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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.Hormone Research in Paediatrics|March 30, 2012
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasiaMichela Barbaro, Susanne Bens, Andrea Haake, et al.Plos Genetics|August 1, 2019
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivoAleksandra Pajak, Isabelle Laine, Paula Clemente, et al.BMC Global and Public Health|June 16, 2026
Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registrySanna Mansoob, Dan Hellström, Magnus Burstedt, 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.International Journal of Neonatal Screening|September 22, 2025
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, et al.Nature Communications|December 23, 2024
Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogasterNajla El Fissi, Florian A Rosenberger, Kai Chang, et al.Human Mutation|January 27, 2021
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7Sandrina P Correia, Marco F Moedas, Karin Naess, et al.Human Molecular Genetics|April 22, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gammaTriinu Siibak, Paula Clemente, Ana Bratic, et al.Journal of Internal Medicine|July 8, 2024
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signsMartin Paucar, Daniel Nilsson, Martin Engvall, et al.Pageof 11