41 Einträge gefunden

1. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

   1. Ammer, Luise Sophie
   2. Täuber, Karolin
   3. Perez, Anna
   4. Dohrmann, Thorsten
   5. Denecke, Jonas
   6. Santer, René
   7. Blümlein, Ulrike

   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. 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
4. 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
5. Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET

   1. Wiegand-Grefe, Silke
   2. Denecke, Jonas

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
6. 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
7. 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
8. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

   1. El Ghaleb, Yousra
   2. Schneeberger, Pauline E
   3. Fernández-Quintero, Monica L
   4. Geisler, Stefanie M
   5. Pelizzari, Simone
   6. Polstra, Abeltje M
   7. van Hagen, Johanna M

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
9. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

   1. Knapp, Karen M
   2. Jenkins, Danielle E
   3. Sullivan, Rosie
   4. Harms, Frederike L
   5. von Elsner, Leonie
   6. Ockeloen, Charlotte W
   7. de Munnik, Sonja

   2021 - Forschungsinformationssystem des UKE
10. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    1. Bley, Annette
    2. Denecke, Jonas
    3. Kohlschütter, Alfried
    4. Schön, Gerhard
    5. Hischke, Sandra
    6. Guder, Philipp
    7. Bierhals, Tatjana

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
11. 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

    1. Schwering, Christoph
    2. Kammler, Gertrud
    3. Wibbeler, Eva
    4. Christner, Martin
    5. Knobloch, Johannes K-M
    6. Nickel, Miriam
    7. Denecke, Jonas

    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. 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
14. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

    1. Ammer, Luise Sophie
    2. Pohl, Sandra
    3. Breyer, Sandra Rafaela
    4. Aries, Charlotte
    5. Denecke, Jonas
    6. Perez, Anna
    7. Petzoldt, Martin

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
15. Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!

    1. Fröschle, Glenn M C
    2. Ebenebe, Chinedu U
    3. Herrmann, Jochen
    4. Denecke, Jonas
    5. Singer, Dominique
    6. Dabek, Martin

    2021 - Forschungsinformationssystem des UKE
16. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    1. Kloth, Katja
    2. Lozic, Bernarda
    3. Tagoe, Julia
    4. Hoffer, Mariëtte J V
    5. Van der Ven, Amelie
    6. Thiele, Holger
    7. Altmüller, Janine

    2021 - Forschungsinformationssystem des UKE - frei zugänglich
17. 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
18. 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

    1. Boettcher, Johannes
    2. Filter, Bonnie
    3. Denecke, Jonas
    4. Hot, Amra
    5. Daubmann, Anne
    6. Zapf, Antonia
    7. Wegscheider, Karl

    2020 - Forschungsinformationssystem des UKE
19. 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
20. Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

    1. Boettcher, Johannes
    2. Denecke, Jonas
    3. Barkmann, Claus
    4. Wiegand-Grefe, Silke

    2020 - Forschungsinformationssystem des UKE