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- Johannsen, Jessika
- Denecke, Jonas 19
- Hempel, Maja 10
- Bierhals, Tatjana 7
- Grolle, Benjamin 6
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34 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 -
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
- Holling, Tess
- Lisfeld, Jasmin
- Johannsen, Jessika
- Matschke, Jakob
- Song, Feizhi
- Altmeppen, Hermann Clemens
- Kutsche, Kerstin
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Mucha-Habermann disease: a pediatric case report and proposal of a risk score
- Blohm, Martin Ernst
- Ebenebe, Chinedu Ulrich
- Rau, Cornelius
- Escherich, Carolin
- Johannsen, Jessika
- Escherich, Gabriele
- Driemeyer, Joenna
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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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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
- Saffari, Afshin
- Cannet, Claire
- Blaschek, Astrid
- Hahn, Andreas
- Hoffmann, Georg F
- Johannsen, Jessika
- Kirsten, Romy
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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 -
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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
- van der Ven, Amelie T
- Johannsen, Jessika
- Kortüm, Fanny
- Wagner, Matias
- Tsiakas, Konstantinos
- Bierhals, Tatjana
- Lessel, Davor
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Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
- Schob, Claudia
- Hempel, Maja
- Brozkova, Dana Safka
- Jiang, Huafang
- Kim, Soo Yeon
- Batzir, Nurit Assia
- Orenstein, Naama
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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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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Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101:Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM), Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101:Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V
- Ziegler, Andreas
- Wilichowski, Ekkehard
- Schara, Ulrike
- Hahn, Andreas
- Müller-Felber, Wolfgang
- Johannsen, Jessika
- von der Hagen, Maja
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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K
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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
- Johannsen, Jessika
- Bierhals, Tatjana
- Deindl, Philipp
- Hecher, Laura
- Hermann, Katharina
- Hempel, Maja
- Kloth, Katja