Search Results - "Barisić, Nina"

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations by Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns

“…ABSTRACT Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for…”
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Akutna ataksija u hitnoj pedijatrijskoj ambulanti – dijagnostički i terapijski pristup by Nina Barišić

“…Ataksija je druga po učestalosti u klinički i genetski vrlo heterogenoj skupini hiperkinetskih poremećaja pokreta. Ataksija je poremećaj kontrole koordinacije…”
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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go by Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan, Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni

“…•Newborn screening for SMA is performed today in 9 countries.•Fewer than 2% of the newborns of the whole world are currently screened for SMA.•Respondents are…”
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The visibility of the periventricular crossroads of pathways in preterm infants as a predictor of neurological outcome and occurrence of neonatal epileptic seizures by Bunoza, Branka, Nina, Barišić, Grđan Stevanović, Petra, Bogdanić, Ana, Benjak, Vesna, Grizelj, Ruža, Turudić, Daniel, Milošević, Danko, Radoš, Marko

“…To evaluate the relationship between the neurological outcome, neonatal epileptic seizures, and signal-intensity visibility of the frontal and parietal…”
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

“…The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology…”
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Vrtoglavice u djece by Čokolić Petrović, Dunja, Markov-Glavaš, Duška, Barišić, Nina

“…Vrtoglavica je subjektivni osjećaj stanja okretanja ili stanje gubitka ravnoteže u prostoru, često udruženo s mučninom, glavoboljom i povraćanjem, nesigurnošću…”
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Vaccination in pediatric acquired inflammatory immune-mediated neuromuscular disorders by Barišić, Nina, Turudić, Daniel, Marić, Lorna Stemberger, Tešović, Goran

“…To analyse literature data on vaccine related induction, worsening of the disease and disease reccurrences as well as vaccine safety and efficacy among…”
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GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature by Chudy, Darko, Raguž, Marina, Vuletić, Vladimira, Rački, Valentino, Papić, Eliša, Nenadić Baranašić, Nataša, Barišić, Nina

“…Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has…”
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

“…Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern…”
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Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1–3 patients treated with nusinersen by Šimić, Goran, Vukić, Vana, Babić, Marija, Banović, Maria, Berečić, Ivana, Španić, Ena, Zubčić, Klara, Golubić, Anja Tea, Barišić Kutija, Marija, Merkler Šorgić, Ana, Vogrinc, Željka, Lehman, Ivan, Hof, Patrick R., Sertić, Jadranka, Barišić, Nina

“…Aims Considering the substantial variability in treatment response across patients with spinal muscular atrophy (SMA), reliable markers for monitoring response…”
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke by Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, Wagner, Matias

“…RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also…”
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder by D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja

“…Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and…”
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Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study by Čeri, Andrea, Leniček Krleža, Jasna, Coen Herak, Désirée, Miloš, Marija, Pavić, Marina, Barišić, Nina, Đuranović, Vlasta, Zadro, Renata

“…To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic…”
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia by Zimoń, Magdalena, Baets, Jonathan, Almeida-Souza, Leonardo, De Vriendt, Els, Nikodinovic, Jelena, Parman, Yesim, Battaloǧlu, Esra, Matur, Zeliha, Guergueltcheva, Velina, Tournev, Ivailo, Auer-Grumbach, Michaela, De Rijk, Peter, Petersen, Britt-Sabina, Müller, Thomas, Fransen, Erik, Van Damme, Philip, Löscher, Wolfgang N, Barišić, Nina, Mitrovic, Zoran, Previtali, Stefano C, Topaloǧlu, Haluk, Bernert, Günther, Beleza-Meireles, Ana, Todorovic, Slobodanka, Savic-Pavicevic, Dusanka, Ishpekova, Boryana, Lechner, Silvia, Peeters, Kristien, Ooms, Tinne, Hahn, Angelika F, Züchner, Stephan, Timmerman, Vincent, Van Dijck, Patrick, Rasic, Vedrana Milic, Janecke, Andreas R, De Jonghe, Peter, Jordanova, Albena

“…Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome…”
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia by Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns

“…ABSTRACT Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are…”
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Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice by Blazekovic, Antonela, Gotovac Jercic, Kristina, Meglaj, Sarah, Duranovic, Vlasta, Prpic, Igor, Lozic, Bernarda, Malenica, Masa, Markovic, Silvana, Lujic, Lucija, Petelin Gadze, Zeljka, Juraski, Romana Gjergja, Barišic, Nina, Baric, Ivo, Borovecki, Fran

“…Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in…”
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Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome by Dumic, Miroslav, Barišic, Nina, Kusec, Vesna, Stingl, Katarina, Skegro, Mate, Stanimirovic, Andrija, Koehler, Katrin, Huebner, Angela

“…The triple A syndrome (Allgrove syndrome, OMIM #231550) is caused by autosomal recessively inherited mutations in the AAAS gene on chromosome 12q13 encoding…”
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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly by Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer

“…We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound…”
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Epileptički status u pedijatriji – dijagnostički i terapijski postupci by Barišić, Nina, Rubić, Filip

“…Epileptički status je najčešće neuropedijatrijsko hitno stanje u hitnim ambulantama i čini 1% od svih hitnih stanja. Cilj rada je racionalizacija…”
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Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy by Babić, Marija, Banović, Maria, Berečić, Ivana, Banić, Tea, Babić Leko, Mirjana, Ulamec, Monika, Junaković, Alisa, Kopić, Janja, Sertić, Jadranka, Barišić, Nina, Šimić, Goran

“…Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is…”
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