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| Personal data sheet |
 Print previewpersonal data approved: 2024. IV. 15. | Publications |
2023
 from data base, 2024. IV. 15. |
Elek Z., Losoncz E., Maricza K., Fülep Z., Bánlaki Z., Kovács-Nagy R., Keszler G., Rónai Z.: Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy, GENES 14: (3) 617
type of document: Journal paper/Article
number of independent citations: 1
language: English
URL |
2021
from data base, 2024. IV. 15. |
Ruesch Christina T., Wortmann Saskia B., Kovacs-Nagy Reka, Grehten Patrice, Haeberle Johannes, Latal Beatrice, Stettner Georg M.: Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder, NEUROPEDIATRICS 52: (2) pp. 126-132.
type of document: Journal paper/Article
number of independent citations: 7
language: English
URL |
2019
from data base, 2024. IV. 15. |
Zrzavy Tobias, Kovacs-Nagy Reka, Reinthaler Eva, Deutschländer Angela, Schmied Christiane, Kornek Barbara, Leutmezer Fritz, Zimprich Alexander: A rare P2RX7 variant in a Hungarian family with multiple sclerosis., MULTIPLE SCLEROSIS AND RELATED DISORDERS 27: pp. 340-341.
type of document:
number of independent citations: 2
language: English
URL |
2019
from data base, 2024. IV. 15. |
Reinson Karit, Kovacs-Nagy Reka, Õiglane-Shlik Eve, Pajusalu Sander, Nõukas Margit, Wintjes Liesbeth T, van den Brandt Frans C A, Brink Maaike, Acker Till, Ahting Uwe, Hahn Andreas, Schänzer Anne, Haack Tobias B, Rodenburg Richard J, Õunap Katrin: Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11, EUROPEAN JOURNAL OF MEDICAL GENETICS 62: (11) 103572
type of document: Journal paper/Article
number of independent citations: 20
language: English
URL |
2019
from data base, 2024. IV. 15. |
Cousin M.A., Conboy E., Wang J.-S., Lenz D., Schwab T.L., Williams M., Abraham R.S., Barnett S., El-Youssef M., Graham R.P., Gutierrez Sanchez L.H., Hasadsri L., Hoffmann G.F., Hull N.C., Kopajtich R., Kovacs-Nagy R., Li J.-Q., Marx-Berger D., McLin V., McNiven M.A., Mounajjed T., Prokisch H., Rymen D., Schulze R.J., Staufner C., Yang Y., Clark K.J., Lanpher B.C., Klee E.W.: RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities, AMERICAN JOURNAL OF HUMAN GENETICS 105: (1) pp. 108-121.
type of document: Journal paper/Article
number of independent citations: 21
language: English
URL |
2018
from data base, 2024. IV. 15. |
Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Ounap K: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency, EUROPEAN JOURNAL OF HUMAN GENETICS 26: (3) pp. 407-419.
type of document: Journal paper/Article
number of independent citations: 23
language: English
URL |
2018
from data base, 2024. IV. 15. |
Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB: HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients, NEUROPEDIATRICS 49: (6) pp. 373-378.
type of document: Journal paper/Article
number of independent citations: 9
language: English
URL |
2017
from data base, 2024. IV. 15. |
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KLM, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB: CAD mutations and uridine-responsive epileptic encephalopathy, BRAIN 140: (2) pp. 279-286.
type of document: Journal paper/Article
number of independent citations: 74
language: English
URL |
2017
from data base, 2024. IV. 15. |
Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA: Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies, OXIDATIVE MEDICINE AND CELLULAR LONGEVITY 2017: 7202589
type of document: Journal paper/Article
number of independent citations: 27
language: English
URL |
2013
from data base, 2024. IV. 15. |
Kovacs-Nagy R, Elek Z, Szekely A, Nanasi T, Sasvari-Szekely M, Ronai Z: Association of Aggression With a Novel MicroRNA Binding Site Polymorphism in the Wolframin Gene, AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 162: (4) pp. 404-412.
type of document: Journal paper/Article
number of independent citations: 16
language: English
URL |
| | Number of independent citations to these publications: | 200 |
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