E-LIB Suche - Ergebnisse für: Straub, Volker

1

Imaging mass cytometry analysis of Becker muscular dystroph..:

Piñol-Jurado, Patricia ; Verdú-Díaz, José ; Fernández-Simón, Esther...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Novel OBSCN variants associated with a risk to exercise-int..:

Zemorshidi, Fariba ; Töpf, Ana ; Claeys, Kristl G....
Neuromuscular Disorders. 34 (2024) - p. 83-88 , 2024

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

3

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

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

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

4

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys Wit..:

Dang, Utkarsh J. ; Damsker, Jesse M. ; Guglieri, Michela...
Neurology. 102 (2024) 5 - p. , 2024

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

5

Functional abilities, respiratory and cardiac function in a..:

Schiava, Marianela ; Lofra, Robert Muni ; Bourke, John P....
European Journal of Neurology. 31 (2024) 6 - p. , 2024

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

6

Magnetic resonance imaging-based criteria to differentiate ..:

Bolano-Diaz, Carla ; Verdú-Díaz, José ; Gonzalez-Chamorro, Alejandro...
Neuromuscular Disorders. 34 (2024) - p. 54-60 , 2024

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

7

Is ongoing testosterone required after pubertal induction i..:

Wood, Claire L ; Hollingsworth, Kieren G ; Bokaie, Edrina...
Endocrine Connections. 12 (2023) 12 - p. , 2023

Link: https://doi.org/10.1530/..

8

Standardizing Paediatric Clinical Data: The Development of ..:

Sen, Anando ; Hedley, Victoria ; Owen, John...
Journal of the Society for Clinical Data Management; Fall 2022 - Innovative Implementation of CDISC Standards. 2 (2023) 3 - p. , 2023

Link: https://doi.org/10.47912..

9

Letter to the Editor: In response to P.R. Clemens et al., E..:

Muntoni, Francesco ; Straub, Volker ; Servais, Laurent.
Journal of Neuromuscular Diseases. 10 (2023) 6 - p. 1151-1153 , 2023

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

10

The Dilemma of Choice for Duchenne Patients Eligible for Ex..:

Aartsma-Rus, Annemieke ; De Waele, Liesbeth ; Houwen-Opstal, Saskia...
Journal of Neuromuscular Diseases. 10 (2023) 3 - p. 315-325 , 2023

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

11

Expanding the muscle imaging spectrum in dysferlinopathy: d..:

Llansó, Laura ; Moore, Ursula ; Bolano-Diaz, Carla...
Neuromuscular Disorders. 33 (2023) 4 - p. 349-357 , 2023

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

12

DMDGenotypes and Motor Function in Duchenne Muscular Dystro..:

Muntoni, Francesco ; Signorovitch, James ; Sajeev, Gautam...
Neurology. 100 (2023) 15 - p. , 2023

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

13

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

14

Expanding the neurodevelopmental phenotype associated with ..:

Poole, Rebecca L. ; Badonyi, Mihaly ; Cozens, Alison...
European Journal of Medical Genetics. 66 (2023) 3 - p. 104696 , 2023

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

15

Glycogen storage disease type IV without detectable polyglu..:

Oliwa, Agata ; Langlands, Gavin ; Sarkozy, Anna...
Neuromuscular Disorders. 33 (2023) 9 - p. 98-105 , 2023

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