E-LIB Suche - Ergebnisse für: Udd, Bjarne

1

Revealing myopathy spectrum: integrating transcriptional an..:

Zhong, Huahua ; Sian, Veronica ; Johari, Mridul...
Communications Biology. 7 (2024) 1 - p. , 2024

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

2

A recurrent ACTA1 amino acid change in mosaic form causes m..:

Lehtokari, Vilma-Lotta ; Sagath, Lydia ; Davis, Mark...
Neuromuscular Disorders. 34 (2024) - p. 32-40 , 2024

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

3

Biophysical and cellular analysis of myopathy-linked titin ..:

Rees, Martin ; Kho, Ay Lin ; Muirhead, Robert C....
Biophysical Journal. 123 (2024) 3 - p. 60a , 2024

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

4

Haplotype information of large neuromuscular disease genes ..:

Lehtonen, Johanna ; Sulonen, Anna-Maija ; Almusa, Henrikki...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

5

Distal Muscular Dystrophies:

, In: Current Clinical Neurology; Principles and Practice of the Muscular Dystrophies,

Udd, Bjarne - p. 131-146 , 2023

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

6

Correction: Differential effects of mutations of POPDC prot..:

Swan, Alexander H. ; Schindler, Roland F. R. ; Savarese, Marco...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

7

A comprehensive study of skeletal muscle imaging in FHL1‐re..:

Mohassel, Payam ; Yun, Pomi ; Syeda, Safoora...
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1442-1455 , 2023

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

8

HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:

Tedesco, Barbara ; Vendredy, Leen ; Adriaenssens, Elias...
Autophagy. 19 (2023) 8 - p. 2217-2239 , 2023

Link: https://doi.org/10.1080/..

9

Distal myopathy:

, In: Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders; Handbook of Clinical Neurology,

Savarese, Marco ; Jokela, Manu ; Udd, Bjarne - p. 497-519 , 2023

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

10

A retrospective study of accuracy and usefulness of electro..:

Periviita, Vesa ; Jokela, Manu ; Palmio, Johanna.
Journal of Neurology. 271 (2023) 4 - p. 1802-1812 , 2023

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

11

Extension of the DNAJB2a isoform in a dominant neuromyopath..:

Sarparanta, Jaakko ; Jonson, Per Harald ; Reimann, Jens...
Human Molecular Genetics. 32 (2023) 21 - p. 3029-3039 , 2023

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

12

CACNA1SVariant Associated With a Myalgic Myopathy Phenotype:

Periviita, Vesa ; Palmio, Johanna ; Jokela, Manu...
Neurology. 101 (2023) 18 - p. , 2023

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

13

Long‐term favorable prognosis in late onset dominant distal..:

Lillback, Victoria ; Savarese, Marco ; Sandholm, Niina..
European Journal of Neurology. 30 (2023) 4 - p. 1080-1088 , 2023

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

14

Differential effects of mutations of POPDC proteins on hete..:

Swan, Alexander H. ; Schindler, Roland F. R. ; Savarese, Marco...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

15

Anoctamin-5 related muscle disease: clinical and genetic fi..:

de Bruyn, Alexander ; Montagnese, Federica ; Holm-Yildiz, Sonja...
Brain. 146 (2023) 9 - p. 3800-3815 , 2023

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