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Author/Creator Prokisch, Holger

2. 106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations. (11th October 2021)

Authors:
Šikić, Katarina; Ramadža, Danijela Petković; Žigman, Tamara; Barišić, Nina; Lehman, Ivan; Mayr, Johannes A; Prokisch, Holger; Wortmann, Saskia B; Sperl, Wolfgang; Mesarić, Nikola; Rahelić, Valentina; Fumić, Ksenija; Ozretić, David; Tomasović, Maja; Barić, Ivo
Journal:
Archives of disease in childhood
Issue:
Volume 106(2021)Supplement 2
Page Start:
A45
Record Type:
Journal Article
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3. 107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients. (11th October 2021)

Authors:
Ramadža, Danijela Petković; Žigman, Tamara; Grizelj, Ruža; Ninković, Dorotea; Omerza, Lana; Aničić, Mirna Natalija; Ćorić, Marijana; Mayr, Johannes A; Feichtinger, René; Wortmann, Saskia; Prokisch, Holger; Fumić, Ksenija; Vuković, Jurica; Barić, Ivo
Journal:
Archives of disease in childhood
Issue:
Volume 106(2021)Supplement 2
Page Start:
A45
Record Type:
Journal Article
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4. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016)

Authors:
Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 9(2016)
Page Start:
634
Record Type:
Journal Article
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5. 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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6. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. (April 2022)

Authors:
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane; Zech,...
Journal:
Parkinsonism & related disorders
Issue:
Volume 97(2022)
Page Start:
52
Record Type:
Journal Article
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7. Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues. Issue 7 (12th November 2021)

Authors:
Castaneda, Andy B; Petty, Lauren E; Scholz, Markus; Jansen, Rick; Weiss, Stefan; Zhang, Xiaoling; Schramm, Katharina; Beutner, Frank; Kirsten, Holger; Schminke, Ulf; Hwang, Shih-Jen; Marzi, Carola; Dhana, Klodian; Seldenrijk, Adrie; Krohn, Knut; Homuth, Georg; Wolf, Petra; Peters, Marjolein J; Dö...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 7(2022)
Page Start:
1171
Record Type:
Journal Article
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8. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017)

Authors:
Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e175
Record Type:
Journal Article
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9. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018)

Authors:
Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 11(2018)
Page Start:
753
Record Type:
Journal Article
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10. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021)

Authors:
Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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