Inborn errors of coenzyme A metabolism and neurodegeneration
Author:
Funder
Fondazione Telethon
Fondazione Pierfranco e Luisa Mariani
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-018-0193-0.pdf
Reference49 articles.
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2. Almannai M, Alsamri A, Alqasmi A et al (2018) Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet. https://doi.org/10.1111/cge.13210
3. Annesi G, Gagliardi M, Iannello G et al (2016) Mutational analysis of COASY in an Italian patient with NBIA. Parkinsonism Relat Disord 28:150–151. https://doi.org/10.1016/j.parkreldis.2016.03.011
4. Aoun M, Corsetto PA, Nugue G et al (2017) Changes in red blood cell membrane lipid composition: a new perspective into the pathogenesis of PKAN. Mol Genet Metab. https://doi.org/10.1016/j.ymgme.2017.04.006
5. Arber C, Angelova PR, Wiethoff S et al (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One 12:e0184104. https://doi.org/10.1371/journal.pone.0184104
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