Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (Q38366291)

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1 March 2020

review article

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title

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification (English)

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1 March 2020

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3

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Gael Nicolas

4

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Yanick J. Crow

7

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Dominique Campion

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1 March 2020

author name string

Roberta R Lemos

1

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1 March 2020

Eliana M Ramos

2

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Emma M Jenkinson

5

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John H Livingston

6

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1 March 2020

Giovanni Coppola

9

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João R M Oliveira

10

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publication date

6 April 2015

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1 March 2020

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volume

36

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issue

5

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page(s)

489-495

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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

1 March 2020

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First report of a de novo mutation at SLC20A2 in a patient with brain calcification

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

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Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

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Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

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Recognizable phenotypes associated with intracranial calcification

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Brain calcifications induce neurological dysfunction that can be reversed by a bone drug

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

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PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

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Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

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Identical twins with Idiopathic Basal Ganglia Calcification ("Fahr's Disease") presenting with a remarkably similar pattern of neuroimaging findings

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22778

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25726928%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

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