Publications by authors named "Endre Pal"

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The Diagnostic Potential of Urinary Titin Fragment in Neuromuscular Diseases.
Andrea Sipos, Dávid Varga, Endre Pál

Int J Mol Sci· October 2025

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Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, Tuomo Polvikoski, Manouela V Valtcheva, Endre Pal

Neurol Genet· August 2025

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Case Report: Pathogenic variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.
Sara Missaglia, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal

Front Genet· August 2025

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Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study.
Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán

Neurol Int· July 2025

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Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1.
Andrea Sipos, Milán Árvai, Dávid Varga, Brigitta Ruszin-Perecz, József Janszky

Neurol Int· July 2025

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A quick balance assessment tool for all clinical settings: validity and reliability of the Hungarian version of the activities-specific balance confidence scale.
Brigitta Ruszin-Perecz, Alexandra Makai, Miklos Pozsgai, Nora Nusser, Endre Pal

Physiother Theory Pract· June 2025

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[Case report and literature review of AIDS-related progressive multifocal leukoencephalopathy diagnosed in a psychiatric department].
Csenge Lovig, Róbert Herold, Endre Pál, Beáta Bóné, Béla Faludi

Orv Hetil· August 2024

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Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Diana Esteller, Marianela Schiava, José Verdú-Díaz, Rocío-Nur Villar-Quiles, Boris Dibowski, Johanna Palmio

J Neurol· April 2024

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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Diana Esteller, Marianela Schiava, José Verdú-Díaz, Rocío-Nur Villar-Quiles, Boris Dibowski, Johanna Palmio

J Neurol· December 2023

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Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Marianela Schiava, Chiseko Ikenaga, Ana Topf, Marta Caballero-Ávila, Tsui-Fen Chou, Endre Pal

Neurol Genet· October 2023

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Urinary titin in myotonic dystrophy type 1.
Dávid Varga, Brigitta Perecz, Krisztina Fülöp, Andrea Sipos, József Vlagyimir Janszky

Muscle Nerve· August 2023

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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet

J Neuromuscul Dis· March 2023

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[Risk factors for ischaemic stroke in myotonic dystrophy type 1].
Dávid Varga, Brigitta Perecz, Andrea Sípos, Dalma Jedlicska, Endre Pál

Orv Hetil· December 2022

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Investigation of oxidative stress in patients with multifocal motor neuropathy.
Ágnes Patzkó, Gabriella Deli, Tamás Cseh, Zsuzsanna Beleznay, Lajos Nagy

Ideggyogy Sz· November 2022

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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf

J Neurol Neurosurg Psychiatry· July 2022

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Examination of pituitary adenylate cyclase-activating polypeptide in Parkinson's disease focusing on correlations with motor symptoms.
Daniel Pham, Beata Polgar, Tunde Toth, Adel Jungling, Norbert Kovacs, Endre Pal

Geroscience· April 2022

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PET/MRI in the Presurgical Evaluation of Patients with Epilepsy: A Concordance Analysis.
Katalin Borbély, Miklós Emri, István Kenessey, Márton Tóth, Júlia Singer

Biomedicines· April 2022

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[Successful termination of ventricular arrhythmias with implantable cardioverter defibrillator in a patient with myotonic dystrophy].
Péter Kupó, Eszter Fődi, Dorottya Debreceni, Endre Pál, Réka Faludi

Orv Hetil· November 2021

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Protective Effects of PACAP in a Rat Model of Diabetic Neuropathy.
Peter Kiss, Eszter Banki, Balazs Gaszner, Daniel Nagy, Zsuzsanna Helyes, Endre Pal

Int J Mol Sci· October 2021

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The role of hybrid FDG-PET/MRI on decision-making in presurgical evaluation of drug-resistant epilepsy.
Márton Tóth, Péter Barsi, Zoltán Tóth, Katalin Borbély, János Lückl

BMC Neurol· September 2021

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Small Fiber Neuropathy: Clinicopathological Correlations.
Endre Pál, Krisztina Fülöp, Péter Tóth, Gabriella Deli, Zoltán Pfund

Behav Neurol· January 2021

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Single Residue Variation in Skeletal Muscle Myosin Enables Direct and Selective Drug Targeting for Spasticity and Muscle Stiffness.
Máté Gyimesi, Ádám I Horváth, Demeter Túrós, Sharad Kumar Suthar, Máté Pénzes

Cell· October 2020

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[Diseases with peripheral motor symptoms].
Gabriella Deli, Komáromy Hedvig, Endre Pál, Zoltán Pfund

Ideggyogy Sz· March 2020

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[Multiorgan manifestations in myotonic dystrophy type 1].
Dávid Varga, Endre Pál

Orv Hetil· September 2019

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A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Endre Pál, Judith Zima, Kinga Hadzsiev, Yoko A Ito, Taila Hartley

Eur J Med Genet· July 2019

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