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JIMD Reports|July 30, 2016
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014Annika Ohlsson, Helene Bruhn, Anna Nordenström, et al.
Biochimica Et Biophysica Acta|December 24, 2008
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndromeKarin Naess, Christoph Freyer, Helene Bruhn, et al.
Neurology. Genetics|November 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.
JIMD Reports|February 23, 2013
Complete Deletion of a POLG1 Allele in a Patient with Alpers SyndromeKarin Naess, Michela Barbaro, Helene Bruhn, 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.
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.
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.
The Journal of Pediatrics|August 23, 2020
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory ChainKarin Naess, Helene Bruhn, Henrik Stranneheim, et al.
Neurology. Genetics|March 18, 2021
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A Schober, et al.
Stem Cell Reports|March 5, 2019
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal NeurodifferentiationJavier Calvo-Garrido, Camilla Maffezzini, Florian A Schober, et al.
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