Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
An Updated Classification of Primary Lymphedema Based on Age of Onset, Lymphatic Anomalies, and Genetics.
Liu NF et al.
Lymphology, 2023
Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Geng X et al.
Lymphology, 2022
Abnormal lymphatic phenotype in a CRISPR mouse model of the human lymphedema-causing Connexin47 R260C point mutation.
Mustacich DJ et al.
Lymphology, 2021
Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function.
Meens MJ et al.
Plos One, 2017
GJC2 missense mutations cause human lymphedema.
Ferrell RE et al.
American Journal of Human Genetics, 2010
Select a paper to view details