(Q34381729)

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

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scholarly article

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1 August 2017

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

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1 August 2017

autosomal recessive cerebellar ataxia

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1 reference

based on heuristic

inferred from title

19

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Jenny van der Wijst

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Jenny van der Wijst

26

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Mathieu Anheim

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Christian Gilissen

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Christian Gilissen

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Hans Scheffer

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Giovanni Stevanin

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Giovanni Stevanin

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Hanns Lochmüller

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Hanns Lochmüller

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Peer Arts

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Joris A Veltman

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Joris Veltman

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Alexandra Durr

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1

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Sascha Vermeer

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Alexander Hoischen

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Alexander Hoischen

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Nine V. A. M. Knoers

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Nine Knoers

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Cyril Goizet

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Mirna Assoum

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Bart van de Warrenburg

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Bart P C van de Warrenburg

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Michel Koenig

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Nathalie Drouot

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Nathalie Drouot

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Berry Kremer

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Erik-Jan Kamsteeg

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Erik-Jan Kamsteeg

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Nienke Wieskamp

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Nienke Wieskamp

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Rowdy P P Meijer

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Rowdy P P Meijer

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Michael Kwint

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Arjan P M de Brouwer

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Arjan de Brouwer

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author name string

Kornelia Neveling

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Slobodanka Todorovic

12

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Vedrana Milic-Rasic

13

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Albert David

17

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Mascha M V A P Schijvenaars

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Angelien Heister

23

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1 August 2017

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publication date

18 November 2010

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American Journal of Human Genetics

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1 August 2017

87

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1 August 2017

6

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813-819

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1 August 2017

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Expression and function of epithelial anoctamins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Detection of nonneutral substitution rates on mammalian phylogenies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Emerging pathogenic pathways in the spinocerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

TMEM16A confers receptor-activated calcium-dependent chloride conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

The transmembrane protein TMEM16A is required for normal development of the murine trachea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Phylogeny of the TMEM16 protein family: some members are overexpressed in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Calcium-activated chloride channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Aligning multiple genomic sequences with the threaded blockset aligner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

A common molecular basis for three inherited kidney stone diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Classification of the hereditary ataxias and paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

6 July 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

27 October 2018

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

27 October 2018

Expression patterns of the Tmem16 gene family during cephalic development in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

27 October 2018

Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

27 October 2018

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997370

27 October 2018

Identifiers

10.1016/J.AJHG.2010.10.015

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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