1. 4-Hydroxybenzoic acid for multiple system atrophy?. (May 2018) Authors: Distelmaier, Felix Journal: Parkinsonism & related disorders Issue: Volume 50(2018) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 4‐Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency. Issue 12 (17th October 2017) Authors: Herebian, Diran; Seibt, Annette; Smits, Sander H. J.; Rodenburg, Richard J.; Mayatepek, Ertan; Distelmaier, Felix Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 12(2017) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A guide to diagnosis and treatment of Leigh syndrome. Issue 3 (14th June 2013) Authors: Baertling, Fabian; Rodenburg, Richard J; Schaper, Jörg; Smeitink, Jan A; Koopman, Werner J H; Mayatepek, Ertan; Morava, Eva; Distelmaier, Felix Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 3(2014) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Issue 6 (7th July 2017) Authors: Pronicka, Ewa; Ropacka‐Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito‐Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka‐... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 6(2017) Page Start: 853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bain type of X‐linked syndromic mental retardation in boys. Issue 6 (18th March 2019) Authors: Harmsen, Stefani; Buchert, Rebecca; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 734 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Issue 5 (11th April 2019) Authors: Krenn, Martin; Knaus, Alexej; Westphal, Dominik S.; Wortmann, Saskia B.; Polster, Tilman; Woermann, Friedrich G.; Karenfort, Michael; Mayatepek, Ertan; Meitinger, Thomas; Wagner, Matias; Distelmaier, Felix Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 968 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease. Issue 10 (1st September 2022) Authors: Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Göricke, Sophia L.; Lingor, Paul; Brüggemann, Norbert; Münchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack,... Journal: Movement disorders Issue: Volume 37:Issue 10(2022) Page Start: 2147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015) Authors: Huemer, Martina; Karall, Daniela; Schossig, Anna; Abdenur, Jose E.; Al Jasmi, Fatma; Biagosch, Caroline; Distelmaier, Felix; Freisinger, Peter; Graham, Brett H.; Haack, Tobias B.; Hauser, Natalie; Hertecant, Jozef; Ebrahimi‐Fakhari, Darius; Konstantopoulou, Vassiliki; Leydiker, Karen; Lourenco, C... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020) Authors: Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome. Issue 1 (17th November 2016) Authors: Luna‐Sánchez, Marta; Hidalgo‐Gutiérrez, Agustín; Hildebrandt, Tatjana M; Chaves‐Serrano, Julio; Barriocanal‐Casado, Eliana; Santos‐Fandila, Ángela; Romero, Miguel; Sayed, Ramy KA; Duarte, Juan; Prokisch, Holger; Schuelke, Markus; Distelmaier, Felix; Escames, Germaine; Acuña‐Castroviejo, Darío; Ló... Journal: EMBO molecular medicine Issue: Volume 9:Issue 1(2017) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗