Publications by authors named "Maria Molnar"

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Editorial: Women with neuropsychiatric disorders: understanding & personalizing needs.
Ágota Barabássy, Zsófia Borbála Dombi, Kristina Gemzell-Danielsson, Maria Judit Molnar

Front Psychiatry· December 2025

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Antisynthetase syndrome causing progressive gait disturbance.
Orsolya Györfi, Danuta Szirmai, Gréta Benkő-Zaja, Zsolt Benkő, Mária Judit Molnár

Pract Neurol· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Maria Judits Molnar

Brain· November 2025

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Mitochondrial DNA Deletions and Plasma GDF-15 Protein Levels Are Linked to Hormonal Dysregulation and Multi-Organ Involvement in Female Reproductive Endocrine Disorders.
Vera Varhegyi, Barnabas Banfi, Domonkos Trager, Dora Gerszi, Eszter Maria Horvath, Maria Judit Molnar

Life (Basel)· November 2025

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Genetic Variants in , , , and Genes: An Exploratory Analysis Supporting the Piezo2 Channelopathy Hypothesis in Amyotrophic Lateral Sclerosis Onset.
Balázs Sonkodi, Zsófia Flóra Nagy, Anikó Keller-Pintér, Péter Klivényi, Mária Judit Molnár

Int J Mol Sci· October 2025

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Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.
Idris Janos Jimoh, Peter Balicza, Tamas Szlepak, Dora Csaban, Aniko Gal, Maria Judit Molnar

Clin Genet· August 2025

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What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review.
Katina Aleksovska, Theodoros Kyriakides, Corrado Angelini, Zohar Argov, Kristl G Claeys, Maria Julia Molnar

Eur J Neurol· June 2025

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Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy.
Krisztina Hegedűs, István Lénárt, Andrea Xue, Péter Béla Monostori, Ákos Baráth

Int J Neonatal Screen· April 2025

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Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.
Dae-Gyu Jang, Antonio Federico, Masha G Savelieff, Wolfgang Grisold, Michelangelo Mancuso, Maria J Molnar

J Neurol Sci· March 2025

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Insights into eye genetics and recent advances in ocular gene therapy.
Viktória Szabó, Balázs Varsányi, Mirella Barboni, Ágnes Takács, Krisztina Knézy

Mol Cell Probes· February 2025

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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.
Csongor Tordai, Edit Hathy, Hella Gyergyák, Katalin Vincze, Máté Baradits

Schizophr Res· November 2024

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes, Maria Judit Molnar

Orphanet J Rare Dis· November 2024

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GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS.
Vera Varhegyi, Anna Modos, Domonkos Trager, Dora Gerszi, Eszter Maria Horvath, Maria Judit Molnar

Int J Mol Sci· October 2024

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The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.
Luigi Lavorgna, Elisabetta Maida, Carola Reinhard, Patrick Cras, Kathrin Reetz, Maria Judit Molnar

Telemed J E Health· September 2024

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Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Michelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, Anna Ardissone, Marcello Bellusci, Maria Judit Molnar

Eur J Neurol· July 2024

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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.
Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor

Orphanet J Rare Dis· July 2024

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[Results of neonatal screening for spinal muscular atrophy in Hungary in 2023].
Borbála Mikos, Mária Judit Molnár, Ildikó Szatmári, Péter Monostori, Csaba Bereczki

Orv Hetil· July 2024

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GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
Tamás Szlepák, Annabel P Kossev, Dóra Csabán, Anett Illés, Szabolcs Udvari

Neurol Sci· June 2024

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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.
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Maria Judit Molnar

J Med Genet· May 2024

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

Front Psychiatry· January 2024

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

BMC Med Genomics· January 2024

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The improvement of motor symptoms in Huntington's disease during cariprazine treatment.
Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Maria Judit Molnar

Orphanet J Rare Dis· December 2023

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Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Federica Viti, Roberto De Giorgio, Isabella Ceccherini, Arti Ahluwalia, Maria M Alves, Maria Judit Molnar

Dig Dis Sci· October 2023

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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Judit Kárteszi, Alban Ziegler, Mariann Tihanyi, Beatrix Elmont, Yuebo Zhang

Am J Med Genet A· September 2023

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MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.
Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Maria Judit Molnar

EMBO Mol Med· August 2023

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