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Author/Creator Prokisch, Holger

41. Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation. Issue 2 (19th November 2012)

Authors:
Schulte, Eva C.; Claussen, Malte C.; Jochim, Angela; Haack, Tobias; Hartig, Monika; Hempel, Maja; Prokisch, Holger; Haun‐Jünger, Ursula; Winkelmann, Juliane; Hemmer, Bernhard; Förschler, Annette; Ilg, Rüdiger
Journal:
Movement disorders
Issue:
Volume 28:Issue 2(2013)
Page Start:
224
Record Type:
Journal Article
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43. Molecular and clinical spectra of FBXL4 deficiency. Issue 12 (6th October 2017)

Authors:
El‐Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al‐Owain, Mohammed;...
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1649
Record Type:
Journal Article
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44. 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)
Page Start:
Record Type:
Journal Article
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45. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012)

Authors:
Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 4(2012)
Page Start:
277
Record Type:
Journal Article
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46. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020)

Authors:
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,...
Journal:
Lancet neurology
Issue:
Volume 19:Issue 11(2020)
Page Start:
908
Record Type:
Journal Article
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47. MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention. (30th December 2014)

Authors:
Tischner, Christin; Hofer, Annette; Wulff, Veronika; Stepek, Joanna; Dumitru, Iulia; Becker, Lore; Haack, Tobias; Kremer, Laura; Datta, Alexandre N.; Sperl, Wolfgang; Floss, Thomas; Wurst, Wolfgang; Chrzanowska-Lightowlers, Zofia; De Angelis, Martin Hrabe; Klopstock, Thomas; Prokisch, Holger; Wen...
Journal:
Human molecular genetics
Issue:
Volume 24:Number 8(2015:Apr. 15)
Page Start:
2247
Record Type:
Journal Article
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48. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013)

Authors:
Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1501
Record Type:
Journal Article
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49. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013)

Authors:
Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1501
Record Type:
Journal Article
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50. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Issue 2 (26th December 2011)

Authors:
Haack, Tobias B; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A; Ahting, Uwe; Tiranti, Valeria; Rötig, Agnes; Iuso, Arcangela; Horvath, Rita; T...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
83
Record Type:
Journal Article
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