Detection of Paroxysms in Long-Term, Single-Channel EEG-Monitoring of Patients with Typical Absence Seizures von Kjaer, Troels W., Sorensen, Helge B. D., Groenborg, Sabine, Pedersen, Charlotte R., Duun-Henriksen, Jonas

Volltext

Mortality and causes of death in children referred to a tertiary epilepsy center von Grønborg, Sabine, Uldall, Peter

Volltext

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy von Adang, Laura Ann, Groeschel, Samuel, Grzyb, Chloe, D'Aiello, Russell, Gavazzi, Francesco, Sherbini, Omar, Bronner, Nowa, Patel, Akshilkumar, Vincent, Ariel, Sevagamoorthy, Anjana, Mutua, Sylvia, Muirhead, Kayla, Schmidt, Johanna, Pizzino, Amy, Yu, Emily, Jin, Danielle, Eichler, Florian, Fraser, Jamie L., Emrick, Lisa, Van Haren, Keith, Boulanger, Jean-Martin, Ruzhnikov, Maura, Sylvain, Michel, Nguyen, Cam-Tu Émilie, Potic, Ana, Keller, Stephanie, Fatemi, Ali, Uebergang, Eloise, Poe, Michele, Yazdani, Pouneh Amir, Bernat, John, Lindstrom, Kristen, Bonkowsky, Joshua L., Bernard, Genevieve, Stutterd, Chloe A., Orchard, Paul, Gupta, Ashish O., Ljungberg, Merete, Groenborg, Sabine, Zambon, Alberto, Locatelli, Sara, Fumagalli, Francesca, Elguen, Saskia, Kehrer, Christiane, Krägeloh-Mann, Ingeborg, Shults, Justine, Vanderver, Adeline, Escolar, Maria L.

Volltext

Monozygotic twins with a de novo 0.32Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation von Gronborg, Sabine, Kjaergaard, Susanne, Hove, Hanne, Larsen, Vibeke André, Kirchhoff, Maria

Volltext

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency von VAN SCHERPENZEEL, Monique, TIMAL, Sharita, GRØNBORG, Sabine, RUIJTER, George, KATTENTIDT-MOURAVIEVA, Anna, MORITZ BRUM, Jaime, FRECKMANN, Mary-Louise, TOMKINS, Susan, JALAN, Anil, PROCHAZKOVA, Dagmar, ONDRUSKOVA, Nina, HANSIKOVA, Hana, RYMEN, Daisy, WILLEMSEN, Michel A, HENSBERGEN, Paul J, MATTHIJS, Gert, WEVERS, Ron A, VELTMAN, Joris A, MORAVA, Eva, LEFEBER, Dirk J, HOISCHEN, Alexander, WUHRER, Manfred, HIPGRAVE-EDERVEEN, Agnes, GRUNEWALD, Stephanie, PEANNE, Romain, SAADA, Ann, EDVARDSON, Shimon

Volltext

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma von Grønborg, Sabine, Krätzner, Ralph, Spiegler, Juliane, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R., Gärtner, Jutta

Volltext