Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome)

بواسطة Della Marina, Adela, Leiendecker, Baerbel, Roesch, Sebastian, Wortmann, Saskia B.
الحاوية / القاعدة JIMD Rep (2020)

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

بواسطة Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike
الحاوية / القاعدة PLoS One (2017)

Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

بواسطة Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike
الحاوية / القاعدة PLoS One (2017)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

بواسطة Della Marina, Adela, Wibbeler, Eva, Abicht, Angela, Kölbel, Heike, Lochmüller, Hanns, Roos, Andreas, Schara, Ulrike
الحاوية / القاعدة Front Hum Neurosci (2020)

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

بواسطة Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma
الحاوية / القاعدة Orphanet J Rare Dis (2020)

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

بواسطة Wegener-Panzer, Andreas, Cleaveland, Robert, Wendel, Eva-Maria, Baumann, Matthias, Bertolini, Annikki, Häusler, Martin, Knierim, Ellen, Reiter-Fink, Edith, Breu, Markus, Sönmez, Özcan, Della Marina, Adela, Peters, Renate, Lechner, Christian, Piepkorn, Martin, Roll, Claudia, Höftberger, Romana, Leypoldt, Frank, Reindl, Markus, Rostásy, Kevin
الحاوية / القاعدة Neurol Neuroimmunol Neuroinflamm (2020)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

بواسطة Klepper, Joerg, Akman, Cigdem, Armeno, Marisa, Auvin, Stéphane, Cervenka, Mackenzie, Cross, Helen J., De Giorgis, Valentina, Della Marina, Adela, Engelstad, Kristin, Heussinger, Nicole, Kossoff, Eric H., Leen, Wilhelmina G., Leiendecker, Baerbel, Monani, Umrao R., Oguni, Hirokazu, Neal, Elizabeth, Pascual, Juan M., Pearson, Toni S., Pons, Roser, Scheffer, Ingrid E., Veggiotti, Pierangelo, Willemsen, Michél, Zuberi, Sameer M., De Vivo, Darryl C.
الحاوية / القاعدة Epilepsia Open (2020)

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

بواسطة Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
الحاوية / القاعدة EMBO J (2020)