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Diaz-Manera, Jordi
547
results:
Search for persons
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Format
Online (547)
Mediatypes
Articles (Online) (274)
Bookchapter (Online) (1)
OpenAccess-fulltext (272)
Languages
english (498)
spanish (5)
Sorted by: Relevance
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1
Digenic inheritance involving a muscle-specific protein kin..:
Töpf, Ana
;
Cox, Dan
;
Zaharieva, Irina T.
...
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024
Link:
https://doi.org/10.1038/..
?
2
Safety and efficacy of losmapimod in facioscapulohumeral mu..:
Tawil, Rabi
;
Wagner, Kathryn R
;
Hamel, Johanna I
...
The Lancet Neurology. 23 (2024) 5 - p. 477-486 , 2024
Link:
https://doi.org/10.1016/..
?
3
Facioscapulohumeral Muscular Dystrophy European Patient Sur..:
McNiff, Megan M.
;
Hawkins, Sheila
;
Haase, Bine
...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 459-472 , 2024
Link:
https://doi.org/10.3233/..
?
4
COMET post hoc analysis: Efficacy of long-term avalglucosid..:
Toscano, Antonio
;
Kishnani, Priya
;
Dimachkie, Mazen M.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108058 , 2024
Link:
https://doi.org/10.1016/..
?
5
Defining clinical endpoints in limb girdle muscular dystrop..:
Doody, Amy
;
Alfano, Lindsay
;
Diaz-Manera, Jordi
...
BMC Neurology. 24 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
6
Effect size analysis of cipaglucosidase alfa plus miglustat..:
Mozaffar, Tahseen
;
Bratkovic, Drago
;
Byrne, Barry J.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107971 , 2024
Link:
https://doi.org/10.1016/..
?
7
P028: Switching treatment to cipaglucosidase alfa+miglustat..:
Kishnani, Priya
;
Byrne, Barry
;
Claeys, Kristl
...
Genetics in Medicine Open. 2 (2024) - p. 100905 , 2024
Link:
https://doi.org/10.1016/..
?
8
104-week efficacy and safety of cipaglucosidase alfa plus m..:
Schoser, Benedikt
;
Kishnani, Priya S.
;
Bratkovic, Drago
...
Journal of Neurology. 271 (2024) 5 - p. 2810-2823 , 2024
Link:
https://doi.org/10.1007/..
?
9
Switching treatment to cipaglucosidase alfa plus miglustat ..:
Toscano, Antonio
;
Byrne, Barry J.
;
Claeys, Kristl G.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108059 , 2024
Link:
https://doi.org/10.1016/..
?
10
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/..
?
11
Disease-associated comorbidities, medication records and an..:
Schiava, Marianela
;
Lofra, Robert Muni
;
Bourke, John P.
...
Neuromuscular Disorders. 41 (2024) - p. 8-19 , 2024
Link:
https://doi.org/10.1016/..
?
12
Post-hoc Nonparametric Analysis of Forced Vital Capacity in..:
Boentert, Matthias
;
Campana, Emmanuelle Salort
;
Attarian, Shahram
...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 369-374 , 2024
Link:
https://doi.org/10.3233/..
?
13
Applying the win ratio method in clinical trials of orphan ..:
Boentert, Matthias
;
Berger, Kenneth I.
;
Díaz-Manera, Jordi
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
14
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/..
?
15
NEO1/NEO-EXT studies: Long-term muscle quantitative magneti..:
Byrne, Barry
;
Carlier, Pierre G.
;
Vissing, John
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107783 , 2024
Link:
https://doi.org/10.1016/..
1-15