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Author/Creator Prokisch, Holger

11. Characterization of whole-genome autosomal differences of DNA methylation between men and women. Issue 1 (December 2015)

Authors:
Singmann, Paula; Shem-Tov, Doron; Wahl, Simone; Grallert, Harald; Fiorito, Giovanni; Shin, So-Youn; Schramm, Katharina; Wolf, Petra; Kunze, Sonja; Baran, Yael; Guarrera, Simonetta; Vineis, Paolo; Krogh, Vittorio; Panico, Salvatore; Tumino, Rosario; Kretschmer, Anja; Gieger, Christian; Peters, Ann...
Journal:
Epigenetics & chromatin
Issue:
Volume 8:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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12. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
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13. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
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14. 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
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15. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022)

Authors:
Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
403
Record Type:
Journal Article
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16. Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism. (25th September 2020)

Authors:
González-García, Pilar; Hidalgo-Gutiérrez, Agustín; Mascaraque, Cristina; Barriocanal-Casado, Eliana; Bakkali, Mohammed; Ziosi, Marcello; Abdihankyzy, Ussipbek Botagoz; Sánchez-Hernández, Sabina; Escames, Germaine; Prokisch, Holger; Martín, Francisco; Quinzii, Catarina M; López, Luis C
Journal:
Human molecular genetics
Issue:
Volume 29:Number 19(2020)
Page Start:
3296
Record Type:
Journal Article
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17. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. (19th July 2017)

Authors:
Feichtinger, René G.; Brunner-Krainz, Michaela; Alhaddad, Bader; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Stojakovic, Tatjana; Erwa, Wolfgang; Resch, Bernhard; Windischhofer, Werner; Verheyen, Sarah; Uhrig, Sabine; Windpassinger, Christian; Locker, Felix; Makowski, Christine; Strom, Tim M.; Meitin...
Other Names:
Hüttemann Maik Academic Editor.
Journal:
Oxidative medicine and cellular longevity
Issue:
Volume 2017(2017)
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Record Type:
Journal Article
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18. Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study. Issue 6 (3rd June 2021)

Authors:
Bauer, Alina; Zierer, Astrid; Gieger, Christian; Büyüközkan, Mustafa; Müller‐Nurasyid, Martina; Grallert, Harald; Meisinger, Christa; Strauch, Konstantin; Prokisch, Holger; Roden, Michael; Peters, Annette; Krumsiek, Jan; Herder, Christian; Koenig, Wolfgang; Thorand, Barbara; Huth, Cornelia
Journal:
Genetic epidemiology
Issue:
Volume 45:Issue 6(2021)
Page Start:
633
Record Type:
Journal Article
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19. 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
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20. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015)

Authors:
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 5(2015:May)
Page Start:
492
Record Type:
Journal Article
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