29 Einträge gefunden

1. Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

   1. Inhestern, Laura
   2. Brandt, Maja
   3. Driemeyer, Joenna
   4. Denecke, Jonas
   5. Johannsen, Jessika
   6. Bergelt, Corinna

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

   1. Zang, Jana
   2. Johannsen, Jessika
   3. Denecke, Jonas
   4. Weiss, Deike
   5. Koseki, Jana-Christiane
   6. Nießen, Almut
   7. Müller, Frank

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
3. Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

   1. Nikolaus, Marc
   2. Rausch, Philipp
   3. Rostásy, Kevin
   4. Bertolini, Annikki
   5. Wickström, Ronny
   6. Johannsen, Jessika
   7. Denecke, Jonas

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
4. 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

   1. Weiß, Claudia
   2. Ziegler, Andreas
   3. Becker, Lena-Luise
   4. Johannsen, Jessika
   5. Brennenstuhl, Heiko
   6. Schreiber, Gudrun
   7. Flotats-Bastardas, Marina

   2022 - Forschungsinformationssystem des UKE
5. 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

   1. Wiegand-Grefe, Silke
   2. Liedtke, Anna
   3. Morgenstern, Lydia
   4. Hoff, Antonia
   5. Csengoe-Norris, Anikó
   6. Johannsen, Jessika
   7. Denecke, Jonas

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
6. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

   1. Holling, Tess
   2. Lisfeld, Jasmin
   3. Johannsen, Jessika
   4. Matschke, Jakob
   5. Song, Feizhi
   6. Altmeppen, Hermann Clemens
   7. Kutsche, Kerstin

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
7. Mucha-Habermann disease: a pediatric case report and proposal of a risk score

   1. Blohm, Martin Ernst
   2. Ebenebe, Chinedu Ulrich
   3. Rau, Cornelius
   4. Escherich, Carolin
   5. Johannsen, Jessika
   6. Escherich, Gabriele
   7. Driemeyer, Joenna

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
8. Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

   1. Johannsen, Jessika
   2. Weiss, Deike
   3. Schlenker, Friderike
   4. Groth, Michael
   5. Denecke, Jonas

   2021 - Forschungsinformationssystem des UKE
9. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

   1. Schob, Claudia
   2. Hempel, Maja
   3. Brozkova, Dana Safka
   4. Jiang, Huafang
   5. Kim, Soo Yeon
   6. Batzir, Nurit Assia
   7. Orenstein, Naama

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
10. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

    1. Saffari, Afshin
    2. Cannet, Claire
    3. Blaschek, Astrid
    4. Hahn, Andreas
    5. Hoffmann, Georg F
    6. Johannsen, Jessika
    7. Kirsten, Romy

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
11. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    1. van der Ven, Amelie T
    2. Johannsen, Jessika
    3. Kortüm, Fanny
    4. Wagner, Matias
    5. Tsiakas, Konstantinos
    6. Bierhals, Tatjana
    7. Lessel, Davor

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
12. Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

    1. Johannsen, Jessika
    2. Weiss, Deike
    3. Daubmann, Anne
    4. Schmitz, Leonie
    5. Denecke, Jonas

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
13. 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

    1. Coste de Bagneaux, Pierre
    2. von Elsner, Leonie
    3. Bierhals, Tatjana
    4. Campiglio, Marta
    5. Johannsen, Jessika
    6. Obermair, Gerald J
    7. Hempel, Maja

    2020 - Forschungsinformationssystem des UKE
14. Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1

    1. Pechmann, Astrid
    2. Baumann, Matthias
    3. Bernert, Günther
    4. Flotats-Bastardas, Marina
    5. Gruber-Sedlmayr, Ursula
    6. von der Hagen, Maja
    7. Hasselmann, Oswald

    2020 - Forschungsinformationssystem des UKE
15. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

    1. Hecher, Laura
    2. Johannsen, Jessika
    3. Bierhals, Tatjana
    4. Buhk, Jan-Hendrik
    5. Hempel, Maja
    6. Denecke, Jonas

    2020 - Forschungsinformationssystem des UKE
16. 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?

    1. Johannsen, Jessika
    2. Fuhrmann, Lena
    3. Grolle, Benjamin
    4. Morgenstern, Lydia
    5. Wiegand-Grefe, Silke
    6. Denecke, Jonas

    2020 - Forschungsinformationssystem des UKE
17. Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

    1. Bartels, Frederik
    2. Krohn, Stephan
    3. Nikolaus, Marc
    4. Johannsen, Jessika
    5. Wickström, Ronny
    6. Schimmel, Mareike
    7. Häusler, Martin

    2020 - Forschungsinformationssystem des UKE
18. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    1. Andersen, Peter M
    2. Nordström, Ulrika
    3. Tsiakas, Konstantinos
    4. Johannsen, Jessika
    5. Volk, Alexander E
    6. Bierhals, Tatjana
    7. Zetterström, Per

    2019 - Forschungsinformationssystem des UKE
19. Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    1. Mahler, Elisa A
    2. Johannsen, Jessika
    3. Tsiakas, Konstantinos
    4. Kloth, Katja
    5. Lüttgen, Sabine
    6. Mühlhausen, Chris
    7. Alhaddad, Bader

    2019 - Forschungsinformationssystem des UKE
20. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

    1. Kloth, Katja
    2. Bierhals, Tatjana
    3. Johannsen, Jessika
    4. Harms, Frederike L
    5. Juusola, Jane
    6. Johnson, Mark C
    7. Grange, Dorothy K

    2019 - Forschungsinformationssystem des UKE