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Plos Genetics|May 14, 2016
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA MaturationAna Bratic, Paula Clemente, Javier Calvo-Garrido, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|June 11, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseasesDirenis Erdinc, Bertil Macao, Sebastian Valenzuela, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 16, 2016
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathySofia Ygberg, Karin Naess, Mats Eriksson, et al.
Biomedicines|December 23, 2022
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and EpilepsyRaquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Frontiers in Neurology|April 12, 2021
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)Martin Engvall, Aki Kawasaki, Valerio Carelli, et al.
European Journal of Human Genetics : EJHG|May 7, 2009
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPAMichela Barbaro, Antonio Balsamo, Britt Marie Anderlid, et al.
Human Mutation|April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex DeficiencyHelene Bruhn, Karin Naess, Sofia Ygberg, et al.
International Journal of Neonatal Screening|October 19, 2020
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of DataLene Sörensen, Ulrika von Döbeln, Henrik Åhlman, et al.
Epilepsia|April 4, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsOlivia J Henry, Sofia Ygberg, Michela Barbaro, et al.
JIMD Reports|November 20, 2019
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP geneKristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, et al.
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