E-LIB Suche - Ergebnisse für: Anna Sarkozy

1

Quantifying Variability in Motor Function in Duchenne Muscu..:

Stimpson, Georgia ; Ridout, Deborah ; Wolfe, Amy...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 153-166 , 2024

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

2

Quantitative Foot Muscle Magnetic Resonance Imaging Reliabl..:

Doherty, Carolynne M. ; Howard, Paige ; O'Donnell, Luke F....
Annals of Neurology. 96 (2024) 1 - p. 170-174 , 2024

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

3

CIAO1 loss of function causes a neuromuscular disorder with..:

Maio, Nunziata ; Orbach, Rotem ; Zaharieva, Irina T....
Journal of Clinical Investigation. 134 (2024) 12 - p. , 2024

Link: https://doi.org/10.1172/..

4

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/..

5

Muscle magnetic resonance imaging involvement patterns in n..:

Perry, Luke ; Stimpson, Georgia ; Singh, Leeha...
Annals of Clinical and Translational Neurology. 10 (2023) 7 - p. 1219-1229 , 2023

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

6

263rd ENMC International Workshop: Focus on female carriers..:

Sarkozy, Anna ; Quinlivan, Rosaline ; Bourke, John P....
Neuromuscular Disorders. 33 (2023) 3 - p. 274-284 , 2023

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

7

Long-term Natural History of Pediatric Dominant and Recessi..:

Sarkozy, Anna ; Sa, Mario ; Ridout, Deborah...
Neurology. 101 (2023) 15 - p. , 2023

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

8

Growth pattern trajectories in boys with Duchenne muscular ..:

Stimpson, Georgia ; Raquq, Sarah ; Chesshyre, Mary...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

9

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric..:

Brunet Garcia, Laia ; Hajra, Ankita ; Field, Ella...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique..:

Zambon, Alberto A. ; Abel, François ; Linnane, Barry...
Neuromuscular Disorders. 32 (2022) 3 - p. 245-254 , 2022

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

11

Recessive variants inCOL25A1gene as novel cause of arthrogr..:

Natera‐de Benito, Daniel ; Jurgens, Julie A. ; Yeung, Alison...
Human Mutation. 43 (2022) 4 - p. 487-498 , 2022

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

12

Early clinical and pre-clinical therapy development in Nema..:

Fisher, Gemma ; Mackels, Laurane ; Markati, Theodora...
Expert Opinion on Therapeutic Targets. 26 (2022) 10 - p. 853-867 , 2022

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

13

GGPS1‐associated muscular dystrophy with and without hearin..:

Kaiyrzhanov, Rauan ; Perry, Luke ; Rocca, Clarissa...
Annals of Clinical and Translational Neurology. 9 (2022) 9 - p. 1465-1474 , 2022

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

14

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
Acta Neuropathologica. 141 (2021) 3 - p. 431-453 , 2021

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

15

Homozygous intronic variants in TPM2 cause recessively inhe..:

Schirwani, Schaida ; Sarkozy, Anna ; Phadke, Rahul...
Neuromuscular Disorders. 31 (2021) 4 - p. 359-366 , 2021

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