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Parkinsonism and Related Disorders, ISSN 1353-8020, 05/2018, Volume 50, pp. 119 - 120
Increasing evidence supports a link between multiple system atrophy and coenzyme Q (CoQ ) biosynthesis. However, so far this knowledge was not translated into... 
Therapy | COQ2 | Coenzyme Q10 | Neurodegeneration | Coenzyme Q | CLINICAL NEUROLOGY | Atrophy | Enzymes
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 7, pp. 704 - 706
Journal Article
by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 289 - 291
Primary disorders of the human coenzyme Q (CoQ ) biosynthesis pathway are a known cause of severe pediatric diseases. So far, oral administration of CoQ is the... 
Multiple system atrophy | Neurological | Treatment | Coenzyme Q10 | Kidney | Coenzyme Q
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 10/2016, Volume 375, Issue 17, p. 1699
Journal Article
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15824
Across a variety of Mendelian disorders, similar to 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing... 
PERRAULT SYNDROME | COMPLEX | SNP | METABOLISM | RANDOM MONOALLELIC EXPRESSION | ORNITHINE | MULTIDISCIPLINARY SCIENCES | DOMINANT | MUTATIONS | ASSOCIATION | TOOL
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2019, Volume 95, Issue 6, pp. 734 - 735
A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual. 
GENETICS & HEREDITY | Mental illness
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2018, Volume 41, Issue 6, pp. 1293 - 1294
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and... 
MEDICINE, RESEARCH & EXPERIMENTAL | DISORDER | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Glycosylation | Skin | Mutation | Ichthyosis
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2013, Volume 36, Issue 6, pp. 1081 - 1082
Journal Article