E-LIB Suche - Ergebnisse für: Vill, Katharina

1

Gentherapien bei monogenen Erkrankungen: Welche seltenen Er..:

Blaschek, Astrid ; Ziegler, Andreas ; Hauck, Fabian...
Pädiatrie. 36 (2024) 1 - p. 40-46 , 2024

Link: https://doi.org/10.1007/..

2

Biallelic variants in SNUPN cause a limb girdle muscular dy..:

Iruzubieta, Pablo ; Damborenea, Alberto ; Ioghen, Mihaela...
Brain. , 2024

Link: https://doi.org/10.1093/..

3

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years..:

Kölbel, Heike ; Kopka, Marius ; Modler, Laura...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 143-151 , 2024

Link: https://doi.org/10.3233/..

4

Instrumented Balance Error Scoring System in Children and A..:

Schönberg, Nils K. T. ; Poppel, Julius ; Howell, David...
Diagnostics. 14 (2024) 5 - p. 513 , 2024

Link: https://doi.org/10.3390/..

5

5qSMA: standardised retrospective natural history assessmen..:

Vill, Katharina ; Tacke, Moritz ; König, Anna...
Journal of Neurology. 271 (2024) 5 - p. 2787-2797 , 2024

Link: https://doi.org/10.1007/..

6

Challenges in Establishing the Diagnosis of PRRT2‐Related D..:

Dzinovic, Ivana ; Graf, Elisabeth ; Brugger, Melanie...
Movement Disorders Clinical Practice. 10 (2023) 7 - p. 1159-1161 , 2023

Link: https://doi.org/10.1002/..

7

TAOK1-related neurodevelopmental disorder: A new differenti..:

Blaschek, Astrid ; Sitzberger, Alexandra ; Brugger, Melanie...
Parkinsonism & Related Disorders. 109 (2023) - p. 105320 , 2023

Link: https://doi.org/10.1016/..

8

Parental Burden and Quality of Life in 5q-SMA Diagnosed by ..:

Kölbel, Heike ; Modler, Laura ; Blaschek, Astrid...
Children. 9 (2022) 12 - p. 1829 , 2022

Link: https://doi.org/10.3390/..

9

Improved upper limb function in non-ambulant children with ..:

Pechmann, Astrid ; Behrens, Max ; Dörnbrack, Katharina...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Spinal Muscular Atrophy – Is Newborn Screening Too Late for..:

Schwartz, Oliver ; Kölbel, Heike ; Blaschek, Astrid...
Journal of Neuromuscular Diseases. 9 (2022) 3 - p. 389-396 , 2022

Link: https://doi.org/10.3233/..

11

Effects of a reduction of the number of electrodes in the E..:

Tacke, Moritz ; Janson, Katharina ; Vill, Katharina...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

12

Neuromuscular conditions and the impact of cystine‐depletin..:

Vill, Katharina ; Müller‐Felber, Wolfgang ; Landfarth, Timotheus...
Journal of Inherited Metabolic Disease. 45 (2022) 2 - p. 183-191 , 2022

Link: https://doi.org/10.1002/..

13

There is more to it than just congenital heart defects – Th..:

Westphal, Dominik S. ; Mastantuono, Elisa ; Seidel, Heide...
Gene. 814 (2022) - p. 146167 , 2022

Link: https://doi.org/10.1016/..

14

The bottom-up approach: Non-invasive peripheral neurostimul..:

Börner, Corinna ; Urban, Giada ; Beaulieu, Louis-David...
European Journal of Paediatric Neurology. 32 (2021) - p. 16-28 , 2021

Link: https://doi.org/10.1016/..

15

1H-NMR-based metabolic profiling identifies non-invasive di..:

Saffari, Afshin ; Cannet, Claire ; Blaschek, Astrid...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..