Associated Papers
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
Boura I et al.
Genes, 2024
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S et al.
Journal of Neurology, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.
Chaudhuri J et al.
The International Journal of Neuroscience, 2022
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Yu Y et al.
Frontiers in Pediatrics, 2022
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC et al.
Clinical Genetics, 2020
Charcot Marie Tooth disease type 4J with complex central nervous system features.
Orengo JP et al.
Annals of Clinical and Translational Neurology, 2018
Select a paper to view details