Associated Papers
A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families.
Akram R et al.
Pakistan Journal of Medical Sciences, 2024
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
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