Novel findings in a Swedish primary familial brain calcification cohort-Reference-Cited by-同舟云学术

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Novel findings in a Swedish primary familial brain calcification cohort

Published:2024-05 Issue: Volume:460 Page:123020
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Sennfält Stefan,Gustavsson Peter,Malmgren Helena,Gilland Eric,Almqvist Håkan,Oscarson Mikael,Engvall Martin,Björkhem Ingemar,Nilsson Daniel,Lagerstedt-Robinson Kristina,Svenningsson Per,Paucar Martin

Funder

Promobilia foundation

Knut and Alice Wallenberg Foundation

Region Stockholm

Publisher

Elsevier BV

Reference26 articles.

1. Genetics and molecular biology of brain calcification;Deng;Ageing Res. Rev.,2015

2. Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene review;Balck;Mov. Disord.,2021

3. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis;Wang;Nat. Genet.,2012

4. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice;Keller;Nat. Genet.,2013

5. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export;Legati;Nat. Genet.,2015

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