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Díaz-Manera, Jordi
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

265th ENMC International Workshop: Muscle imaging in Facios..:

Monforte, Mauro ; Attarian, Shahram ; Vissing, John...
Neuromuscular Disorders.  33 (2023)  1 - p. 65-75 , 2023
Link: https://doi.org/10.1016/..
 
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15

Myostatin and follistatin as monitoring and prognostic biom..:

Moore, Ursula ; Fernández-Simón, Esther ; Schiava, Marianela...
Neuromuscular Disorders.  33 (2023)  2 - p. 199-207 , 2023
Link: https://doi.org/10.1016/..
 
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