Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Founder SPG11 Mutation in the Baniya Community of India.
Agarwal A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease.
Akçimen F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11.
Chen S et al.
Frontiers in Neurology, 2023
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.
Kunta AR et al.
Neurology. Genetics, 2022
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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X et al.
Bmc Neurology, 2020
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Conceição Pereira M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012