Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (Q90110287)

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11 April 2020

title

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (English)

1 reference

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11 April 2020

main subject

cerebral calcification

1 reference

Alkyoni Athanasiou-Fragkouli

inferred from title

author

10

object named as

Alkyoni Athanasiou-Fragkouli

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11 April 2020

author name string

Lucia V Schottlaender

1

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11 April 2020

Rosella Abeti

2

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11 April 2020

Zane Jaunmuktane

3

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11 April 2020

Carol Macmillan

4

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11 April 2020

Viorica Chelban

5

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11 April 2020

Benjamin O'Callaghan

6

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11 April 2020

John McKinley

7

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11 April 2020

Reza Maroofian

8

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11 April 2020

Stephanie Efthymiou

9

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11 April 2020

Raeburn Forbes

11

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11 April 2020

Marc P M Soutar

12

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11 April 2020

John H Livingston

13

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11 April 2020

Bernardett Kalmar

14

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Orlando Swayne

15

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11 April 2020

Gary Hotton

16

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11 April 2020

SYNAPS Study Group

17

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11 April 2020

Alan Pittman

18

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11 April 2020

João Ricardo Mendes de Oliveira

19

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11 April 2020

Maria de Grandis

20

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11 April 2020

Angela Richard-Loendt

21

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11 April 2020

Francesca Launchbury

22

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11 April 2020

Juri Althonayan

23

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11 April 2020

Gavin McDonnell

24

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11 April 2020

Aisling Carr

25

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11 April 2020

Suliman Khan

26

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11 April 2020

Christian Beetz

27

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11 April 2020

Atil Bisgin

28

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11 April 2020

Sevcan Tug Bozdogan

29

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11 April 2020

Amber Begtrup

30

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11 April 2020

Erin Torti

31

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11 April 2020

Linda Greensmith

32

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11 April 2020

Paola Giunti

33

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11 April 2020

Patrick J Morrison

34

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11 April 2020

Sebastian Brandner

35

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11 April 2020

Michel Aurrand-Lions

36

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11 April 2020

Henry Houlden

37

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11 April 2020

publication date

1 March 2020

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American Journal of Human Genetics

11 April 2020

published in

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11 April 2020

volume

106

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11 April 2020

issue

3

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11 April 2020

page(s)

412-421

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Idiopathic nonarteriosclerotic cerebral calcification (Fahr's disease): an electron microscopic study

11 April 2020

cites work

1 reference

12 December 2020

Heterogeneity of endothelial junctions is reflected by differential expression and specific subcellular localization of the three JAM family members

1 reference

12 December 2020

Severe vascular disturbance in a case of familial brain calcinosis

1 reference

12 December 2020

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

1 reference

12 December 2020

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

1 reference

12 December 2020

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

1 reference

12 December 2020

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes

1 reference

12 December 2020

Primary familial brain calcification: update on molecular genetics

1 reference

12 December 2020

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

1 reference

12 December 2020

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.

1 reference

12 December 2020

Somatodendritic Expression of JAM2 Inhibits Oligodendrocyte Myelination

1 reference

12 December 2020

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

1 reference

12 December 2020

Mice Knocked Out for the Primary Brain Calcification–Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time

1 reference

12 December 2020

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

1 reference

12 December 2020

Lack of junctional adhesion molecule (JAM)-B ameliorates experimental autoimmune encephalomyelitis

1 reference

12 December 2020

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

1 reference

12 December 2020

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

1 reference

12 December 2020