Author Prokisch, Holger

• 2006 | Journal Article
  ​ ​Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation​
  Hartig, M. B.; Hortnagel, K.; Garavaglia, B.; Zorzi, G.; Kmiec, T.; Klopstock, T. & Rostasy, K. et al.​ (2006) 
  Annals of Neurology, 59(2) pp. 248​-256​.​ DOI: https://doi.org/10.1002/ana.20771 
  ​Details  DOI  PMID  PMC  WoS 

• 2011 | Conference Abstract
  ​ ​mitoNET-German network for mitochondrial disorders: progress report after 2 years duration​
  Buechner, B.; Wittig, I.; Schaegger, H.; Schols, L.; Rapaport, D. ; Dimmer, K. & Prokisch, H. et al.​ (2011)
  Journal of Neurology, 258 , Lisbon, PORTUGAL.
  Heidelberg​: Springer.
  ​Details  WoS 

• 2011 | Journal Article
  ​ ​Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation​
  Hartig, M. B.; Iuso, A.; Haack, T. B.; Kmiec, T.; Jurkiewicz, E.; Heim, K. & Roeber, S. et al.​ (2011) 
  The American Journal of Human Genetics, 89(4) pp. 543​-550​.​
  ​Details  PMID  PMC  WoS 

• 2011 | Journal Article | 
  ​ ​Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1​
  Winkelmann, J.; Czamara, D.; Schormair, B.; Knauf, F.; Schulte, E. C.; Trenkwalder, C. & Dauvilliers, Y. et al.​ (2011) 
  PLoS Genetics, 7(7) art. e1002171​.​ DOI: https://doi.org/10.1371/journal.pgen.1002171 
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• 2011 | Journal Article
  ​ ​Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency​
  Danhauser, K.; Iuso, A.; Haack, T. B.; Freisinger, P.; Brockmann, K.; Mayr, J. A. & Meitinger, T. et al.​ (2011) 
  Molecular Genetics and Metabolism, 103(2) pp. 161​-166​.​ DOI: https://doi.org/10.1016/j.ymgme.2011.03.004 
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• 2012 | Journal Article
  ​ ​Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing​
  Haack, T. B.; Haberberger, B.; Frisch, E.-M.; Wieland, T.; Iuso, A.; Gorza, M. & Strecker, V. et al.​ (2012) 
  Journal of Medical Genetics, 49(4) pp. 277​-283​.​ DOI: https://doi.org/10.1136/jmedgenet-2012-100846 
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• 2013 | Journal Article | 
  ​ ​Dilution of candidates: the case of iron-related genes in restless legs syndrome​
  Oexle, K.; Schormair, B.; Ried, J. S.; Czamara, D.; Heim, K.; Frauscher, B. & Hoegl, B. et al.​ (2013) 
  European Journal of Human Genetics, 21(4) pp. 410​-414​.​ DOI: https://doi.org/10.1038/ejhg.2012.193 
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• 2014 | Journal Article | 
  ​ ​Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome​
  Schulte, E. C.; Schramm, K.; Schurmann, C.; Lichtner, P.; Herder, C.; Roden, M. & Gieger, C. et al.​ (2014) 
  PLoS ONE, 9(5) art. e98092​.​ DOI: https://doi.org/10.1371/journal.pone.0098092 
  ​Details  DOI  PMID  PMC  WoS 

• 2014 | Journal Article
  ​ ​Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration​
  Synofzik, M.; Haack, T. B.; Kopajtich, R.; Gorza, M.; Rapaport, D. ; Greiner, M. & Schoenfeld, C. et al.​ (2014) 
  The American Journal of Human Genetics, 95(6) pp. 689​-697​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.013 
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• 2014 | Journal Article
  ​ ​Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening​
  Haack, T. B.; Gorza, M.; Danhauser, K.; Mayr, J. A.; Haberberger, B.; Wieland, T. & Kremer, L. et al.​ (2014) 
  Molecular Genetics and Metabolism, 111(3) pp. 342​-352​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.12.010 
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• 2015 | Journal Article
  ​ ​Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations​
  Huemer, M.; Karall, D.; Schossig, A.; Abdenur, J. E.; Al Jasmi, F.; Biagosch, C. & Distelmaier, F. et al.​ (2015) 
  Journal of Inherited Metabolic Disease, 38(5) pp. 905​-914​.​ DOI: https://doi.org/10.1007/s10545-015-9836-6 
  ​Details  DOI  PMID  PMC  WoS 

• 2015 | Journal Article | 
  ​ ​LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population​
  Olahova, M.; Hardy, S. A.; Hall, J.; Yarham, J. W.; Haack, T. B.; Wilson, W. C. & Alston, C. L. et al.​ (2015) 
  Brain, 138 pp. 3503​-3519​.​ DOI: https://doi.org/10.1093/brain/awv291 
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• 2018 | Journal Article
  ​ ​Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency​
  Alston, C. L.; Heidler, J.; Dibley, M. G.; Kremer, L. S.; Taylor, L. S.; Fratter, C. & French, C. E. et al.​ (2018) 
  The American Journal of Human Genetics, 103(4) pp. 592​-601​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.08.013 
  ​Details  DOI 

• 2019 | Journal Article
  ​ ​Delineating MT-ATP6 -associated disease​
  Stendel, C.; Neuhofer, C.; Floride, E.; Yuqing, S.; Ganetzky, R. D.; Park, J. & Freisinger, P. et al.​ (2019) 
  Neurology Genetics, 6(1) pp. e393​.​ DOI: https://doi.org/10.1212/NXG.0000000000000393 
  ​Details  DOI 

• 2020 | Journal Article
  ​ ​Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency​
  Marten, L. M.; Brinkert, F.; Smith, D. E.; Prokisch, H.; Hempel, M. & Santer, R.​ (2020) 
  Molecular Genetics and Metabolism Reports, 25 pp. 100681​.​ DOI: https://doi.org/10.1016/j.ymgmr.2020.100681 
  ​Details  DOI 

• 2024 | Journal Article
  ​ ​Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle​
  Sonsalla, G.; Malpartida, A. B.; Riedemann, T.; Gusic, M.; Rusha, E.; Bulli, G. & Najas, S. et al.​ (2024) 
  Neuron,.​ DOI: https://doi.org/10.1016/j.neuron.2023.12.020 
  ​Details  DOI  PMID  PMC 

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