9 Einträge gefunden

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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