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GesamtBMBFNIHEuropean CommissionMRCDFGWellcomeFWFNIHRHelmholtzTelethonGovernment of ItalyCIHRBBSRCGovernment of SpainBHFZonMwFondazione CariploAcademy of FinlandNHMRCESRCNSFCNWOFWOCancer Research UKSNFVAINSERMLeibniz-GemeinschaftSwedish Research CouncilNMRCUSDAHHMIAHAFNRSGenome CanadaCSOFNRRCNANRBrain Tumour Charity, UKNSFARCFRQSHSFDFFDNRFFCTA*StarVersus Arthritis, UKAction on Hearing Loss, UKParkinson's UKKNAWBrain Research, UKDoDUSEDMacArthurNSERCSSHRCDCTIAcademy of Medical Sciences, UKDiabetes UKEPSRCNational Centre for the Replacement, Refinement and Reduction of Animals in Research, UKWorldwide Cancer Research, UKMSFHRDoris Duke Charitable FoundationDHFResearch Grants Council, Hong KongMichael J Fox FoundationUK Research & InnovationParkinson's Foundation, USAAIRC Foundation for Cancer Research in ItalyLeducq Foundation, USAHFSPCZINBIA Disorders Association
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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
Mandate: Deutsche Forschungsgemeinschaft
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
Mandate: US National Institutes of Health, Bundesministerium für Bildung und Forschung
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
Mandate: US National Institutes of Health, Canadian Institutes of Health Research …
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
Mandate: Deutsche Forschungsgemeinschaft
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
Mandate: Fonds zur Förderung der wissenschaftlichen Forschung, National Institute for …
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
Mandate: Fonds zur Förderung der wissenschaftlichen Forschung, Canadian Institutes of …
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
Mandate: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung
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
Mandate: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung
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
Mandate: Fonds zur Förderung der wissenschaftlichen Forschung, Bundesministerium für …
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
Mandate: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung
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
Mandate: National Natural Science Foundation of China, European Commission …
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
Mandate: Fonds zur Förderung der wissenschaftlichen Forschung
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
Mandate: Helmholtz Association, European Commission
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
Mandate: Deutsche Forschungsgemeinschaft
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
Mandate: US National Institutes of Health, European Commission, Bundesministerium für …
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
Mandate: Fonds zur Förderung der wissenschaftlichen Forschung, Deutsche …
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
Mandate: UK Medical Research Council, Wellcome Trust
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis
LD Schlieben, H Prokisch
Handbook of Clinical Neurology 194, 141-165, 2023
Mandate: Bundesministerium für Bildung und Forschung
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
Mandate: Deutsche Forschungsgemeinschaft, European Commission, Bundesministerium für …
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
Mandate: Deutsche Forschungsgemeinschaft, Helmholtz Association
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