| 1 | EXOSC8, PCH1C
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| Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
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| Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A.
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| Eur J Paediatr Neurol ur J Paediatr Neurol. 2018 Apr 3. pii: S1090-3798(17)31967-0. doi: 10.1016/j.ejpn.2018.03.011. [Epub ahead of print]
2018
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| 2 | EXOSC3, EXOSC8, PCH1B, PCH1C
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| The RNA exosome and RNA exosome-linked disease.
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| Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB.
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| RNA 24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1.
2018
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| 3 | EXOSC3, EXOSC8, PCH1B, PCH1C, RBM7
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| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
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| Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.
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| Hum Mol Genet 25(14):2985-2996. Epub 2016 May 18.
2016
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| 4 | ANO10, EXOSC8, PCH1C, SCAR10
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| Respiratory chain deficiency in nonmitochondrial disease.
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| Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.
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| Neurol Genet 1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. 2015
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