E-LIB Suche - Ergebnisse für: Schöls, Ludger

1

Inventory of current practices regarding hematopoietic stem..:

Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A....
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Factors Influencing Health-Related Quality of Life of Patie..:

Weber, Niklas ; Buchholz, Maresa ; Rädke, Anika...
The Cerebellum. , 2024

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

3

Neuropathy in ARSACS is demyelinating but without typical n..:

Kneer, Katharina ; Straub, Stephanie ; Wittlinger, Julia...
Journal of Neurology. 271 (2024) 5 - p. 2494-2502 , 2024

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

4

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A....
European Journal of Paediatric Neurology. 49 (2024) - p. 141-154 , 2024

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

5

Recommendations for optimal interdisciplinary management an..:

Graessner, Holm ; Reinhard, Carola ; Bäumer, Tobias...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

6

Blood and cerebellar abundance of ATXN3 splice variants in ..:

Raposo, Mafalda ; Hübener-Schmid, Jeannette ; Tagett, Rebecca...
Neurobiology of Disease. 193 (2024) - p. 106456 , 2024

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

7

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy. 26 (2024) 7 - p. 739-748 , 2024

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

8

FARS‐ADL across Ataxias: Construct Validity, Sensitivity to..:

Traschütz, Andreas ; Fleszar, Zofia ; Hengel, Holger...
Movement Disorders. 39 (2024) 6 - p. 965-974 , 2024

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

9

SCAPER-Related Autosomal Recessive Retinitis Pigmentosa wit..:

Sharkia, Rajech ; Zalan, Abdelnaser ; Kessel, Amit...
Genes. 15 (2024) 6 - p. 791 , 2024

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

10

Vitamin D3 deficiency and osteopenia in spastic paraplegia ..:

Ehnert, Sabrina ; Hauser, Stefan ; Hengel, Holger...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

11

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency..:

Traschütz, Andreas ; Adarmes‐Gomez, Astrid D. ; Anheim, Mathieu...
Movement Disorders. 38 (2023) 6 - p. 1109-1112 , 2023

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

12

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27..:

Hengel, Holger ; Pellerin, David ; Wilke, Carlo...
Movement Disorders. 38 (2023) 8 - p. 1557-1558 , 2023

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

13

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target E..:

Bux, Jessica ; Sen, Nesli Ece ; Klink, Isa-Maria...
Molecular Neurobiology. 60 (2023) 6 - p. 3553-3567 , 2023

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

14

IntronicFGF14GAA repeat expansions are a common cause of at..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 175-179 , 2023

Link: https://doi.org/10.1136/..

15

A deep intronic FGF14 GAA repeat expansion causes late-onse..:

Pellerin, David ; Danzi, Matt ; Wilke, Carlo...
Journal of the Neurological Sciences. 455 (2023) - p. 121139 , 2023

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