Search Results - "Roende, Gitte"

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations by Ravn, Kirstine, Roende, Gitte, Duno, Morten, Fuglsang, Kathrine, Eiklid, Kristin L, Tümer, Zeynep, Nielsen, Jytte B, Skjeldal, Ola H

“…Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the…”
Get full text

Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants by Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz‐Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez‐Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Hammer, Trine Bjørg, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

“…Objective DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1‐related epilepsy has been…”
Get full text

Patients With Rett Syndrome Sustain Low-Energy Fractures by Roende, Gitte, Ravn, Kirstine, Fuglsang, Kathrine, Andersen, Henrik, Vestergaard, Aage, BrøNdum-Nielsen, Karen, Jensen, Jens-Erik Beck, Nielsen, Jytte Bieber

“…We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown…”
Get full text

DXA measurements in rett syndrome reveal small bones with low bone mass by Roende, Gitte, Ravn, Kirstine, Fuglsang, Kathrine, Andersen, Henrik, Bieber Nielsen, Jytte, Brøndum‐Nielsen, Karen, Jensen, Jens‐Erik Beck

“…Low bone mass is reported in growth‐retarded patients harboring mutations in the X‐linked methyl‐CpG‐binding protein 2 (MECP2) gene causing Rett syndrome…”
Get full text

Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis by Roende, Gitte, Petersen, Janne, Ravn, Kirstine, Fuglsang, Kathrine, Andersen, Henrik, Nielsen, Jytte B., Brøndum-Nielsen, Karen, Jensen, Jens-Erik B.

“…Background: Patients with Rett syndrome (RTT) are at risk of having low bone mass and low-energy fractures. Methods: We characterized bone metabolism by both…”
Get full text