Siri Lynne Rydning

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Zafar Iqbal, Siri Lynne Rydning, Iselin Marie Wedding et al. · PLoS ONE · 2017 · 65 citations · Full text

Genetics, Genetic Epidemiology, High Throughput +20

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna et al. · Nature Communications · 2021 · 50 citations · Full text

A novel heterozygous variant in <i>ERLIN2</i> causes autosomal dominant pure hereditary spastic paraplegia

Siri Lynne Rydning, Aleš Dudešek, Florian Rimmele et al. · European Journal of Neurology · 2018 · 42 citations

Novel<i>UCHL1</i>mutations reveal new insights into ubiquitin processing

Siri Lynne Rydning, Paul Hoff Backe, Mirta Mittelstedt Leal de Sousa et al. · Human Molecular Genetics · 2016 · 32 citations · Full text

Protein Function, Mendelian Disorder, Genetic Disorder +14

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Deepa Rajan, Sukhleen Kour, Tyler R. Fortuna et al. · Frontiers in Cell and Developmental Biology · 2022 · 18 citations · Full text