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Neuromuscular Disorders : NMD|May 19, 2012
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patientsJoy Irobi, Anne Holmgren, Vicky De Winter, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex IIRudy Van Coster, S Seneca, J Smet, et al.Frontiers in Neurology|October 10, 2022
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel <i>de novo</i> heterozygous <i>DNM1L</i> variantCharlène Lhuissier, Bart E Wagner, Amy Vincent, et al.Seizure|August 10, 2005
Steroids in intractable childhood epilepsy: clinical experience and review of the literatureHelene Verhelst, Paul Boon, Gunnar Buyse, et al.Human Reproduction (Oxford, England)|February 15, 2014
A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse modelJitesh Neupane, Mado Vandewoestyne, Björn Heindryckx, et al.AJNR. American Journal of Neuroradiology|October 10, 2002
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellumMarjo S van der Knaap, SakkuBai Naidu, Petra J W Pouwels, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 3, 2013
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, et al.Journal of Clinical Immunology|October 22, 2013
Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitisFilomeen Haerynck, Patrick Stordeur, Johan Vandewalle, et al.Nucleic Acid Therapeutics|June 30, 2023
mTOR Inhibition Enhances Delivery and Activity of Antisense Oligonucleotides in Uveal Melanoma CellsShanna Dewaele, Louis Delhaye, Boel De Paepe, et al.Mitochondrion|September 26, 2013
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasmsCarter D Wray, Marisa W Friederich, Desiree du Sart, et al.Pageof 13