(Q46134686)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21812104%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII (English)

1 reference

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9 February 2020

1 reference

13

1 reference

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9 February 2020

Dilek Colak

4

1 reference

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9 February 2020

Heinz Jungbluth

14

1 reference

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9 February 2020

author name string

Namik Kaya

1

1 reference

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9 February 2020

Hesham Aldhalaan

2

1 reference

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9 February 2020

Banan Al-Younes

3

1 reference

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9 February 2020

Taghreed Shuaib

5

1 reference

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9 February 2020

Fahad Al-Mohaileb

6

1 reference

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9 February 2020

Abdulaziz Al-Sugair

7

1 reference

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9 February 2020

Michael Nester

8

1 reference

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9 February 2020

Suad Al-Yamani

9

1 reference

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9 February 2020

Albandary Al-Bakheet

10

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9 February 2020

Nadia Al-Hashmi

11

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9 February 2020

Moeen Al-Sayed

12

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9 February 2020

Mohammed Al-Owain

15

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9 February 2020

publication date

2 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21812104%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

9 February 2020

published in

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9 February 2020

volume

156B

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9 February 2020

issue

7

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9 February 2020

page(s)

826-834

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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

9 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Differential expression of the carbonic anhydrase genes for CA VII (Car7) and CA-RP VIII (Car8) in mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31227

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.31227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21812104%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference