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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Neurogenetics - 1 Jul 2024

Brankovic Marija, Ivanovic Vukan, Basta Ivana, Khang Rin, Lee Eugene, Stevic Zorica, Ralic Branislav, Tubic Radoje, Seo GoHun, Markovic Vladana, Bozovic Ivo, Svetel Marina, Marjanovic Ana, Veselinovic Nikola, Mesaros Sarlota, Jankovic Milena, Savic-Pavicevic Dusanka, Jovin Zita, Novakovic Ivana, Lee Hane, Peric Stojan

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in...

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Cohort Studies
DNA Copy Number Variations
Exome Sequencing
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 38499745
DOI: 10.1007/s10048-024-00755-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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