Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Doronzio PN et al.
Journal of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.
Regensburger M et al.
Nutrients, 2022
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.
Utz KS et al.
Orphanet Journal of Rare Diseases, 2022
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X et al.
Bmc Neurology, 2020
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 2018
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V et al.
Brain : a Journal of Neurology, 2014
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.
Stromillo ML et al.
Journal of Neurology, 2011
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
Crimella C et al.
Journal of Medical Genetics, 2009
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS et al.
Human Mutation, 2009
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G et al.
Brain : a Journal of Neurology, 2008
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U et al.
Annals of Neurology, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G et al.
Nature Genetics, 2007