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Author/Creator Prokisch, Holger

1. Molecular Characterization of the NLRC4 Expression in Relation to Interleukin-18 Levels. (October 2015)

Authors:
Zeller, Tanja; Haase, Tina; Müller, Christian; Riess, Helene; Lau, Denise; Zeller, Simon; Krause, Jasmin; Baumert, Jens; Pless, Ole; Dupuis, Josée; Wild, Philipp S.; Eleftheriadis, Medea; Waldenberger, Melanie; Zeilinger, Sonja; Ziegler, Andreas; Peters, Annette; Tiret, Laurence; Proust, Carole; ...
Journal:
Circulation
Issue:
Volume 8:Number 5(2015)
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Record Type:
Journal Article
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2. Genetic cause and prevalence of hydroxyprolinemia. Issue 5 (2nd May 2016)

Authors:
Staufner, Christian; Haack, Tobias B.; Feyh, Patrik; Gramer, Gwendolyn; Raga, Deepthi Ediga; Terrile, Caterina; Sauer, Sven; Okun, Jürgen G.; Fang‐Hoffmann, Junmin; Mayatepek, Ertan; Prokisch, Holger; Hoffmann, Georg F.; Kölker, Stefan
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
625
Record Type:
Journal Article
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4. Spectrum of combined respiratory chain defects. Issue 4 (17th March 2015)

Authors:
Mayr, Johannes A.; Haack, Tobias B.; Freisinger, Peter; Karall, Daniela; Makowski, Christine; Koch, Johannes; Feichtinger, René G.; Zimmermann, Franz A.; Rolinski, Boris; Ahting, Uwe; Meitinger, Thomas; Prokisch, Holger; Sperl, Wolfgang
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 4(2015)
Page Start:
629
Record Type:
Journal Article
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5. 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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6. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). (October 2018)

Authors:
Lenz, Dominic; McClean, Patricia; Kansu, Aydan; Bonnen, Penelope; Ranucci, Giusy; Thiel, Christian; Straub, Beate; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan; Kuloğlu, Zarife; Blakely, Emma; Taylor, Robert; Meitinger, Thoma...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1255
Record Type:
Journal Article
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7. 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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8. A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. (29th August 2016)

Authors:
Huan, Tianxiao; Joehanes, Roby; Schurmann, Claudia; Schramm, Katharina; Pilling, Luke C.; Peters, Marjolein J.; Mägi, Reedik; DeMeo, Dawn; O'Connor, George T.; Ferrucci, Luigi; Teumer, Alexander; Homuth, Georg; Biffar, Reiner; Völker, Uwe; Herder, Christian; Waldenberger, Melanie; Peters, Annette...
Journal:
Human molecular genetics
Issue:
Volume 25:Number 21(2016:Nov. 01)
Page Start:
4611
Record Type:
Journal Article
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9. Recessive mutations in >VPS13D cause childhood onset movement disorders. Issue 6 (10th April 2018)

Authors:
Gauthier, Julie; Meijer, Inge A.; Lessel, Davor; Mencacci, Niccolò E.; Krainc, Dimitri; Hempel, Maja; Tsiakas, Konstantinos; Prokisch, Holger; Rossignol, Elsa; Helm, Margaret H.; Rodan, Lance H.; Karamchandani, Jason; Carecchio, Miryam; Lubbe, Steven J.; Telegrafi, Aida; Henderson, Lindsay B.; Lo...
Journal:
Annals of neurology
Issue:
Volume 83:Issue 6(2018)
Page Start:
1089
Record Type:
Journal Article
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