De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor R, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis N, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven A, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr J, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M
GENET MED. 2024;26(2):.

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
Hassani Nia F, Woike D, Bento I, Niebling S, Tibbe D, Schulz K, Hirnet D, Skiba M, Hönck H, Veith K, Günther C, Scholz T, Bierhals T, Driemeyer J, Bend R, Failla A, Lohr C, Alai M, Kreienkamp H
MOL PSYCHIATR. 2024;29(6):1683-1697.

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
Inhestern L, Brandt M, Driemeyer J, Denecke J, Johannsen J, Bergelt C
INT J ENV RES PUB HE. 2023;20(7):5360.

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Müller F, Schütt M, Trollmann R, Kölbel H, Schara-Schmidt U, Kirschner J, Pechmann A, Blaschek A, Horber V, Denecke J
FRONT PEDIATR. 2023;11:1259293.

Mucha-Habermann disease: a pediatric case report and proposal of a risk score
Blohm M, Ebenebe C, Rau C, Escherich C, Johannsen J, Escherich G, Driemeyer J, Nagel P, Kobbe R, Lütgehetmann M, Lennartz M, Booken N, Schneider S, Singer D
INT J DERMATOL. 2022;61(4):401-409.

Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry
Luirink I, Hutten B, Greber-Platzer S, Kolovou G, Dann E, de Ferranti S, Taylan C, Bruckert E, Saheb S, Oh J, Driemeyer J, Farnier M, Pape L, Schmitt C, Novoa F, Maeser M, Masana L, Shahrani A, Wiegman A, Groothoff J
ATHEROSCLEROSIS. 2020;299:24-31.

Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis
Taylan C, Driemeyer J, Schmitt C, Pape L, Büscher R, Galiano M, König J, Schürfeld C, Spitthöver R, Versen A, Koziolek M, Marsen T, Stein H, Schaefer J, Heibges A, Klingel R, Oh J, Weber L, Klaus G
AM J CARDIOL. 2020;136:38-48.

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
Weiss D, Kortüm F, Driemeyer J, Kloth K
MONATSSCHR KINDERH. 2020.

Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity
Klaus G, Taylan C, Büscher R, Schmitt C, Pape L, Oh J, Driemeyer J, Galiano M, König J, Schürfeld C, Spitthöver R, Schaefer J, Weber L, Heibges A, Klingel R
PEDIATR NEPHROL. 2018;33(7):1199-1208.

Letzte Aktualisierung aus dem FIS: 20.11.2024 - 23:34 Uhr