disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

1 reference

12 December 2020

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

1 reference

12 December 2020

Pathways to motor incoordination: the inherited ataxias

1 reference

12 December 2020

Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7.

1 reference

12 December 2020

"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.

1 reference

12 December 2020

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

1 reference

12 December 2020

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

1 reference

12 December 2020

Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1

1 reference

12 December 2020

Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).

1 reference

12 December 2020

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

1 reference

12 December 2020

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

1 reference

12 December 2020

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

1 reference

12 December 2020

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

1 reference

12 December 2020

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

1 reference

12 December 2020

Ocular motor abnormalities in Huntington's disease

1 reference

12 December 2020

1 reference

12 December 2020

SCA17 homozygote showing Huntington's disease-like phenotype.

1 reference

12 December 2020

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

1 reference

12 December 2020

Comparison of oculomotor findings in the progressive ataxia syndromes

1 reference

12 December 2020

Oculomotor testing in the differential diagnosis of degenerative ataxic disorders.

1 reference

12 December 2020

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

1 reference

12 December 2020

Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia

1 reference

12 December 2020

Oculomotor phenotypes in autosomal dominant ataxias.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A neuropsychological instrument adding to the description of patients with suspected cortical dementia: the Milan overall dementia assessment

1 reference

12 December 2020

Basal ganglia involvement of a patient with SCA 17--a new form of autosomal dominant spinocerebellar ataxia

1 reference

12 December 2020

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

1 reference

12 December 2020

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

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

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

12 December 2020

Electrophysiologic characterization in spinocerebellar ataxia 17.

1 reference

12 December 2020

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

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

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

1 reference

12 December 2020