Szerző: " Pál Margit"

Nagy Zsófia Flóra; Pál Margit; Engelhardt József István; Molnár Mária Judit; Klivényi Péter; Széll Márta: Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.
BMC MEDICAL GENOMICS, 17 (1). ISSN 1755-8794 (2024)

Nagy Nikoletta; Pál Margit; Kun József; Gálik Bence; Urban Peter; Medvecz Márta; Fabos Beata; Neller Alexandra; Abdolreza Aliasgari; Danis Judit; Szabó Viktória; Yang Zhuo; Fenske Stefanie; Biel Martin; Gyenesei Attila; Ádám Éva; Széll Márta: Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 25 (2). ISSN 1661-6596 (2024)

Nagy Nikoletta; Pál Margit; Nagy Dóra; Bokor Barbara Anna; Zimmermann Aliz; Gellén Balázs; Salamon András; Sztriha László; Klivényi Péter; Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC PEDIATRICS, 24 (1). ISSN 1471-2431 (2024)

Salamon András; Nagy Zsófia Flóra; Pál Margit; Szabó Máté; Csősz Ádám; Szpisjak László; Gárdián Gabriella; Zádori Dénes; Széll Márta; Klivényi Péter: Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (13). ISSN 1661-6596 (2023)

Pál Margit; Vetró Éva; Nagy Nikoletta; Nagy Dóra; Ferdinandyné Horváth Emese; Bokor Barbara Anna; Varga Anita; Seres László; Oláh Judit Magdolna; Piffkó József; Széll Márta: Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
CURRENT ISSUES IN MOLECULAR BIOLOGY, 45 (7). pp. 5293-5304. ISSN 1467-3037 (2023)

Nagy Zsófia Flóra; Pál Margit; Salamon András; Zodanu Gloria Kafui Esi; Füstös Dalma; Klivényi Péter; Széll Márta: Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants.
NEUROBIOLOGY OF AGING: AGE-RELATED PHENOMENA NEURODEGENERATION AND NEUROPATHOLOGY, 116. pp. 1-11. ISSN 0197-4580 (2022)

Kovács Levente; Nagy Ágota; Pál Margit; Deák Péter: Usp14 is required for spermatogenesis and ubiquitin stress responses in Drosophila melanogaster.
JOURNAL OF CELL SCIENCE, 133 (2). Terjedelem: 7 p-Azonosító: jcs237511. ISSN 0021-9533 (2020)

Nagy Ágota; Kovács Levente; Lipinszki Zoltán; Pál Margit; Deák Péter: Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster.
PLOS ONE, 13 (12). ISSN 1932-6203 (2018)

Rusz Orsolya; Pál Margit; Szilágyi Éva; Rovó László; Varga Zoltán; Gyaponyi-Tomisa Bernadett; Fábián Gabriella; Kovács Levente; Nagy Olga; Mózes Petra; Reisz Zita; Tiszlavicz László; Deák Péter; Kahán Zsuzsanna: The Expression of Checkpoint and DNA Repair Genes in Head and Neck Cancer as Possible Predictive Factors.
PATHOLOGY AND ONCOLOGY RESEARCH, 2016. Terjedelem: 12 p.-Azonosító: 10.1007/s12253. ISSN 1219-4956 (2016)

Kovács Levente; Nagy Olga; Pál Margit; Udvardy Andor; Popescu Octavian; Deák Péter: Role of the Deubiquitylating Enzyme DmUsp5 in Coupling Ubiquitin Equilibrium to Development and Apoptosis in Drosophila melanogaster.
PLOS ONE, 10. Azonosító: e0120875-Terjedelem: 19 p.. ISSN 1932-6203 (2015)

Szabó Áron; Pál Margit; Deák Péter; Kiss Petra; Újfaludi Zsuzsanna; Pankotai Tibor; Lipinszki Zoltán; Udvardy Andor: Molecular characterization of the Rpt1/p48B ATPase subunit of the Drosophila melanogaster 26S proteasome.
Molecular genetics and genomics : MGG, 278 (1). pp. 17-29. ISSN 1617-4615 (2007)