Associated Papers
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.
Bosisio L et al.
Frontiers in Pediatrics, 2025
Spectrum of Clinical Variability with SEPT9 Gene Mutation in Hereditary Neuralgic Amyotrophy: Understanding the Pathogenesis Using Molecular Dynamics Simulation Study.
Bhatti A et al.
Neurology India, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Septin-microtubule association via a motif unique to isoform 1 of septin 9 tunes stress fibers.
Kuzmić M et al.
Journal of Cell Science, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Grosse GM et al.
Bmc Medical Genetics, 2020
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
Neubauer K et al.
Cytoskeleton (hoboken, N.j.), 2019
A rare cause of brachial plexopathy: hereditary neuralgic amyotrophy.
Serin HM et al.
Turk Pediatri Arsivi, 2019
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules.
Bai X et al.
The Journal of Cell Biology, 2013
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Hannibal MC et al.
Neurology, 2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Landsverk ML et al.
Human Molecular Genetics, 2009
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
Laccone F et al.
Clinical Genetics, 2008
Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.
Hoque R et al.
Journal of Clinical Neuromuscular Disease, 2008
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
Sudo K et al.
Human Mutation, 2007
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
Meuleman J et al.
Human Genetics, 2001
Select a paper to view details