Associated Papers
Axon initial segment damage and hyperexcitability in a mutant mouse with increased calpain-dependent cleavage of αII-Spectrin.
Hobbib RL et al.
Neurobiology of Disease, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
40000157 (PubMed )
Supplement: CGE-108-318-s003.docx
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36331550 (PubMed )
Supplement: mmc1.pdf
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Select a paper to view details