Semmelweis Publications
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    • Genomic Medicine and the Institute of Rare Diseases - Publications (article, review) in SJR Q1 and Q2 jorunals (2020-2024)

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    Number of publications: 60
    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.
    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)
    3.
    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)
    4.
    Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group
    Mancuso, M;Papadopoulou, MT;Ng, YS;Ardissone, A;Bellusci, M;Bertini, E;Di Vito, L;Evangelista, T;Fons, C;Hikmat, O;Horvath, R;Klopstock, T;Kornblum, C;Lamperti, C;Licchetta, L;Molnar, MJ;Varhaug, KN;O'Callaghan, M;Pressler, RM;Schiff, M;Servidei, S;Szabo, N;Gorman, GS;Cross, JH;Rahman, S
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2024.
    DOI:10.1111/ene.16275 (Copy DOI)
    5.
    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)
    6.
    Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients
    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.
    DOI:10.1016/j.ejpn.2020.05.002 (Copy DOI)
    7.
    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)
    8.
    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)
    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.
    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
    Nagy, ZF;Pál, M;Engelhardt, JI;Molnár, MJ;Klivényi, P;Széll, M
    Q2
    BMC MEDICAL GENOMICS
    2024.
    DOI:10.1186/s12920-024-01807-9 (Copy DOI)
    12.
    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)
    13.
    Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
    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.
    DOI:10.1186/s13023-020-01569-4 (Copy DOI)
    14.
    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)
    15.
    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)
    16.
    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)
    17.
    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)
    18.
    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)
    19.
    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)
    20.
    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
    2023.
    DOI:10.3389/fpsyt.2023.1301272 (Copy DOI)
    21.
    ChIPSummitDB: a ChIP-seq-based database of human transcription factor binding sites and the topological arrangements of the proteins bound to them
    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.
    DOI:10.1093/database/baz141 (Copy DOI)
    Semmelweis University authors: Koller, Júlia,
    Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
    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.
    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)
    24.
    Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine
    Molnar, MJ;Jimoh, IJ;Zeke, H;Palásti, A;Fedor, M
    Q1
    FRONTIERS IN PHARMACOLOGY
    2020.
    DOI:10.3389/fphar.2020.00477 (Copy DOI)
    25.
    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)
    26.
    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.
    DOI:10.1212/NXG.0000000000000515 (Copy DOI)
    27.
    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)
    28.
    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)
    29.
    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)
    30.
    Modified linear regression predicts drug-target interactions accurately
    Buza , K;Peska, L;Koller, J
    D1
    PLOS ONE
    2020.
    DOI:10.1371/journal.pone.0230726 (Copy DOI)
    Semmelweis University authors: Koller, Júlia,
    Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
    31.
    Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes
    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.
    DOI:10.1186/s13287-020-01980-5 (Copy DOI)
    32.
    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)
    33.
    Wernicke-Korsakoff syndrome associated with mtDNA disease
    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.
    DOI:10.1177/1756286420938972 (Copy DOI)
    34.
    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)
    35.
    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)
    36.
    Investigation of the Possible Role of Tie2 Pathway and TEK Gene in Asthma and Allergic Conjunctivitis
    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.
    DOI:10.3389/fgene.2020.00128 (Copy DOI)
    37.
    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)
    38.
    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)
    39.
    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)
    40.
    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)
    41.
    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)
    42.
    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)
    43.
    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)
    44.
    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)
    45.
    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)
    46.
    Severe steroid-related neuropsychiatric symptoms during paediatric acute lymphoblastic leukaemia therapy-An observational Ponte di Legno Toxicity Working Group Study
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    The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review
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    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
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    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
    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...
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    LANCET NEUROLOGY 1474-4422 1474-4465
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    Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
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    Mapping of European activities on the integration of sex and gender factors in neurology and neuroscience.
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    Rare and Complex Urology: Clinical Overview of ERN eUROGEN
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    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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    GENETICS IN MEDICINE 1098-3600 1530-0366
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    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
    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,...
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    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...
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    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
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    HUMAN GENOMICS 1473-9542 1479-7364
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    An interconnected data infrastructure to support large-scale rare disease research.
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    GIGASCIENCE 2047-217X 2047-217X
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    Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
    Kishnani, Priya S; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Dimachkie, Mazen M; Kushlaf, Hani; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; Hummel, Noemi; Kopiec, Agnieszka; Holdbrook, Fred; Shohet, Simon; Toscano, Antonio; 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; Stefanescu, Ela; Salort-Campana...
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    JOURNAL OF PATIENT-REPORTED OUTCOMES 2509-8020
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    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease : a phase III open-label extension study (ATB200-07)
    Schoser, Benedikt; Kishnani, Priya S; Bratkovic, Drago; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; , ; Sebok, Agnes; Pestronk, Alan; Dominovic-Kovacevic, Aleksandra; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hu...
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    JOURNAL OF NEUROLOGY 0340-5354 1432-1459
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