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- Denecke, Jonas
- Johannsen, Jessika 19
- Hempel, Maja 9
- Wiegand-Grefe, Silke 8
- Grolle, Benjamin 6
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41 Einträge gefunden
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Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
- Nikolaus, Marc
- Rausch, Philipp
- Rostásy, Kevin
- Bertolini, Annikki
- Wickström, Ronny
- Johannsen, Jessika
- Denecke, Jonas
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Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
- Zang, Jana
- Johannsen, Jessika
- Denecke, Jonas
- Weiss, Deike
- Koseki, Jana-Christiane
- Nießen, Almut
- Müller, Frank
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Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
2023 - Forschungsinformationssystem des UKE - frei zugänglich -
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
- Ammer, Luise Sophie
- Täuber, Karolin
- Perez, Anna
- Dohrmann, Thorsten
- Denecke, Jonas
- Santer, René
- Blümlein, Ulrike
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Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
- Weiß, Claudia
- Ziegler, Andreas
- Becker, Lena-Luise
- Johannsen, Jessika
- Brennenstuhl, Heiko
- Schreiber, Gudrun
- Flotats-Bastardas, Marina
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Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings
- Wiegand-Grefe, Silke
- Liedtke, Anna
- Morgenstern, Lydia
- Hoff, Antonia
- Csengoe-Norris, Anikó
- Johannsen, Jessika
- Denecke, Jonas
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Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
- Schwering, Christoph
- Kammler, Gertrud
- Wibbeler, Eva
- Christner, Martin
- Knobloch, Johannes K-M
- Nickel, Miriam
- Denecke, Jonas
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Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
- Bley, Annette
- Denecke, Jonas
- Kohlschütter, Alfried
- Schön, Gerhard
- Hischke, Sandra
- Guder, Philipp
- Bierhals, Tatjana
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Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!
- Fröschle, Glenn M C
- Ebenebe, Chinedu U
- Herrmann, Jochen
- Denecke, Jonas
- Singer, Dominique
- Dabek, Martin
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Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
- Ammer, Luise Sophie
- Pohl, Sandra
- Breyer, Sandra Rafaela
- Aries, Charlotte
- Denecke, Jonas
- Perez, Anna
- Petzoldt, Martin
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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
- El Ghaleb, Yousra
- Schneeberger, Pauline E
- Fernández-Quintero, Monica L
- Geisler, Stefanie M
- Pelizzari, Simone
- Polstra, Abeltje M
- van Hagen, Johanna M
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
- Knapp, Karen M
- Jenkins, Danielle E
- Sullivan, Rosie
- Harms, Frederike L
- von Elsner, Leonie
- Ockeloen, Charlotte W
- de Munnik, Sonja
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
- Kloth, Katja
- Lozic, Bernarda
- Tagoe, Julia
- Hoffer, Mariëtte J V
- Van der Ven, Amelie
- Thiele, Holger
- Altmüller, Janine
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The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
- Johannsen, Jessika
- Fuhrmann, Lena
- Grolle, Benjamin
- Morgenstern, Lydia
- Wiegand-Grefe, Silke
- Denecke, Jonas
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Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
- Boettcher, Johannes
- Filter, Bonnie
- Denecke, Jonas
- Hot, Amra
- Daubmann, Anne
- Zapf, Antonia
- Wegscheider, Karl
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