15 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. 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
3. 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
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. 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
7. 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
8. 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
9. 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
10. 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

    1. Johannsen, Jessika
    2. Bierhals, Tatjana
    3. Deindl, Philipp
    4. Hecher, Laura
    5. Hermann, Katharina
    6. Hempel, Maja
    7. Kloth, Katja

    2019 - Forschungsinformationssystem des UKE
11. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

    1. Johannsen, Jessika
    2. Kortüm, Fanny
    3. Rosenberger, Georg
    4. Bokelmann, Kristin
    5. Schirmer, Markus A
    6. Denecke, Jonas
    7. Santer, René

    2018 - Forschungsinformationssystem des UKE
12. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

    1. Johannsen, Jessika
    2. Hempel, Maja
    3. Diehl, Thilo
    4. Haack, Tobias B
    5. Denecke, Jonas

    2017 - Forschungsinformationssystem des UKE - frei zugänglich
13. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

    1. Kloth, Katja
    2. Denecke, Jonas
    3. Hempel, Maja
    4. Johannsen, Jessika
    5. Strom, Tim M
    6. Kubisch, Christian
    7. Lessel, Davor

    2017 - Forschungsinformationssystem des UKE
14. Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

    1. Johannsen, Jessika
    2. Nickel, Miriam
    3. Schulz, Angela
    4. Denecke, Jonas

    2016 - Forschungsinformationssystem des UKE
15. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    1. Hempel, Maja
    2. Cremer, Kirsten
    3. Ockeloen, Charlotte W
    4. Lichtenbelt, Klaske D
    5. Herkert, Johanna C
    6. Denecke, Jonas
    7. Haack, Tobias B

    2015 - Forschungsinformationssystem des UKE