Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content

por Kyriakou, Kalia, W. Lederer, Carsten, Kleanthous, Marina, Drousiotou, Anthi, Malekkou, Anna
Publicado 2020

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

por Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Publicado 2020

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

por Malekkou, Anna, Samarani, Maura, Drousiotou, Anthi, Votsi, Christina, Sonnino, Sandro, Pantzaris, Marios, Chiricozzi, Elena, Zamba-Papanicolaou, Eleni, Aureli, Massimo, Loberto, Nicoletta, Christodoulou, Kyproula
Publicado 2018

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

por Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H., Ruijter, George J.G., Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.
Publicado 2023