Search Results - "Engman, Mia Olsson"

PREPL deficiency: delineation of the phenotype and development of a functional blood assay by Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

“…PREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different…”
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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency by Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders

“…We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old…”
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Hypocretin deficiency develops during onset of human narcolepsy with cataplexy by Savvidou, Andri, Knudsen, Stine, Olsson-Engman, Mia, Gammeltoft, Steen, Jennum, Poul, Palm, Lars

“…Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC)…”
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay (S46.008) by Regal, Luc, Martensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Fita, Maria Jesus Juan, Hoogeboom, A Jeannette M, Engman, Mia Olsson, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, Francois, Inge, Ortega, David Gil, Kamsteeg, Erik-Jan, Creemers, John

“…Abstract only…”
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Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases by Davidsson, Josef, Collin, Anna, Olsson, Mia Engman, Lundgren, Johan, Soller, Maria

“…Summary Purpose To characterize a deletion of chromosome 2q at the molecular level in a patient suffering from severe epilepsy resembling severe myoclonic…”
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