De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

por Henriksen, Mari Wold, Ravn, Kirstine, Paus, Benedicte, von Tetzchner, Stephen, Skjeldal, Ola H
Publicado 2018

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

por Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Publicado 2015

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

por Ravn, Kirstine, Roende, Gitte, Duno, Morten, Fuglsang, Kathrine, Eiklid, Kristin L, Tümer, Zeynep, Nielsen, Jytte B, Skjeldal, Ola H
Publicado 2011

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

por Signorini, Cinzia, De Felice, Claudio, Leoncini, Silvia, Møller, Rikke S., Zollo, Gloria, Buoni, Sabrina, Cortelazzo, Alessio, Guerranti, Roberto, Durand, Thierry, Ciccoli, Lucia, D’Esposito, Maurizio, Ravn, Kirstine, Hayek, Joussef
Publicado 2016

Analysis of the Phenotypes in the Rett Networked Database

por Frullanti, Elisa, Papa, Filomena T., Grillo, Elisa, Clarke, Angus, Ben-Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Bienvenu, Thierry, Armstrong, Judith, Roche Martinez, Ana, Mari, Francesca, Nissenkorn, Andreea, Lo Rizzo, Caterina, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Ravn, Kirstine, Bosnjak, Vlatka Mejaski, Hayek, Joussef, Khajuria, Rajni, Montomoli, Barbara, Cogliati, Francesca, Pintaudi, Maria, Hadzsiev, Kinga, Craiu, Dana, Voinova, Victoria, Djukic, Aleksandra, Villard, Laurent, Renieri, Alessandra
Publicado 2019

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

por Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert
Publicado 2016