Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Nakamura, Kazuyuki, Kato, Mitsuhiro, Osaka, Hitoshi, Yamashita, Sumimasa, Nakagawa, Eiji, Haginoya, Kazuhiro, Tohyama, Jun, Okuda, Mitsuko, Wada, Takahito, Shimakawa, Shuichi, Imai, Katsumi, Takeshita, Saoko, Ishiwata, Hisako, Lev, Dorit, Lerman-Sagie, Tally, Cervantes-Barragán, David E, Villarroel, Camilo E, Ohfu, Masaharu, Writzl, Karin, Gnidovec Strazisar, Barbara, Hirabayashi, Shinichi, Chitayat, David, Myles Reid, Diane, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Neurology (10.09.2013)
Published in Neurology (10.09.2013)
Get more information
Journal Article
The Assembly of National Sleep Societies (ANSS‐ESRS) moves “Beyond Boundaries”: A project announcement
Khachatryan, Samson G., Korostovtseva, Lyudmila, Deleanu, Oana, Gnidovec‐Stražišar, Barbara, Young, Peter, Engstrøm, Morten, Werf, Ysbrand D.
Published in Journal of sleep research (01.08.2022)
Published in Journal of sleep research (01.08.2022)
Get full text
Journal Article
The history and role of the Assembly of National Sleep Societies (ANSS) within the European Sleep Research Society (ESRS)
Werf, Ysbrand D., Korostovtseva, Lyudmila, Khachatryan, Samson G., Deleanu, Oana C., Young, Peter, Gnidovec‐Stražišar, Barbara, Engstrøm, Morten, Arnardottir, Erna S., Verbraecken, Johan, Pevernagie, Dirk
Published in Journal of sleep research (01.08.2022)
Published in Journal of sleep research (01.08.2022)
Get full text
Journal Article
Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping
Lovrečić, Luca, Rajar, Polona, Volk, Marija, Bertok, Sara, Gnidovec Stražišar, Barbara, Osredkar, Damjan, Jekovec Vrhovšek, Maja, Peterlin, Borut
Published in Journal of applied genetics (01.05.2018)
Published in Journal of applied genetics (01.05.2018)
Get full text
Journal Article
On the rise and fall of the apnea−hypopnea index: A historical review and critical appraisal
Pevernagie, Dirk A., Gnidovec‐Strazisar, Barbara, Grote, Ludger, Heinzer, Raphael, McNicholas, Walter T., Penzel, Thomas, Randerath, Winfried, Schiza, Sophia, Verbraecken, Johan, Arnardottir, Erna S.
Published in Journal of sleep research (01.08.2020)
Published in Journal of sleep research (01.08.2020)
Get full text
Journal Article
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J, Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, Jr, J Lloyd, Lesca, Gaetan, Mancardi, Maria M, Poulat, Anne L, Repetto, Gabriela M, Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E, Bosch, Friedrich, Brockmann, Knut, Cross, J Helen, Doummar, Diane, Félix, Temis M, Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M, Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T, Peluso, Silvio, Mey, Antje, Rice, Gregory M, Rosenfeld, Jill A, Taylor, Jenny C, Troester, Matthew M, Stanley, Christine M, Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R, Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F, Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B, Oliver, Karen L, Berkovic, Samuel F, Scheffer, Ingrid E, de Falco, Fabrizio A, Oliver, Peter L, Striano, Pasquale, Zara, Federico, Campeau, Phillipe M, Sisodiya, S M
Published in Neurology (05.07.2016)
Published in Neurology (05.07.2016)
Get more information
Journal Article
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation
Writzl, Karin, Primec, Zvonka Rener, Stražišar, Barbara Gnidovec, Osredkar, Damjan, Pečarič-Meglič, Nuška, Kranjc, Branka Stirn, Nishiyama, Kiyomi, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.06.2012)
Published in Epilepsia (Copenhagen) (01.06.2012)
Get full text
Journal Article
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Trang, Ha, Samuels, Martin, Ceccherini, Isabella, Frerick, Matthias, Garcia-Teresa, Maria Angeles, Peters, Jochen, Schoeber, Johannes, Migdal, Marek, Markstrom, Agneta, Ottonello, Giancarlo, Piumelli, Raffaele, Estevao, Maria Helena, Senecic-Cala, Irena, Gnidovec-Strazisar, Barbara, Pfleger, Andreas, Porto-Abal, Raquel, Katz-Salamon, Miriam
Published in Orphanet journal of rare diseases (21.09.2020)
Published in Orphanet journal of rare diseases (21.09.2020)
Get full text
Journal Article
Menkes kinky hair disease (Menkes syndrome). A case report
Fister, Petja, Rakus, Jona, Primec, Zvonka Rener, Strazisar, Barbara Gnidovec
Published in Acta dermatovenerologica Alpina, Panonica, et Adriatica (01.09.2006)
Get full text
Published in Acta dermatovenerologica Alpina, Panonica, et Adriatica (01.09.2006)
Journal Article
Cardiorespiratory parameters in newborns during sedation with chloral hydrate
Fister, Petja, Pecek, Jerneja, Strazisar, Barbara Gnidovec, Paro-Panjan, Darja
Published in Turkish journal of pediatrics (01.01.2020)
Published in Turkish journal of pediatrics (01.01.2020)
Get full text
Journal Article
Melatonin use in managing insomnia in children with autism and other neurogenetic disorders - An assessment by the international pediatric sleep association (IPSA)
Kotagal, Suresh, Malow, Beth, Spruyt, Karen, Wang, Guanghai, Bolaños Almeida, Carlos Ernest, Tavera Saldaña, Lina Marcela, Blunden, Sarah, Narang, Indra, Ipsiroglu, Osman S., Bruni, Oliviero, Strazisar, Barbara Gnidovec, Simakajornboon, Narong, Nunes, Magda Lahorgue, Cortese, Samuele
Published in Sleep medicine (01.07.2024)
Published in Sleep medicine (01.07.2024)
Get full text
Journal Article