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Year
Paper
2023

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy.
Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37183190/
2022

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy.
EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35916241/
2022

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy.
EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35916241/
2022

Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function

Tomislav Kokotović, Ewelina M Lenartowicz, Michiel Langeslag, Cosmin I Ciotu, Christopher W Fell, Angelica Scaramuzza, Michael J M Fischer, Michaela Kress, Josef M Penninger, Vanja Nagy.
FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35029322/
2022

Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function

Tomislav Kokotović, Ewelina M Lenartowicz, Michiel Langeslag, Cosmin I Ciotu, Christopher W Fell, Angelica Scaramuzza, Michael J M Fischer, Michaela Kress, Josef M Penninger, Vanja Nagy.
FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35029322/
2022

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability

Elham Alehabib, Tomislav Kokotović, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Samira Molaei Ramshe, Zahra Esmaeilizadeh, Hossein Darvish, Abolfazl Movafagh, Vanja Nagy.
Clin Neurol Neurosurg. 2022 Feb;213:107108. doi: 10.1016/j.clineuro.2021.107108. Epub 2021 Dec 30.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34995834/
2022

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability

Elham Alehabib, Tomislav Kokotović, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Samira Molaei Ramshe, Zahra Esmaeilizadeh, Hossein Darvish, Abolfazl Movafagh, Vanja Nagy.
Clin Neurol Neurosurg. 2022 Feb;213:107108. doi: 10.1016/j.clineuro.2021.107108. Epub 2021 Dec 30.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34995834/
Year
Paper
2021
Kokotović T, Langeslag M, Lenartowicz EM, Manion J, Fell CW, Alehabib E, Tafakhori A, Darvish H, Bellefroid EJ, Neely GG, Kress M, Penninger JM, Nagy V. PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. Front Mol Neurosci. 2021 Sep 27;14:720973. doi: 10.3389/fnmol.2021.720973. eCollection 2021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34646120/
2021
Buphamalai P, Kokotovic T, Nagy V, Menche J. Network analysis reveals rare disease signatures across multiple levels of biological organization. Nat Commun. 2021 Nov 9;12(1):6306. doi: 10.1038/s41467-021-26674-1.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34753928/
2021
Freyberger F, Kokotović T, Krnjak G, Frković SH, Nagy V. Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients. Hum Genome Var. 2021 Sep 27;8(1):37. doi: 10.1038/s41439-021-00169-3.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34580287/
2021
Fell CW, Nagy V. Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability. Trends Mol Med. 2021 Mar;27(3):220-230. doi: 10.1016/j.molmed.2020.12.003. Epub 2021 Jan 2.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33397633/
2020
Imhof S, Kokotović T, Nagy V. PRDM12: New Opportunity in Pain Research. Trends Mol Med. 2020 Oct;26(10):895-897. doi: 10.1016/j.molmed.2020.07.007. Epub 2020 Aug 20.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32828702/
2019
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P,Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A,Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF,Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. HACE1 deficiency leads to structural and functional neurodevelopmental defects. Neurol Genet. 2019 Apr29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. PubMedPMID: 31321300;
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/6561753
2019
Lee NJ, Clarke IM, Zengin A, Enriquez RF, Nagy V, Penninger JM, Baldock PA,Herzog H. RANK deletion in neuropeptide Y neurones attenuates oestrogen deficiency-related bone loss. J Neuroendocrinol. 2019 Feb;31(2):e12687. doi:10.1111/jne.12687. Epub 2019 Feb 1.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30633834