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
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Baumgartner D et al.
Journal of Neuromuscular Diseases, 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
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K et al.
Neurological Research, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Zídková J et al.
Ceskoslovenska Patologie, 2021
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
Khani M et al.
Molecular Genetics & Genomic Medicine, 2020
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Popp B et al.
Scientific Reports, 2018
[Significance of whole exome sequencing in the diagnostics of rare neurological diseases - own experiences through a case presenting with ataxia].
Balicza P et al.
Orvosi Hetilap, 2018
Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.
Schneider-Gold C et al.
Journal of the Neurological Sciences, 2017
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P et al.
Journal of the Neurological Sciences, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio A et al.
Brain : a Journal of Neurology, 2010
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
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U et al.
Annals of Neurology, 2007