Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Silvana Markovic"'
Autor:
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
Publikováno v:
Human Genetics. Springer-Verlag
Human Genetics
Human Genetics
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f2202f9c8b9a470b51960f983f5e6
https://doi.org/10.1007/s00439-023-02552-2
https://doi.org/10.1007/s00439-023-02552-2
Autor:
Antonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, Vlasta Duranovic, Igor Prpic, Bernarda Lozic, Masa Malenica, Silvana Markovic, Lucija Lujic, Zeljka Petelin Gadze, Romana Juraski, Nina Barišic, Ivo Baric, Fran Borovecki
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1466
Genes
Volume 13
Issue 8
Genes
Volume 13
Issue 8
Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a5f6c8738873530eaa110e22c1e7cf
https://doi.org/10.3390/genes13081466
https://doi.org/10.3390/genes13081466
