Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Structural basis for membrane remodeling by the AP5-SPG11-SPG15 complex.
Mai X et al.
Nature Structural & Molecular Biology, 2025
Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.
Scherpelz KP et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.
Fortier M et al.
Neurobiology of Disease, 2024
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 2022
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.
Carrasco Salas P et al.
The International Journal of Neuroscience, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.
Alsemari A et al.
The Application of Clinical Genetics, 2018
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Branchu J et al.
Neurobiology of Disease, 2017
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C et al.
Brain : a Journal of Neurology, 2016
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J et al.
Human Molecular Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
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
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Boukhris A et al.
Clinical 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
SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
Samaranch L et al.
Neurology, 2008
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
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Boukhris A et al.
Archives 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
Case Series of Autosomal Recessive Hereditary Spastic Paraplegia in Adults.
Chakor RT et al.
Annals of Indian Academy of Neurology, 0