Semmelweis Publications
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    • Genomic Medicine and the Institute of Rare Diseases - Publications (article, review) in SJR Q1 and Q2 jorunals (2021-2025)

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    Number of publications: 62
    1.
    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
    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
    2024.
    DOI:10.1136/jmg-2023-109445 (Copy DOI)
    2.
    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
    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.
    DOI:10.1212/WNL.0000000000207402 (Copy DOI)
    3.
    Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial
    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.
    DOI:10.1016/S1474-4422(22)00495-1 (Copy DOI)
    4.
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
    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.
    DOI:10.1038/s41431-021-00859-0 (Copy DOI)
    5.
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
    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.
    DOI:10.1038/s41431-021-00852-7 (Copy DOI)
    6.
    Melanoma-associated fibroblasts impair CD8+T cell function and modify expression of immune checkpoint regulators via increased arginase activity
    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.
    DOI:10.1007/s00018-020-03517-8 (Copy DOI)
    7.
    What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review
    Aleksovska, K;Kyriakides, T;Angelini, C;Argov, Z;Claeys, KG;de Visser, M;Filosto, M;Jovanovic, I;Kostera-Pruszczyk, A;Molnar, MJ;Sacconi, S;Schaefer, J;Siciliano, G;Vilchez, JJ;Toscano, A;Schoser, B
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2025.
    DOI:10.1111/ene.70240 (Copy DOI)
    8.
    Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
    Karaa, A;Bertini, E;Carelli, V;Cohen, B;Ennes, GM;Falk, MJ;Goldstein, A;Gorman, G;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;Abbruscato, A;Brown, DA;Sullivan, A;Shiffer, JA;Mancuso, M
    Q1
    ORPHANET JOURNAL OF RARE DISEASES
    2024.
    DOI:10.1186/s13023-024-03421-5 (Copy DOI)
    9.
    Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
    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
    2024.
    DOI:10.1007/s10072-023-07101-3 (Copy DOI)
    10.
    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment
    Molnar, MJ;Molnar, V;Fedor, M;Csehi, R;Acsai, K;Borsos, B;Grosz, Z
    Q1
    FRONTIERS IN PSYCHIATRY
    2022.
    DOI:10.3389/fpsyt.2021.825532 (Copy DOI)
    11.
    The European Reference Network for Rare Neurological Diseases
    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.
    DOI:10.3389/fneur.2020.616569 (Copy DOI)
    12.
    Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
    Jimoh, IJ;Balicza, P;Szlepak, T;Csaban, D;Gal, A;Geresi, A;Grosz, Z;Palasti, A;Boczan, J;Klivenyi, P;Molnar, MJ
    Q2
    CLINICAL GENETICS
    2025.
    DOI:10.1111/cge.14719 (Copy DOI)
    13.
    Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy
    Hegedus, K;Lénárt, I;Xue, AD;Monostori, PB;Baráth, A;Mikos, B;Udvari, S;Géresi, A;Szabó, AJ;Bereczki, C;Molnár, MJ;Szatmári, I
    Q1
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING
    2025.
    DOI:10.3390/ijns11020029 (Copy DOI)
    14.
    GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS
    Varhegyi, V;Modos, A;Trager, D;Gerszi, D;Horvath, EM;Sipos, M;Acs, N;Molnar, MJ;Varbiro, S;Gal, A
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2024.
    DOI:10.3390/ijms252010916 (Copy DOI)
    15.
    The improvement of motor symptoms in Huntington's disease during cariprazine treatment
    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.
    DOI:10.1186/s13023-023-02930-z (Copy DOI)
    16.
    Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
    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.
    DOI:10.1212/NXG.0000000000000536 (Copy DOI)
    17.
    Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy
    Konya, M;Czimbalmos, A;Loczi, L;Koi, T;Turan, C;Nagy, R;Acs, N;Hegyi, P;Varbiro, S;Gal, A
    Q1
    PLOS ONE
    2024.
    DOI:10.1371/journal.pone.0308008 (Copy DOI)
    18.
    Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
    Molnar, MJ;Szabó, L;Vladacenco, OA;Cobzaru, AM;Dor, T;Dori, A;Papadimas, G;Juríková, L;Litvinenko, I;Tournev, I;Dixon, C
    Q1
    ORPHANET JOURNAL OF RARE DISEASES
    2024.
    DOI:10.1186/s13023-024-03270-2 (Copy DOI)
    19.
    How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey
    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)
    20.
    GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights
    Szlepák, T;Kossev, AP;Csabán, D;Illés, A;Udvari, S;Balicza, P;Borsos, B;Takáts, A;Klivényi, P;Molnár, MJ
    Q1
    NEUROLOGICAL SCIENCES
    2024.
    DOI:10.1007/s10072-023-07213-w (Copy DOI)
    21.
    Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey
    Jang, DG;Federico, A;Savelieff, MG;Grisold, W;Mancuso, M;Molnar, MJ;Feldman, EL;Reynolds, EL
    Q1
    JOURNAL OF THE NEUROLOGICAL SCIENCES
    2025.
    DOI:10.1016/j.jns.2025.123395 (Copy DOI)
    22.
    Genetic landscape of early-onset dementia in Hungary
    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.
    DOI:10.1007/s10072-022-06168-8 (Copy DOI)
    23.
    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
    Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E L M; Laurie, Steven; , ; Riess, Olaf; Haack, Tobias B; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Ma...
    D1
    NPJ GENOMIC MEDICINE 2056-7944 2056-7944
    2024.
    DOI:10.1038/s41525-024-00436-6 (Copy DOI)
    24.
    Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
    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.
    DOI:10.1007/s10620-023-08066-1 (Copy DOI)
    25.
    Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features
    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.
    DOI:10.3390/genes12081152 (Copy DOI)
    26.
    Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy-A systematic review
    Carvalho, V;Colonna, I;Curia, G;Ferretti, MT;Arabia, G;Molnar, MJ;Lebedeva, ER;Moro, E;de Visser, M;Bui, E
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2023.
    DOI:10.1111/ene.15916 (Copy DOI)
    27.
    Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies
    Csehi, R;Dombi, ZB;Sebe, B;Molnár, MJ
    Q1
    FRONTIERS IN PSYCHIATRY
    2022.
    DOI:10.3389/fpsyt.2022.827744 (Copy DOI)
    28.
    Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry
    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)
    29.
    The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease
    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)
    30.
    Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene
    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)
    31.
    Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling
    Tordai, C;Hathy, E;Gyergyák, H;Vincze, K;Baradits, M;Koller, J;Póti, A;Jezsó, B;Homolya, L;Molnár, MJ;Nagy, L;Szüts, D;Apáti, A;Réthelyi, JM
    Q1
    SCHIZOPHRENIA RESEARCH
    2024.
    DOI:10.1016/j.schres.2024.01.024 (Copy DOI)
    32.
    Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications
    Balicza, P;Gezsi, A;Fedor, M;Sagi, JC;Gal, A;Varga, NA;Molnar, MJ
    Q1
    FRONTIERS IN PSYCHIATRY
    2024.
    DOI:10.3389/fpsyt.2023.1301272 (Copy DOI)
    33.
    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
    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...
    Q2
    JOURNAL OF NEUROMUSCULAR DISEASES
    2023.
    DOI:10.3233/JND-221525 (Copy DOI)
    34.
    Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
    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.
    DOI:10.3390/ijms241310745 (Copy DOI)
    35.
    Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence
    Sonkodi, B;Kovats, T;Gálik, B;Tompa, M;Urbán, P;Nagy, ZF;Acs, P;Tóth, M;Gyenesei, A
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2024.
    DOI:10.3390/ijms252111842 (Copy DOI)
    36.
    Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study
    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.
    DOI:10.5114/aoms.2019.83173 (Copy DOI)
    37.
    New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family
    Toth-Bencsik, R;Balicza, P;Varga, ET;Lengyel, A;Rudas, G;Gal, A;Molnar, MJ
    Q2
    FRONTIERS IN GENETICS
    2021.
    DOI:10.3389/fgene.2021.628904 (Copy DOI)
    38.
    Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
    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)
    39.
    Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
    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)
    40.
    The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review
    Lavorgna, L;Maida, E;Reinhard, C;Cras, P;Reetz, K;Molnar, MJ;Nonnekes, J;Medijainen, K;Summa, S;Diserens, K;Petrarca, M;Albanese, A;Leocani, L;Delussi, M;Vinciguerra, C;Pagliano, E;Kubica, J;Lallemant, P;Wenning, G;Sival, D;Srsen, KG;Bertini, ES;Lopane, G;Boesch, S;Bonavita, S;Crosiers, D;Muresanu, D;Timmann, D;Federico, A
    Q1
    TELEMEDICINE AND E-HEALTH
    2024.
    DOI:10.1089/tmj.2023.0702 (Copy DOI)
    41.
    Case report: The spectrum of SMPD1 pathogenic variants in Hungary
    Molnar, MJ;Szlepak, T;Csürke, I;Loth, S;Káposzta, R;Erdos, M;Dezsofi, A
    Q2
    FRONTIERS IN GENETICS
    2023.
    DOI:10.3389/fgene.2023.1158108 (Copy DOI)
    42.
    Antisynthetase syndrome causing progressive gait disturbance
    Györfi, O;Szirmai, D;Benko-Zaja, G;Benko, Z;Molnár, MJ;Kamondi, A
    Q2
    PRACTICAL NEUROLOGY
    2025.
    DOI:10.1136/pn-2025-004570 (Copy DOI)
    43.
    Pattern of Regulatory T Cells, Resident Memory T Cells, and Exhausted T Cells in Human Pericardial Fluid Samples of Cardiovascular Patients
    Érsek, B;Opra, J;Fekete, N;Ifju, M;Molnár, V;Bugyik, E;Pállinger, É;Székely, A;Radovits, T;Merkely, B;Buzás, EI
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2025.
    DOI:10.3390/ijms26209852 (Copy DOI)
    44.
    Genetic Variants in SDC3, KCNA2, KCNK1, KCNK16, and Heat Shock Transcription Factor-1 Genes: An Exploratory Analysis Supporting the Piezo2 Channelopathy Hypothesis in Amyotrophic Lateral Sclerosis Onset
    Sonkodi, B;Nagy, ZF;Keller-Pintér, A;Klivényi, P;Molnár, MJ;Széll, M
    D1
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    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
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    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
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    The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency
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