Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families.
Akram R et al.
Pakistan Journal of Medical Sciences, 2024
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi TUK et al.
Molecular Genetics and Genomics : Mgg, 2024
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
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
Khani M et al.
Molecular Genetics & Genomic Medicine, 2020
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
Zulfiqar S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
Severe axonal neuropathy is a late manifestation of SPG11.
Manole A et al.
Journal of Neurology, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
SPG11 Presenting with Tremor.
Schneider SA et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2012
Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11.
Rajakulendran S et al.
Journal of Clinical Neurology (seoul, Korea), 2011
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Paisan-Ruiz C 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