Követés
Balicza Péter
Balicza Péter
Semmelweis University, Institute of Genomic Medicine and Rare Disorders
E-mail megerősítve itt: med.semmelweis-univ.hu
Cím
Hivatkozott rá
Hivatkozott rá
Év
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
662021
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
582017
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
512018
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 Balázs, MJ Molnár, V Román, ...
Gene 595 (2), 131-141, 2016
382016
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
382016
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
212019
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
212018
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, 2018
202018
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
112020
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
112016
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
102019
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, 469071, 2019
102019
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
62023
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
62021
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
62021
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
62020
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
62016
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
62014
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
42022
Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene
A Illés, P Balicza, A Gál, K Pentelényi, D Csabán, A Gézsi, V Molnár, ...
Orvosi Hetilap 161 (20), 821-828, 2020
42020
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Cikkek 1–20