Articles with public access mandates - Prokisch HLearn more
Not available anywhere: 26
Review
Proteome analysis of mitochondrial outer membrane from Neurospora crassa
S Schmitt, H Prokisch, T Schlunck, DG Camp, U Ahting, T Waizenegger, ...
Proteomics 6 (1), 72-80, 2006
Mandates: German Research Foundation
Review
Detection of aberrant gene expression events in RNA sequencing data
VA Yépez, C Mertes, MF Müller, D Klaproth-Andrade, L Wachutka, ...
Nature protocols 16 (2), 1276-1296, 2021
Mandates: US National Institutes of Health, Federal Ministry of Education and Research …
Review
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function
JS Hawe, R Wilson, KT Schmid, L Zhou, LN Lakshmanan, BC Lehne, ...
Nature genetics 54 (1), 18-29, 2022
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Review
Risk gene variants for nicotine dependence in the CHRNA5–CHRNA3–CHRNB4 cluster are associated with cognitive performance
G Winterer, K Mittelstrass, I Giegling, C Lamina, C Fehr, H Brenner, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
Mandates: German Research Foundation
Review
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations
S Banka, C de Goede, WW Yue, AAM Morris, B Von Bremen, ...
Molecular genetics and metabolism 113 (4), 301-306, 2014
Mandates: Austrian Science Fund, National Institute for Health Research, UK, Wellcome …
Review
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
MP Milev, C Graziano, D Karall, WFE Kuper, N Al-Deri, DM Cordelli, ...
Journal of Medical Genetics 55 (11), 753-764, 2018
Mandates: Austrian Science Fund, Canadian Institutes of Health Research, Natural …
Review
Neonatal encephalocardiomyopathy caused by mutations in VARS2
F Baertling, B Alhaddad, A Seibt, S Budaeus, T Meitinger, TM Strom, ...
Metabolic Brain Disease 32 (1), 267-270, 2017
Mandates: German Research Foundation, Federal Ministry of Education and Research, Germany
Review
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: insights into enzyme interactions and identification of potential therapeutics
D Herebian, A Seibt, SHJ Smits, G Bünning, C Freyer, H Prokisch, ...
Molecular genetics and metabolism 121 (3), 216-223, 2017
Mandates: German Research Foundation, Federal Ministry of Education and Research, Germany
Review
LYRM7-associated complex III deficiency: a clinical, molecular genetic, MR tomographic, and biochemical study
M Hempel, LS Kremer, K Tsiakas, B Alhaddad, TB Haack, U Löbel, ...
Mitochondrion 37, 55-61, 2017
Mandates: Austrian Science Fund, Federal Ministry of Education and Research, Germany
Review
The many faces of paediatric mitochondrial disease on neuroimaging
F Baertling, D Klee, TB Haack, H Prokisch, T Meitinger, E Mayatepek, ...
Child's Nervous System 32 (11), 2077-2083, 2016
Mandates: German Research Foundation, Federal Ministry of Education and Research, Germany
Review
Leigh syndrome: a study of 209 patients at the Beijing Children's hospital
SL Stenton, Y Zou, H Cheng, Z Liu, J Wang, D Shen, H Jin, C Ding, ...
Annals of neurology 91 (4), 466-482, 2022
Mandates: National Natural Science Foundation of China, European Commission, Federal …
Review
HTRA2 defect: a recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy …
R Kovacs-Nagy, G Morin, M Al Nouri, O Brandau, NW Saadi, MA Nouri, ...
Neuropediatrics 49 (06), 373-378, 2018
Mandates: Austrian Science Fund
Review
The clinical application of RNA sequencing in genetic diagnosis of Mendelian disorders
SL Stenton, H Prokisch
Clinics in Laboratory Medicine 40 (2), 121-133, 2020
Mandates: Helmholtz Association, European Commission
Review
A common atopy‐associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD 3 and SP 1 binding
A Kretschmer, G Möller, H Lee, H Laumen, C Von Toerne, K Schramm, ...
Allergy 69 (5), 632-642, 2014
Mandates: German Research Foundation
Review
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
S Illsinger, GC Korenke, S Boesch, M Nocker, D Karall, JM Nuoffer, ...
European journal of medical genetics 63 (11), 104046, 2020
Mandates: US National Institutes of Health, European Commission, Federal Ministry of …
Review
PRUNE1 deficiency: expanding the clinical and genetic spectrum
B Alhaddad, A Schossig, TB Haack, R Kovács-Nagy, MC Braunisch, ...
Neuropediatrics 49 (05), 330-338, 2018
Mandates: Austrian Science Fund, German Research Foundation, Federal Ministry of …
Review
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency
H Jiang, A Alahmad, S Fu, X Fu, Z Liu, X Han, L Li, T Song, M Xu, S Liu, ...
Journal of Inherited Metabolic Disease 45 (2), 264-277, 2022
Mandates: UK Medical Research Council, Wellcome Trust
Review
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis
LD Schlieben, H Prokisch
Handbook of Clinical Neurology 194, 141-165, 2023
Mandates: Federal Ministry of Education and Research, Germany
Review
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
G Straccia, C Reale, M Castellani, I Colangelo, E Orunesu, S Meoni, ...
Parkinsonism & related disorders 104, 3-6, 2022
Mandates: German Research Foundation, European Commission, Federal Ministry of …
Review
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
B Garavaglia, S Vallian, LM Romito, G Straccia, M Capecci, F Invernizzi, ...
Parkinsonism & Related Disorders 97, 52-56, 2022
Mandates: German Research Foundation, Helmholtz Association
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