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Works (10)

Monogenic mysteries unravel mitochondrial mechanisms

Brain
2021-06-22 | Journal article
DOI: 10.1093/brain/awab098
Contributors: Siri Lynne Rydning; Iselin M Wedding
Source: check_circle
Crossref

Spastic Paraplegia 4

2019-06 | Book
PMID: 20301339
Contributors: Parodi L; Rydning SL; Tallaksen C; Durr A
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Brain : a journal of neurology
2019-04 | Journal article
DOI: 10.1093/brain/awz041
PMID: 30847471
PMC: PMC6439323
Contributors: Rydning SL; Koht J; Sheng Y; Sowa P; Hjorthaug HS; Wedding IM; Erichsen AK; Hovden IA; Backe PH; Tallaksen CME et al.
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Homocarnosinosis: A historical update and findings in the SPG11 gene.

Acta neurologica Scandinavica
2018-05 | Journal article
DOI: 10.1111/ane.12949
PMID: 29732542
Contributors: Sjaastad O; Blau N; Rydning SL; Peters V; Rødningen O; Stray-Pedersen A; Krossnes B; Tallaksen C; Koht J
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

European journal of neurology
2018-04 | Journal article
DOI: 10.1111/ene.13625
PMID: 29528531
Contributors: Rydning SL; Dudesek A; Rimmele F; Funke C; Krüger S; Biskup S; Vigeland MD; Hjorthaug HS; Sejersted Y; Tallaksen C et al.
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PloS one
2017-10 | Journal article
DOI: 10.1371/journal.pone.0186571
PMID: 29023604
PMC: PMC5638532
Contributors: Iqbal Z; Rydning SL; Wedding IM; Koht J; Pihlstrøm L; Rengmark AH; Henriksen SP; Tallaksen CME; Toft M
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Novel UCHL1 mutations reveal new insights into ubiquitin processing.

Human molecular genetics
2017-03 | Journal article
DOI: 10.1093/hmg/ddw391
PMID: 28007905
Contributors: Rydning SL; Backe PH; Sousa MML; Iqbal Z; Øye AM; Sheng Y; Yang M; Lin X; Slupphaug G; Nordenmark TH et al.
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Novel UCHL1 mutations reveal new insights into ubiquitin processing.

Human molecular genetics
2017-03 | Journal article
DOI: 10.1093/hmg/ddx072
PMID: 28334853
Contributors: Rydning SL; Backe PH; Sousa MML; Iqbal Z; Øye AM; Sheng Y; Yang M; Lin X; Slupphaug G; Nordenmark TH et al.
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PloS one
2017-03 | Journal article
DOI: 10.1371/journal.pone.0174667
PMID: 28362824
PMC: PMC5375131
Contributors: Iqbal Z; Rydning SL; Wedding IM; Koht J; Pihlstrøm L; Rengmark AH; Henriksen SP; Tallaksen CM; Toft M
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

European journal of neurology
2016-01 | Journal article
DOI: 10.1111/ene.12937
PMID: 26756429
Contributors: Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM
Source: Self-asserted source
Siri Lynne Rydning via Europe PubMed Central

Peer review (2 reviews for 2 publications/grants)

Review activity for neurogenetics (1)
Review activity for PloS one. (1)
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