(Q48830839)

16 February 2018

title

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. (English)

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16 February 2018

autosomal recessive cerebellar ataxia

main subject

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author

Hanns Lochmüller

6

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16 February 2018

Radka Kaneva

5

object named as

Radka Kaneva

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16 February 2018

Luba Kalaydjieva

7

object named as

Luba Kalaydjieva

1 reference

16 February 2018

author name string

Teodora Chamova

1

1 reference

16 February 2018

Laura Florez

2

1 reference

16 February 2018

Velina Guergueltcheva

3

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16 February 2018

Margarita Raycheva

4

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Ivailo Tournev

8

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16 February 2018

publication date

19 October 2011

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16 February 2018

published in

Journal of Neurology

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16 February 2018

volume

259

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16 February 2018

issue

5

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16 February 2018

page(s)

906-911

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16 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-011-6276-6

exact match

0 references

cites work

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

A newly discovered founder population: the Roma/Gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Origins and divergence of the Roma (gypsies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Mutation history of the roma/gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Cerebellar involvement in executive control

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Anatomical evidence for cerebellar and basal ganglia involvement in higher cognitive function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6276-6

Ataxias with autosomal, X-chromosomal or maternal inheritance.

21 January 2018

1 reference

12 December 2020

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

1 reference

12 December 2020

A study of tremor in multiple sclerosis

1 reference

12 December 2020

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

1 reference

12 December 2020

10.1007/S00415-011-6276-6

Identifiers

DOI

1 reference

16 February 2018

1 reference

16 February 2018