Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 74 | 2021 |
MSTO 1 is a cytoplasmic pro‐mitochondrial fusion protein A Gal, P Balicza, D Weaver, S Naghdi, SK Joseph, P Várnai, T Gyuris, ... EMBO molecular medicine 9 (7), 967-984, 2017 | 59 | 2017 |
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion NÁ Varga, K Pentelényi, P Balicza, A Gézsi, V Reményi, V Hársfalvi, ... Behavioral and Brain Functions 14, 1-14, 2018 | 53 | 2018 |
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance I Bock, K Németh, K Pentelényi, P Balicza, A Balazs, MJ Molnár, V Román, ... Gene 595 (2), 131-141, 2016 | 38 | 2016 |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary—an analysis of 58 probands P Balicza, Z Grosz, MA Gonzalez, R Bencsik, K Pentelenyi, A Gal, E Varga, ... Journal of the neurological sciences 364, 116-121, 2016 | 38 | 2016 |
NKX2-1 new mutation associated with myoclonus, dystonia, and pituitary involvement P Balicza, Z Grosz, V Molnár, A Illés, D Csabán, A Gézsi, L Dézsi, ... Frontiers in Genetics 9, 335, 2018 | 22 | 2018 |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population S Márki, A Göblös, E Szlávicz, N Török, P Balicza, B Bereznai, A Takáts, ... Parkinson’s Disease 2018 (1), 9351598, 2018 | 22 | 2018 |
Comprehensive analysis of rare variants of 101 autism-linked genes in a Hungarian cohort of autism spectrum disorder patients P Balicza, NÁ Varga, B Bolgár, K Pentelényi, R Bencsik, A Gál, A Gézsi, ... Frontiers in genetics 10, 434, 2019 | 21 | 2019 |
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability P Balicza, R Bencsik, A Lengyel, A Gal, Z Grosz, D Csaban, G Rudas, ... Neurology: Genetics 6 (5), e515, 2020 | 11 | 2020 |
The role of genetic testing in the clinical practice and research of early-onset parkinsonian disorders in a hungarian cohort: Increasing challenge in genetic counselling … A Illés, D Csabán, Z Grosz, P Balicza, A Gézsi, V Molnár, R Bencsik, A Gál, ... Frontiers in genetics 10, 1061, 2019 | 11 | 2019 |
Insufficient global health education in European neurological post‐graduate training: a European Association of Young Neurologists and Trainees survey A Sauerbier, A Macerollo, O Györfi, P Balicza, M Moarcas, V Papp, P Zis, ... European Journal of Neurology 23 (11), 1680-1683, 2016 | 11 | 2016 |
Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism–a case report A Illés, P Balicza, V Molnár, R Bencsik, I Szilvási, MJ Molnar BMC neurology 19, 1-6, 2019 | 10 | 2019 |
Solving unsolved rare neurological diseases—a Solve-RD viewpoint R Schüle, D Timmann, CE Erasmus, J Reichbauer, M Wayand, ... European Journal of Human Genetics 29 (9), 1332-1336, 2021 | 8 | 2021 |
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 7 | 2023 |
Genetic landscape of early-onset dementia in Hungary D Csaban, A Illes, TB Renata, P Balicza, K Pentelenyi, V Molnar, A Gezsi, ... Neurological Sciences 43 (9), 5289-5300, 2022 | 6 | 2022 |
New insights of phospholipase A2 associated neurodegeneration phenotype based on the long-term follow-up of a large Hungarian family R Toth-Bencsik, P Balicza, ET Varga, A Lengyel, G Rudas, A Gal, ... Frontiers in genetics 12, 628904, 2021 | 6 | 2021 |
Wernicke–Korsakoff syndrome associated with mtDNA disease IJ Jimoh, B Sebe, P Balicza, M Fedor, I Pataky, G Rudas, A Gal, ... Therapeutic advances in neurological disorders 13, 1756286420938972, 2020 | 6 | 2020 |
European junior neurologists perceive various shortcomings in current residency curricula O Györfi, M Moarcas, P Balicza, A Macerollo, W Struhal, J Sellner Acta Neurologica Scandinavica 134 (3), 232-237, 2016 | 6 | 2016 |
The E uropean A ssociation of Y oung N eurologists and T rainees in 2014: the dream of a united E uropean neurology enters the limelight O Györfi, M Moarcas, P Balicza, A Macerollo, J Sellner European Journal of Neurology 21 (7), 941-945, 2014 | 6 | 2014 |
NKX2-1 New mutation associated with myoclonus, dystonia, and pituitary involvement. Front Genet. 2018; 9: 335 P Balicza, Z Grosz, V Molnár, A Illés, D Csabán, A Gézsi | 5 | 2018 |