Search Results - Maria Judit Molnar

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  1. 1

    Case report: The spectrum of SMPD1 pathogenic variants in Hungary by Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

    Published in Frontiers in Genetics (2023-06-01)
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  2. 2

    Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications by Peter Balicza, Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C. Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molnar, Maria Judit Molnar

    Published in Frontiers in Psychiatry (2024-01-01)
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  3. 3

    Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy” by Anikó Gál, Janine H Santos, Mária Judit Molnár, György Hajnóczky

    Published in EMBO Molecular Medicine (2023-07-01)
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  4. 4

    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations by Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll

    Published in BMC Medical Genomics (2024-01-01)
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  5. 5

    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment by Maria Judit Molnar, Viktor Molnar, Mariann Fedor, Reka Csehi, Karoly Acsai, Beata Borsos, Zoltan Grosz

    Published in Frontiers in Psychiatry (2022-02-01)
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  6. 6

    The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease by Dora Csaban, Klara Pentelenyi, Renata Toth-Bencsik, Anett Illes, Zoltan Grosz, Andras Gezsi, Maria Judit Molnar

    Published in Life (2021-04-01)
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  7. 7

    The improvement of motor symptoms in Huntington’s disease during cariprazine treatment by Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar

    Published in Orphanet Journal of Rare Diseases (2023-12-01)
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  8. 8

    Insights into eye genetics and recent advances in ocular gene therapy by Viktória Szabó, Balázs Varsányi, Mirella Barboni, Ágnes Takács, Krisztina Knézy, Mária Judit Molnár, Zoltán Zsolt Nagy, Bence György, Carlo Rivolta

    Published in Molecular and Cellular Probes (2025-02-01)
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  9. 9

    Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients by Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár

    Published in Frontiers in Genetics (2019-05-01)
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  10. 10

    Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion by Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár

    Published in Behavioral and Brain Functions (2018-02-01)
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  11. 11

    Wernicke–Korsakoff syndrome associated with mtDNA disease by Idris Janos Jimoh, Barbara Sebe, Peter Balicza, Mariann Fedor, Ilona Pataky, Gabor Rudas, Aniko Gal, Gabriella Inczedy-Farkas, Gyorgy Nemeth, Maria Judit Molnar

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  12. 12

    Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi met... by Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Amir Dori, Georgios Papadimas, Lenka Juříková, Ivan Litvinenko, Ivailo Tournev, Craig Dixon

    Published in Orphanet Journal of Rare Diseases (2024-07-01)
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  13. 13

    Positive association and future perspectives of mitochondrial DNA copy number and telomere length – a pilot twin study by Dóra Melicher, Anett Illés, Levente Littvay, Ádám Domonkos Tárnoki, Dávid László Tárnoki, András Bikov, László Kunos, Dóra Csabán, Edit Irén Buzás, Mária Judit Molnár, András Falus

    Published in Archives of Medical Science (2019-03-01)
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  14. 14

    Erratum To: MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans by Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

    Published in EMBO Molecular Medicine (2023-07-01)
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  15. 15

    The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population by Sándor Márki, Anikó Göblös, Eszter Szlávicz, Nóra Török, Péter Balicza, Benjamin Bereznai, Annamária Takáts, József Engelhardt, Péter Klivényi, László Vécsei, Mária Judit Molnár, Nikoletta Nagy, Márta Széll

    Published in Parkinson's Disease (2018-01-01)
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  16. 16

    MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein by Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

    Published in EMBO Molecular Medicine (2017-05-01)
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  17. 17

    Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy by Krisztina Hegedűs, István Lénárt, Andrea Xue, Péter Béla Monostori, Ákos Baráth, Borbála Mikos, Szabolcs Udvari, Adrienn Géresi, Attila József Szabó, Csaba Bereczki, Mária Judit Molnár, Ildikó Szatmári

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  18. 18

    Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement by Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke

    Published in Orphanet Journal of Rare Diseases (2020-10-01)
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  19. 19

    Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease by Aniko Gal, Zoltán Grosz, Beata Borsos, Ildikó Szatmari, Agnes Sebők, Laszló Jávor, Veronika Harmath, Katalin Szakszon, Livia Dezsi, Eniko Balku, Zita Jobbagy, Agnes Herczegfalvi, Zsuzsanna Almássy, Levente Kerényi, Maria Judit Molnar

    Published in Life (2021-05-01)
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  20. 20

    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-re... by Edit Hathy, Eszter Szabó, Nóra Varga, Zsuzsa Erdei, Csongor Tordai, Boróka Czehlár, Máté Baradits, Bálint Jezsó, Júlia Koller, László Nagy, Mária Judit Molnár, László Homolya, Zsófia Nemoda, Ágota Apáti, János M. Réthelyi

    Published in Stem Cell Research & Therapy (2020-11-01)
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