Associated Papers
Charcot-Marie-Tooth disease and related neuropathies.
Burns J et al.
Nature Reviews. Disease Primers, 2026
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS et al.
Cold Spring Harbor Perspectives in Biology, 2024
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D et al.
European Journal of Neurology, 2020
Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.
Won SY et al.
Stem Cells (dayton, Ohio), 2020
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.
Kazamel M et al.
Neurology. Genetics, 2020
Charcot-Marie-Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations.
Yamagishi Y et al.
Journal of the Neurological Sciences, 2020
Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease.
Nakamura T
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
Šafka Brozková D et al.
Brain : a Journal of Neurology, 2013
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H et al.
Molecular Syndromology, 2012
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M et al.
Brain : a Journal of Neurology, 2011
Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.
Cheng S et al.
Clinical Neuropathology, 0
Select a paper to view details