V. Baildam-em, N. Bahi-buisson, K. M. Bailey, C. Barnerias, M. Barth et al., Am J Med Genet A, vol.167, pp.296-312, 2015.

F. Rutsch, M. Macdougall, C. Lu, I. Buers, . Mamaeva-o et al., A specific IFIh1 gain-of-function mutation causes Singleton-Merten syndrome, Am J Hum Genet, vol.96, pp.275-82, 2015.

L. M. De-carvalho, G. Ngoumou, J. W. Park, N. Deigendesch, N. Kitabayashi et al., Musculoskeletal disease in MDA5-related type I Interferonopathy: a Mendelian mimic of Jaccoud's arthropathy, Arthritis Rheumatol, vol.69, pp.2081-91, 2017.

I. Buers, G. I. Rice, and Y. J. Crow, MDA5-Associated neuroinflammation and the Singleton-Merten syndrome: two faces of the same type I Interferonopathy spectrum, J Interferon Cytokine Res, vol.37, pp.214-223, 2017.

N. J. Lake, A. G. Compton, S. Rahman, and D. Thorburn, Leigh syndrome: one disorder, more than 75 monogenic causes, Ann Neurol, vol.79, pp.190-203, 2016.

D. Pronicka-e,-piekutowska-abramczuk, C. E. Trubicka, J. Rokicki, D. Karkuci?ska-wi?ckowska, A. et al., New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre, J Transl Med, vol.14, p.174, 2016.

G. I. Rice, N. Kitabayashi, M. Barth, B. T. , B. Ace et al., Neuropediatrics, vol.48, pp.166-84, 2017.

L. Jh, J. Lin, D. Rc, D. Gill, . Brogan-p et al., A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1, J Med Genet, vol.51, pp.76-82, 2014.

K. Tojo, Y. Sekijima, . Suzuki-t, N. Suzuki, Y. Tomita et al., Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAr1 mutation, Mov Disord, vol.21, pp.1510-1513, 2006.

J. Rahman, A. Noronha, I. Rahman, and S. , Leigh map: a novel computational diagnostic resource for mitochondrial disease, Ann Neurol, vol.81, pp.9-16, 2017.

J. Rahman and S. Rahman, Mitochondrial medicine in the omics era, The Lancet, vol.391, pp.2560-74, 2018.

J. Mollet, I. Giurgea, D. Schlemmer, G. Dallner, D. Chretien et al., prenyldiphosphate synthase, subunit 1 (pDSS1) and oh-benzoate polyprenyltransferase (CoQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders, J Clin Invest, vol.117, pp.765-72, 2007.

L. A. Adang, D. B. Frank, A. Gilani, A. Takanohashi, N. Ulrick et al., Aicardi goutières syndrome is associated with pulmonary hypertension, Mol Genet Metab, vol.125, pp.351-359, 2018.

K. Kothur, S. Bandodkar, S. Chu, L. Wienholt, A. Johnson et al., An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation, Neurology, vol.90, pp.289-91, 2018.

M. Ke, N. Martin, D. Je, N. Cordeiro, B. D. Oates et al., Jak 1/2 blockade in MDA5 gain-of-function, J Clin Immunol, vol.38, pp.844-850, 2018.