Genomic Medicine and the Institute of Rare Diseases - Publications (article, review) indexed in international databases (2019-2024)
Number of publications: 64
1.
Koehler, W;Engelen, M;Eichler, F;Lachmann, R;Fatemi, A;Sampson, J;Salsano, E;Gamez, J;Molnar, MJ;Pascual, S;Rovira, M;Vila, A;Pina, G;Martin-Ugarte, I;Mantilla, A;Pizcueta, P;Rodriguez-Pascau, L;Traver, E;Vilalta, A;Pascual, M;Martinell, M;Meya, U;Mochel, F
D1
LANCET NEUROLOGY
2023.
Semmelweis University authors: Molnár, Mária Judit, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
2.
Karaa, A;Bertini, E;Carelli, V;Cohen, BH;Enns, GM;Falk, MJ;Goldstein, A;Gorman, GS;Haas, R;Hirano, M;Klopstock, T;Koenig, MK;Kornblum, C;Lamperti, C;Lehman, A;Longo, N;Molnar, MJ;Parikh, S;Phan, H;Pitceathly, RDS;Saneto, R;Scaglia, F;Servidei, S;Tarnopolsky, M;Toscano, A;Van Hove, JLK;Vissing, J;Vockley, J;Finman, JS;Brown, DA;Shiffer, JA;Mancuso, M
D1
NEUROLOGY
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
3.
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; de, Voer Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't, Hoen Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander...
Q1
EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438
2021.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
4.
Szabó, L;Gergely, A;Jakus, R;Fogarasi, A;Grosz, Z;Molnár, MJ;Andor, I;Schulcz, O;Goschler, A;Medveczky, E;Czövek, D;Herczegfalvi, A
Q1
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2020.
Semmelweis University authors: Szabó, Léna, Fogarasi, András, Grosz, Zoltán, Molnár, Mária Judit, Andor, Ildikó, Goschler, Ádám, Czövek, Dorottya,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, II. Department of Pediatrics, I. Department of Pediatrics,
5.
Matalonga, Leslie; Hernandez-Ferrer, Carles; Piscia, Davide; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; Vissers, Lisenka E. L. M.; de, Voer Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Pico, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvo, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; , ; Balicza, P; Molnár, MJ;
Q1
EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438
2021.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
6.
Érsek, B;Silló, P;Cakir, U;Molnár, V;Bencsik, A;Mayer, B;Mezey, E;Kárpáti, S;Pós, Z;Németh, K
D1
CELLULAR AND MOLECULAR LIFE SCIENCES
2021.
Semmelweis University authors: Molnár-Érsek, Barbara, Silló, Pálma, Cakir, Ugur, Molnár, Viktor, Bencsik, András, Mayer, Balázs, Kárpáti, Sarolta, Pós, Zoltán, Németh, Krisztián,
7.
Boros, FA;Szpisjak, L;Bozó, R;Kelemen, E;Zádori, D;Salamon, A;Danis, J;Kalmar, T;Maróti, Z;Molnár, MJ;Klivényi, P;Széll, M;Adám, É
D1
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2023.
DOI:10.3390/ijms24032617 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
8.
Reinhard, C;Bachoud-Lévi, AC;Bäumer, T;Bertini, E;Brunelle, A;Buizer, AI;Federico, A;Gasser, T;Groeschel, S;Hermanns, S;Klockgether, T;Krägeloh-Mann, I;Landwehrmeyer, GB;Leber, I;Macaya, A;Mariotti, C;Meissner, WG;Molnar, MJ;Nonnekes, J;Escobar, JDO;Dueñas, BP;Linton, LR;Schöls, L;Schuele, R;Tijssen, MAJ;Vandenberghe, R;Volkmer, A;Wolf, NI;Graessner, H
Q1
FRONTIERS IN NEUROLOGY
2021.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
9.
Stengl, R;Bors, A;Agg, B;Pólos, M;Matyas, G;Molnár, MJ;Fekete, B;Csabán, D;Andrikovics, H;Merkely, B;Radovits, T;Szabolcs, Z;Benke, K
Q1
ORPHANET JOURNAL OF RARE DISEASES
2020.
Semmelweis University authors: Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Molnár, Mária Judit, Fekete, Bálint András, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla Péter, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán,
10.
Molnar, MJ;Molnar, V;Fedor, M;Csehi, R;Acsai, K;Borsos, B;Grosz, Z
Q1
FRONTIERS IN PSYCHIATRY
2022.
Semmelweis University authors: Molnár, Mária Judit, Molnár, Viktor, Fedor, Mariann, Csehi, Réka, Borsos, Beáta, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
11.
Selvatici, R;Rossi, R;Fortunato, F;Trabanelli, C;Sifi, Y;Margutti, A;Neri, M;Gualandi, F;Szabò, L;Fekete, B;Angelova, L;Litvinenko, I;Ivanov, I;Vildan, Y;Iuhas, OA;Vintan, M;Burloiu, C;Lacramioara, B;Visa, G;Epure, D;Rusu, C;Vasile, D;Sandu, M;Vlodavets, D;Mager, M;Kyriakides, T;Delin, S;Lehman, I;Fures, JS;Bojinova, V;Militaru, M;Guergueltcheva, V;Burnyte, B;Molnar, MJ;Butoianu, N;Bensemmane, SD;Makri-Mokrane, S;Herczegfalvi, A;Panzaru, M;Emandi, AC;Lusakowska, A;Potulska-Chromik, A;Kostera-Pr...
Q1
NEUROLOGY-GENETICS
2021.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, II. Department of Pediatrics,
12.
Mancuso, M;Houlden, H;Molnar, MJ;Filla, A;Breza, M;Graessner, H;Bassetti, CLA;Boesch, S
Q1
EUROPEAN JOURNAL OF NEUROLOGY
2022.
DOI:10.1111/ene.15320 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
13.
Wallace, EL;Goker-Alpan, O;Wilcox, WR;Holida, M;Bernat, J;Longo, N;Linhart, A;Hughes, DA;Hopkin, RJ;Tondel, C;Langeveld, M;Giraldo, P;Pisani, A;Germain, DP;Mehta, A;Deegan, PB;Molnar, MJ;Ortiz, D;Jovanovic, A;Muriello, M;Barshop, BA;Kimonis, V;Vujkovac, B;Nowak, A;Geberhiwot, T;Kantola, I;Knoll, J;Waldek, S;Nedd, K;Karaa, A;Brill-Almon, E;Alon, S;Chertkoff, R;Rocco, R;Sakov, A;Warnock, DG
Q1
JOURNAL OF MEDICAL GENETICS
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
14.
Csaban, D;Illes, A;Renata, TB;Balicza, P;Pentelenyi, K;Molnar, V;Gezsi, A;Grosz, Z;Gal, A;Kovacs, T;Klivenyi, P;Molnar, MJ
Q1
NEUROLOGICAL SCIENCES
2022.
Semmelweis University authors: Csabán, Dóra, Balicza, Péter, Pentelényi, Klára, Molnár, Viktor, Gézsi, András, Grosz, Zoltán, Gál, Anikó, Kovács, Tibor, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Neurology,
15.
Czipa, E;Schiller, M;Nagy, T;Kontra, L;Steiner, L;Koller, J;Pálné-Szén, O;Barta, E
D1
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
2020.
Semmelweis University authors: Koller, Júlia,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
16.
Rzepiel, A;Horváth, A;Kutszegi, N;Gézsi, A;Sági, JC;Almási, L;Egyed, B;Lorinz, P;Visnovitz, T;Kovács, GT;Szalai, C;Semsei, AF;Erdélyi, DJ
Q3
MOLECULAR AND CELLULAR PROBES
2023.
Semmelweis University authors: Rzepiel, Andrea, Kutszegi, Nóra, Gézsi, András, C. Sági, Judit, Almási, Laura, Egyed, Bálint, Visnovitz, Tamás, Kovács, Gábor, Szalai, Csaba, Semsei F, Ágnes, Erdélyi, Dániel,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Genetics, Cell- and Immunology, Genomic Medicine and the Institute of Rare Diseases, I. Department of Pathology and experimental Cancer Research, Patológiai és Kísérleti Rákkutató Intézet, Department of Pediatrics, II. Department of Pediatrics,
17.
Molnar, MJ;Jimoh, IJ;Zeke, H;Palásti, A;Fedor, M
Q1
FRONTIERS IN PHARMACOLOGY
2020.
Semmelweis University authors: Molnár, Mária Judit, Jimoh, Idris János, Zeke, Helga, Palásti, Ágnes, Fedor, Mariann,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
18.
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability
Balicza, P;Bencsik, R;Lengyel, A;Gal, A;Grosz, Z;Csaban, D;Rudas, G;Danics, K;Kovacs, GG;Molnar, MJ
Q1
NEUROLOGY-GENETICS
2020.
Semmelweis University authors: Balicza, Péter, Gál, Anikó, Grosz, Zoltán, Csabán, Dóra, Rudas, Gábor, Danics, Krisztina, Molnár, Mária Judit,
19.
Kecskeméti, N;Gáborján, A;Szonyi, M;Küstel, M;Baranyi, I;Judit, MM;Tamás, L;Gál, A;Szirmai, A
Q3
ORVOSI HETILAP
2019.
Semmelweis University authors: Kecskeméti, Nóra, Gáborján, Anita, Szőnyi, Magdolna, Küstel, Marianna, Molnár, Mária Judit, Tamás, László, Gál, Anikó, Szirmai, Ágnes,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Otorhinolaryngology, Head and Neck Surgery,
20.
Hathy, E;Szabó, E;Varga, N;Erdei, Z;Tordai, C;Czehlár, B;Baradits, M;Jezsó, B;Koller, J;Nagy, L;Molnár, MJ;Homolya, L;Nemoda, Z;Apáti, A;Réthelyi, JM
D1
STEM CELL RESEARCH & THERAPY
2020.
Semmelweis University authors: Hathy, Edit Margit, Tordai, Csongor, Baradits, Máté, Koller, Júlia, Molnár, Mária Judit, Nemoda, Zsófia, Apáti, Ágota, Réthelyi, János,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Biokémiai és Molekuláris Biológiai Intézet, Molekuláris Biológiai Tanszék, Genomic Medicine and the Institute of Rare Diseases, Pszichiátriai és Pszichoterápiás Klinika, Department of Medical Chemistry, Molecular Biology and Pathobiochemistry,
21.
Polymyositis and rhabdomyolysis caused by hepatocellular carcinoma-Case report and literature review
Bárdos, D;Molnár, MJ;Dudás, I;Tuza, S;Szijártó, A;Hahn, O
Q3
ANNALS OF MEDICINE AND SURGERY
2021.
Semmelweis University authors: Bárdos, Dávid, Molnár, Mária Judit, Dudás, Ibolyka, Tuza, Sebestyén, Szijártó, Attila, Hahn, Oszkár,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Patológiai, Igazságügyi és Biztosítási Orvostani Intézet, Orvosi Képalkotó Klinika, Sebészeti, Transzplantációs és Gasztroenterológiai Klinika, 1st. Department of Surgery and Interventional Gastroenterology, II. Department of Pathology,
22.
Carvalho, Vanessa; Colonna, Isabella; Curia, Giulia; Ferretti, Maria Teresa; Arabia, Gennarina; Molnar, Maria Judit; Lebedeva, Elena R; Moro, Elena; de Visser, Marianne; Bui, Esther; , ;
Q1
EUROPEAN JOURNAL OF NEUROLOGY 1351-5101 1468-1331
2023.
DOI:10.1111/ene.15916 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
23.
Balicza, P;Varga, NA;Bolgár, B;Pentelényi, K;Bencsik, R;Gál, A;Gézsi, A;Prekop, C;Molnár, V;Molnár, MJ
Q1
FRONTIERS IN GENETICS
2019.
Semmelweis University authors: Balicza, Péter, Varga, Noémi-Ágnes, Pentelényi, Klára, Gál, Anikó, Gézsi, András, Molnár, Viktor, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
24.
Buza , K;Peska, L;Koller, J
D1
PLOS ONE
2020.
Semmelweis University authors: Koller, Júlia,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
25.
Csehi, R;Dombi, ZB;Sebe, B;Molnár, MJ
Q1
FRONTIERS IN PSYCHIATRY
2022.
Semmelweis University authors: Csehi, Réka, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
26.
Csaban, D;Pentelenyi, K;Toth-Bencsik, R;Illes, A;Grosz, Z;Gezsi, A;Molnar, MJ
Q2
LIFE-BASEL
2021.
DOI:10.3390/life11040321 (Copy DOI)
Semmelweis University authors: Csabán, Dóra, Pentelényi, Klára, Grosz, Zoltán, Gézsi, András, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
27.
Fekete, B;Pentelényi, K;Rudas, G;Gál, A;Grosz, Z;Illés, A;Idris, J;Csukly, G;Domonkos, A;Molnar, MJ
Q3
BMC MEDICAL GENETICS
2019.
Semmelweis University authors: Fekete, Bálint András, Pentelényi, Klára, Rudas, Gábor, Gál, Anikó, Grosz, Zoltán, Jimoh, Idris János, Csukly, Gábor, Domonkos, Andor, Molnár, Mária Judit,
28.
Angelini, C;Marozzo, R;Pinzan, E;Pegoraro, V;Molnar, MJ;Torella, A;Nigro, V
Q1
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
2019.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
29.
Pozsonyi, Z;Peskó, G;Takács, H;Csuka, D;Nagy, V;Szilágyi, A;Hategan, L;Muk, B;Csányi, B;Nyolczas, N;Dézsi, L;Molnár, JM;Csillik, A;Révész, K;Iványi, B;Szabó, F;Birtalan, K;Masszi, T;Arányi, Z;Sepp, R
Q2
GENES
2021.
Semmelweis University authors: Pozsonyi, Zoltán, Peskó, Gergely, Csuka, Dorottya, Szilágyi, Ágnes, Muk, Balázs, Molnár, Mária Judit, Csillik, Anita, Révész, Katalin, Szabó, Fruzsina, Masszi, Tamás, Arányi, Zsuzsanna,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Belgyógyászati és Hematológiai Klinika, Department of Neurology,
30.
Jimoh, IJ;Sebe, B;Balicza, P;Fedor, M;Pataky, I;Rudas, G;Gal, A;Inczedy-Farkas, G;Nemeth, G;Molnar, MJ
Q1
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
2020.
Semmelweis University authors: Jimoh, Idris János, Balicza, Péter, Fedor, Mariann, Rudas, Gábor, Gál, Anikó, Inczédy-Farkas, Gabriella, Németh, György, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Orvosi Képalkotó Klinika,
31.
Illés, A;Csabán, D;Grosz, Z;Balicza, P;Gézsi, A;Molnár, V;Bencsik, R;Gál, A;Klivényi, P;Molnar, MJ
Q1
FRONTIERS IN GENETICS
2019.
Semmelweis University authors: Csabán, Dóra, Grosz, Zoltán, Balicza, Péter, Gézsi, András, Molnár, Viktor, Gál, Anikó, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
32.
Judit, MM;Judit, CS;Léna, S;Zoltán, G
Q4
ORVOSI HETILAP
2022.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, II. Department of Pediatrics,
33.
Várhegyi, V;Molnár, V;Gérsi, A;Sárközy, P;Antal, P;Mária, JM
Q4
ORVOSI HETILAP
2021.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
34.
Illés, A;Balicza, P;Gál, A;Pentelényi, K;Csabán, D;Gézsi, A;Molnár, V;Mária, JM
Q4
ORVOSI HETILAP
2020.
Semmelweis University authors: Balicza, Péter, Gál, Anikó, Pentelényi, Klára, Csabán, Dóra, Gézsi, András, Molnár, Viktor, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
35.
Molnár, MJ;Borsos, B;Várdi, VK;Grosz, Z;Sebok, A;Dézsi, L;Almássy, Z;Kerényi, L;Jobbágy, Z;Jávor, L;Bidló, J
Q4
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
2020.
DOI:10.18071/isz.73.0151 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit, Borsos, Beáta, Grosz, Zoltán, Almássy, Zsuzsanna,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
36.
Gal, Z;Gézsi, A;Molnár, V;Nagy, A;Kiss, A;Sultész, M;Csoma, Z;Tamási, L;Gálffy, G;Bálint, BL;Póliska, S;Szalai, C
Q2
FRONTIERS IN GENETICS
2020.
Semmelweis University authors: Gál, Zsófia, Gézsi, András, Molnár, Viktor, Sultész, Monika, Tamási, Lilla, Gálffy, Gabriella, Bálint, Bálint László, Szalai, Csaba,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Genetics, Cell- and Immunology, Genomic Medicine and the Institute of Rare Diseases, Department of Pulmonology,
37.
Illés, A;Balicza, P;Molnár, V;Bencsik, R;Szilvási, I;Molnar, MJ
Q1
BMC NEUROLOGY
2019.
Semmelweis University authors: Balicza, Péter, Molnár, Viktor, Szilvási, István, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
38.
Toth-Bencsik, R;Balicza, P;Varga, ET;Lengyel, A;Rudas, G;Gal, A;Molnar, MJ
Q2
FRONTIERS IN GENETICS
2021.
39.
Melicher, D;Illés, A;Littvay, L;Tárnoki, AD;Tárnoki, DL;Bikov, A;Kunos, L;Csabán, D;Buzás, EI;Molnár, MJ;Falus, A
Q2
ARCHIVES OF MEDICAL SCIENCE
2021.
Semmelweis University authors: Melicher, Dóra, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Kunos, László, Csabán, Dóra, Buzás, Edit Irén, Molnár, Mária Judit, Falus, András,
40.
Szatmari, B;Balicza, P;Nemeth, G;Molnar, MJ
Q1
CURRENT MEDICINAL CHEMISTRY
2019.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
41.
Boczán, J;Klivényi, P;Kálmán, B;Széll, M;Karcagi, V;Zádori, D;Molnár, MJ
Q4
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
2021.
DOI:10.18071/isz.74.0079 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
42.
Gal, A;Grosz, Z;Borsos, B;Szatmari, I;Sebok, A;Jávor, L;Harmath, V;Szakszon, K;Dezsi, L;Balku, E;Jobbagy, Z;Herczegfalvi, A;Almássy, Z;Kerényi, L;Molnar, MJ
Q2
LIFE-BASEL
2021.
DOI:10.3390/life11060507 (Copy DOI)
Semmelweis University authors: Gál, Anikó, Grosz, Zoltán, Borsos, Beáta, Szatmári, Ildikó, Almássy, Zsuzsanna, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, I. Department of Pediatrics, II. Department of Pediatrics,
43.
Molnár, MJ;Molnár, V;László, I;Szegedi, M;Varhegyi, V;Grosz, Z
Q4
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
2021.
DOI:10.18071/isz.74.0105 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit, Molnár, Viktor, László, Izabella, Szegedi, Márta, Várhegyi, Vera, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
44.
Szabó-Taylor, K;Molnár, MJ
Q4
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
2023.
DOI:10.18071/isz.76.0077 (Copy DOI)
Semmelweis University authors: Szabó-Taylor, Katalin, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Genetics, Cell- and Immunology, Genomic Medicine and the Institute of Rare Diseases,
45.
Molnar, V;Cs Sagi, J;Molnar, MJ
Q4
ORVOSI HETILAP
2023.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
46.
Grosz, Z;Várdi, VK;Molnár, MJ
Q4
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
2020.
DOI:10.18071/isz.73.0339 (Copy DOI)
Semmelweis University authors: Grosz, Zoltán, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
47.
Csehi, R;Molnar, V;Fedor, M;Zsumbera, V;Palasti, A;Acsai, K;Grosz, Z;Nemeth, G;Molnar, MJ
Q1
ORPHANET JOURNAL OF RARE DISEASES
2023.
Semmelweis University authors: Csehi, Réka, Molnár, Viktor, Fedor, Mariann, Palásti, Ágnes, Grosz, Zoltán, Németh, György, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
48.
Salamon, A;Nagy, ZF;Pál, M;Szabó, M;Csosz, A;Szpisjak, L;Gárdián, G;Zádori, D;Széll, M;Klivényi, P
D1
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2023.
Semmelweis University authors: Nagy, Zsófia Flóra,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
49.
Balicza, P;Gezsi, A;Fedor, M;Sagi, JC;Gal, A;Varga, NA;Molnar, MJ
Q1
FRONTIERS IN PSYCHIATRY
2023.
Semmelweis University authors: Balicza, Péter, Gézsi, András, Fedor, Mariann, C. Sági, Judit, Gál, Anikó, Varga, Noémi-Ágnes, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
50.
Molnar, MJ;Szlepak, T;Csürke, I;Loth, S;Káposzta, R;Erdos, M;Dezsofi, A
Q2
FRONTIERS IN GENETICS
2023.
Semmelweis University authors: Molnár, Mária Judit, Szlepák, Tamás, Lóth, Szendile, Erdős, Melinda, Dezsőfi-Gottl, Antal,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Dermatology, Dermatooncology and Venerology, Department of Pediatrics,
51.
Kárteszi, J;Ziegler, A;Tihanyi, M;Elmont, B;Zhang, YB;Patócs, B;Molnár, MJ;Méhes, G;Wells, K;Jakus, R;Bessenyei, B;Ranatunga, W;Morava, E
Q2
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2023.
DOI:10.1002/ajmg.a.63340 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
52.
Pizzamiglio, C;Pitceathly, RDS;Lunn, MP;Brady, S;De Marchi, F;Galan, L;Heckmann, JM;Horga, A;Molnar, MJ;Oliveira, ASB;Pinto, WBVR;Primiano, G;Santos, E;Schoser, B;Servidei, S;Souza, PVS;Venugopalan, V;Hanna, MG;Dimachkie, MM;Machado, PM
Q1
EUROPEAN JOURNAL OF NEUROLOGY
2023.
DOI:10.1111/ene.15613 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
53.
Nanetti, L;Kearney, M;Boesch, S;Stovickova, L;Ortigoza-Escobar, JD;Macaya, A;Gomez-Andres, D;Roze, E;Molnar, MJ;Wolf, NI;Darling, A;Vasco, G;Bertini, E;Indelicato, E;Neubauer, D;Haack, TB;Sagi, JC;Danti, FR;Sival, D;Zanni, G;Kolk, A;Boespflug-Tanguy, O;Schols, L;van de Warrenburg, B;Vidailhet, M;Willemsen, MA;Buizer, AI;Orzes, E;Ripp, S;Reinhard, C;Moroni, I;Mariotti, C
Q1
NEUROLOGICAL SCIENCES
2023.
Semmelweis University authors: Molnár, Mária Judit, C. Sági, Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Genetics, Cell- and Immunology, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics,
54.
Viti, F;De Giorgio, R;Ceccherini, I;Ahluwalia, A;Alves, MM;Baldo, C;Baldussi, G;Bonora, E;Borrelli, O;Dall'Oglio, L;De Coppi, P;De Filippo, C;Barbara, PD;Diamanti, A;Di Lorenzo, C;Di Maulo, R;Galeone, A;Gandullia, P;Hashmi, SK;Lacaille, F;Lancon, L;Leone, S;Mahe, MM;Molnar, MJ;Palmitelli, A;Perin, S;Prato, AP;Thapar, N;Vassalli, M;Heuckeroth, RO
Q1
DIGESTIVE DISEASES AND SCIENCES
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
55.
El-Hassar, L;Amara, A;Sanson, B;Lacatus, O;Belhouchet, AA;Kroneman, M;Claeys, K;Plançon, JP;Rodolico, C;Primiano, G;Trojsi, F;Filosto, M;Mongini, TE;Bortolani, S;Monforte, M;Carraro, E;Maggi, L;Ricci, F;Silani, V;Orsucci, D;Créange, A;Péréon, Y;Stojkovic, T;van der Beek, NAME;Toscano, A;Pareyson, D;Attarian, S;Van den Bergh, PYK;Remiche, G;Hoeijmakers, JGJ;Badrising, U;Voermans, NC;Kaindl, AM;Schara-Schmidt, U;Schoser, B;Gazzerro, E;Haberlová, J;Vohánka, S;Pál, E;Molnar, MJ;Leonardis, L;T...
Q1
JOURNAL OF NEUROMUSCULAR DISEASES
2023.
DOI:10.3233/JND-221525 (Copy DOI)
Semmelweis University authors: Pál, Endre, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
56.
Diaz-Manera, Jordi; S Kishnani, Priya; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; T van der Ploeg, Ans; I Berger, Kenneth; R Clemens, Paula; Chien, Yin-Hsiu; W Day, John; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Lindolfo Borges, Joao; Bouhour, Francoise; Chul Choi, Young; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; An Haack, Kristina; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyu...
D1
LANCET NEUROLOGY 1474-4422 1474-4465
2021.
Semmelweis University authors: Molnár, Mária Judit, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
57.
Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; der Ploeg, Ans Tvan; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, Alan; , ; Dominovic-Kovacevic, Aleksandra; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hughes, Derralynn; Stef...
D1
LANCET NEUROLOGY 1474-4422 1474-4465
2021.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
58.
Hentzen, Nina B; Ferretti, Maria Teresa; Santuccione, Antonella; Jaarsma, Joke; de Visser, Marianne; Moro, Elena; Hege Aamodt, Anne; , ; Arabia, Gennarina; Aybeck, Selma; Carvalho, Vanessa; de Visser, Marianne; Teresa Ferretti, Maria; Goudier, Riadh; Grisold, Wolfgang; Lebedeva, Elena R; Jaarsma, Joke; Matczack, Magda; Magyari, Melinda; Maria Judit, Molnar; Moro, Elena; Rakusa, Martin; Pajediene, Evelina; Tracy, Irene; Vonck, Kristl;
Q1
EUROPEAN JOURNAL OF NEUROLOGY 1351-5101 1468-1331
2022.
DOI:10.1111/ene.15439 (Copy DOI)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
59.
Oomen, Loes; Leijte, Erik; Shilhan, Darren E.; Battye, Michelle; Waltregny, David; Van, der Aa Frank; Spinoit, Anne-Françoise; Rösch, Wolfgang H.; Schmiedeke, Eberhard; Fisch, Margit; Märzheuser, Stefanie; Gosemann, Jan-Hendrik; Hubertus, Jochen; Rawashdeh, Yazan; Thorup, Jorgen; Heloury, Yves; Leva, Ernesto; Mancini, Mariangela; Bagolan, Pietro; Sacco, Emilio; Verkauskas, Gilvydas; Feitz, Wout; Sloots, Cornelius; Czauderna, Piotr; Mauricio, Maria; Holmdahl, Gundela; Abrahamsson, Kate; Thomas...
D1
EUROPEAN UROLOGY 0302-2838 1873-7560 1421-993X
2022.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
60.
Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; B Haack, Tobias; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Antonietta Mencarelli, Maria; Moutton, Sébastien; Pfundt, Rolph; Pizzi...
D1
GENETICS IN MEDICINE 1098-3600 1530-0366
2023.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
61.
Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A; Chandler, Kate E; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; , ; Varshney, Gaurav K; Banka, Siddharth; Ambrose, J C; Arumugam, P; Bevers, R; , ; Bleda, M; Boardman-Pretty, F; Boustred, C R; Brittain, H; Brown, M A; Caulfield, M J; Chan, G C; Giess, A; Griffin,...
Q1
Human Genetics and Genomics Advances 2666-2477
2023.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
62.
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Kishnani, Priya S; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R; Ladha, Shafeeq; Berger, Kenneth I; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; Chien, Yin-Hsiu; Choi, Young-Chul; Day, John W; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt...
D1
JAMA NEUROLOGY 2168-6149 2168-6157
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
63.
Tar, Ildikó; Szegedi, Márta; Krasuska-Sławińska, Ewa; Heropolitańska-Pliszka, Edyta; Bernatowska, Ewa A.; Öncü, Elif; Keles, Sevgi; Guner, Sukru N.; Reisli, Ismail; Gesheva, Nevena; Naumova, Elissaveta; Izakovicova-Holla, Lydie; Litzman, Jiri; Savchak, Igor; Kostyuchenko, Larysa; Erdős, Melinda;
Q3
CENTRAL-EUROPEAN JOURNAL OF IMMUNOLOGY 1426-3912 1644-4124
2023.
Semmelweis University authors: Szegedi, Márta, Erdős, Melinda,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
64.
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; , ; Riess, Olaf; Haack, Tobias B; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Hol...
Q1
HUMAN GENOMICS 1473-9542 1479-7364
2023.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
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