Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification (Q45750904)

15 December 2017

title

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification (English)

1 reference

15 December 2017

Romain Lefaucheur

12

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Boris Chaumette

Boris Chaumette

15

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Xavier Ayrignac

Xavier Ayrignac

8

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Thibaud Lebouvier

Thibaud Lebouvier

25

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Luc Defebvre

9

Luc Defebvre

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32

Didier Hannequin

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Dominique Campion

31

Dominique Campion

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15 December 2017

author name string

Gaël Nicolas

1

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Cyril Pottier

2

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Camille Charbonnier

3

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Lucie Guyant-Maréchal

4

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Isabelle Le Ber

5

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Jérémie Pariente

6

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Pierre Labauge

7

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David Maltête

10

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Olivier Martinaud

11

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Olivier Guillin

13

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David Wallon

14

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Philippe Rondepierre

16

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Nathalie Derache

17

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Guillaume Fromager

18

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Stéphane Schaeffer

19

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Pierre Krystkowiak

20

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Christophe Verny

21

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Snejana Jurici

22

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Mathilde Sauvée

23

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Marc Vérin

24

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Olivier Rouaud

26

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Christel Thauvin-Robinet

27

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Stéphane Rousseau

28

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Anne Rovelet-Lecrux

29

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Thierry Frebourg

30

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French IBGC Study Group

33

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language of work or name

English

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publication date

24 September 2013

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15 December 2017

published in

Brain

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15 December 2017

volume

136

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issue

Pt 11

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15 December 2017

page(s)

3395-3407

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15 December 2017

Heredofamilial brain calcinosis syndrome

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Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification ("Fahr's disease").

21 January 2018

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Incidental findings in brain computed tomography scans of 3000 head trauma patients

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Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

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Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism.

21 January 2018

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

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Psychopathological alterations in cases of symmetrical basal ganglia sclerosis.

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Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

21 January 2018

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Recognizable phenotypes associated with intracranial calcification

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Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry

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Clinical correlations of CT scan-detected calcifications of the basal ganglia

21 January 2018

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

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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

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Basal ganglia calcification and psychotic symptoms in the very old.

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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT255

1 reference

15 December 2017

PubMed ID

24065723

1 reference

15 December 2017