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Brain : a Journal of Neurology|September 2, 2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita Horvath, John P Kemp, Helen A L Tuppen, et al.
Brain : a Journal of Neurology|December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Brain : a Journal of Neurology|August 13, 2015
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyJoerg P Halter, W Michael, M Schüpbach, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Brain : a Journal of Neurology|November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesSemra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.
Scientific Reports|January 27, 2025
Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control studyRajish S K Shil, Adam Seed, Nkongho Egbe Franklyn, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
Nature Communications|February 5, 2025
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
Brain : a Journal of Neurology|December 27, 2013
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathyCarla Giordano, Luisa Iommarini, Luca Giordano, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
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