Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30842647 (PubMed )
Supplement: 41436_2019_464_MOESM2_ESM.xlsx › Summary
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf
Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons.
Osaki T et al.
Science Advances, 2018
30324134 (PubMed )
Supplement: aat5847_SM.pdf
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
Erichsen AK et al.
European Journal of Neurology, 2007
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Depienne C et al.
Journal of Medical Genetics, 2006
Spastin mutations in sporadic adult-onset upper motor neuron syndromes.
Brugman F et al.
Annals of Neurology, 2005
Select a paper to view details