E-LIB Suche - Ergebnisse für: Schuelke, Markus

1

A Mild But Typical Presentation of Bethlem Myopathy With a ..:

Wilpert, Nina-Maria ; Schuelke, Markus ; Lala, Birgit.
Neurology. 102 (2024) 11 - p. , 2024

Link: https://doi.org/10.1212/..

2

Biallelic NDC1 variants that interfere with ALADIN binding ..:

Smits, Daphne J. ; Dekker, Jordy ; Douben, Hannie...
Human Genetics and Genomics Advances. , 2024

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

3

Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin l..:

Viezens, Ingeborg ; Knierim, Ellen ; Deubzer, Hedwig E....
Cancers. 16 (2024) 13 - p. 2452 , 2024

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

4

Pediatric de novo movement disorders and ataxia in the cont..:

Wilpert, Nina-Maria ; de Almeida Marcelino, Ana Luísa ; Knierim, Ellen...
Journal of Neurology. 270 (2023) 10 - p. 4593-4607 , 2023

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

5

Beyond vacuolar pathology: Multiomic profiling of Danon dis..:

Kleefeld, Felix ; Hentschel, Andreas ; von Moers, Arpad...
Neuropathology and Applied Neurobiology. 49 (2023) 4 - p. , 2023

Link: https://doi.org/10.1111/..

6

Autoantibody detection by a live cell-based assay in conven..:

Hoffmann, Sarah ; Waters, Patrick ; Jacobson, Leslie...
Neuromuscular Disorders. 33 (2023) 2 - p. 139-144 , 2023

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

7

258th ENMC international workshop Leigh syndrome spectrum: ..:

Diodato, Daria ; Schiff, Manuel ; Cohen, Bruce H....
Neuromuscular Disorders. 33 (2023) 8 - p. 700-709 , 2023

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

8

Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A P..:

Schnell, Sofia ; Knierim, Ellen ; Bittigau, Petra...
Cells. 12 (2023) 4 - p. 606 , 2023

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

9

Dystrophin myonuclear domain restoration governs treatment ..:

Morin, Adrien ; Stantzou, Amalia ; Petrova, Olga N....
Proceedings of the National Academy of Sciences. 120 (2023) 2 - p. , 2023

Link: https://doi.org/10.1073/..

10

Mutations in plasticity-related-gene-1 (PRG-1) protein cont..:

Knierim, Ellen ; Vogt, Johannes ; Kintscher, Michael...
Cerebral Cortex. 33 (2023) 12 - p. 7454-7467 , 2023

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

11

Generation of two mother–child pairs of iPSCs from maternal..:

Henke, Marie-Thérèse ; Zink, Annika ; Diecke, Sebastian..
Stem Cell Research. 67 (2023) - p. 103030 , 2023

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

12

Establishing Patient-Centered Outcomes for MCT8 Deficiency:..:

Wilpert, Nina-Maria ; Tonduti, Davide ; Vaia, Ylenia...
Neuropsychiatric Disease and Treatment. 19 (2023) - p. 2195-2216 , 2023

Link: https://doi.org/10.2147/..

13

Morphologic and Molecular Patterns of Polymyositis With Mit..:

Kleefeld, Felix ; Uruha, Akinori ; Schänzer, Anne...
Neurology. 99 (2022) 20 - p. , 2022

Link: https://doi.org/10.1212/..

14

Atypical NMDA receptor expression in a diffuse astrocytoma,..:

Nikolaus, Marc ; Koch, Arend ; Stenzel, Werner...
Acta Neuropathologica. 144 (2022) 2 - p. 385-389 , 2022

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

15

Generation of four iPSC lines from four patients with Leigh..:

Lorenz, Carmen ; Zink, Annika ; Henke, Marie-Therese...
Stem Cell Research. 61 (2022) - p. 102742 , 2022

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