Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 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
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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
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