Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review-Reference-Cited by-同舟云学术

Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

Published:2021-08-25 Issue:11 Volume:36 Page:2468-2480
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Balck Alexander¹²^ORCID,Schaake Susen¹,Kuhnke Neele Sophie¹,Domingo Aloysius¹³,Madoev Harutyun¹,Margolesky Jason⁴,Dobricic Valerija¹⁵,Alvarez‐Fischer Daniel¹,Laabs Björn‐Hergen⁶,Kasten Meike¹⁷,Luo Wei⁸,Nicolas Gael⁹^ORCID,Marras Connie¹⁰,Lohmann Katja¹^ORCID,Klein Christine¹,Westenberger Ana¹

Affiliation:

1. Institute of Neurogenetics University of Lübeck and University Hospital Schleswig‐Holstein Lübeck Germany

2. Department of Neurology University of Lübeck and University Hospital Schleswig‐Holstein Lübeck Germany

3. Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA

4. Department of Neurology University of Miami Miller School of Medicine Miami Florida USA

5. Lübeck Interdisciplinary Platform for Genome Analytics University of Lübeck Lübeck Germany

6. Department of Psychiatry and Psychotherapy University of Lübeck Lübeck Germany

7. Institute of Medical Biometry and Statistics University of Lübeck Lübeck Germany

8. Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine Zhejiang China

9. Department of Genetics and CNR‐MAJ Normandie University, UNIROUEN Inserm Rouen France

10. The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Toronto Western Hospital, University of Toronto Toronto Canada

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28753

Reference30 articles.

1. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults

2. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

3. Heredofamilial Brain Calcinosis Syndrome

4. A Novel Phenotype Associated with CaSR ‐Related Familial Brain Calcifications

5. The Genetics of Primary Familial Brain Calcifications

Cited by 46 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification;Movement Disorders;2024-09-04

2. Unraveling Primary Familial Brain Calcification Mechanisms: Are NAA60 and SLC20A2 Partners in Crime?;Movement Disorders;2024-09-02

3. Structural insights into the mechanism of phosphate recognition and transport by human XPR1;2024-08-29

4. Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications;Acta Neuropathologica Communications;2024-08-23

5. Structural insights into the mechanism of phosphate recognition and transport by human XPR1;2024-08-20