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Paradas, Carmen
244  results:
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1

EURO-NMD registry: federated FAIR infrastructure, innovativ..:

Atalaia, Antonio ; Wandrei, Dagmar ; Lalout, Nawel...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

The Iberian Roma Population Variant Server (IRPVS):

Mavillard, Fabiola ; Perez-Florido, Javier ; Ortuño, Francisco M....
Journal of Genetics and Genomics.  51 (2024)  7 - p. 769-773 , 2024
Link: https://doi.org/10.1016/..
 
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3

A Laing distal myopathy–associated proline substitution in ..:

Buvoli, Massimo ; Wilson, Genevieve C.K. ; Buvoli, Ada...
Journal of Clinical Investigation.  134 (2024)  9 - p. , 2024
Link: https://doi.org/10.1172/..
 
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4

Correction to: Analysis of muscle magnetic resonance imagin..:

Esteller, Diana ; Schiava, Marianela ; Verdú-Díaz, José...
Journal of Neurology.  271 (2024)  4 - p. 2147-2148 , 2024
Link: https://doi.org/10.1007/..
 
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5

Description of clinical and genetic features of 122 patient..:

Martinez-Marin, Rafael Jenaro ; Reyes-Leiva, David ; Nascimento, Andrés...
Neuromuscular Disorders.  34 (2024)  - p. 1-8 , 2024
Link: https://doi.org/10.1016/..
 
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6

A splice-altering homozygous variant in COX18 causes severe..:

Mavillard, Fabiola ; Guerra-Castellano, Alejandra ; Guerrero-Gómez, David...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  7 - p. 167330 , 2024
Link: https://doi.org/10.1016/..
 
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7

Disease modeling and gene correction of LGMDR21 iPSCs eluci..:

Ortiz-Vitali, Jose L. ; Wu, Jianbo ; Xu, Nasa...
Molecular Therapy - Nucleic Acids.  33 (2023)  - p. 683-697 , 2023
Link: https://doi.org/10.1016/..
 
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8

Loss of the matrix metalloproteinase-10 causes premature fe..:

Bobadilla Muñoz, Miriam ; Orbe, Josune ; Abizanda, Gloria...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Lessons learned from a sporadic FUSopathy in a young man: a..:

García-Roldán, Ernesto ; Rivas-Infante, Eloy ; Medina-Rodríguez, Manuel...
BMC Neurology.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

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/..
 
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11

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/..
 
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12

Characterizing SOD1 mutations in Spain: The impact of genot..:

Vázquez‐Costa, Juan F. ; Borrego‐Hernández, Daniel ; Paradas, Carmen...
European Journal of Neurology.  30 (2023)  4 - p. 861-871 , 2023
Link: https://doi.org/10.1111/..
 
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13

Analysis of muscle magnetic resonance imaging of a large co..:

Esteller, Diana ; Schiava, Marianela ; Verdú-Díaz, José...
Journal of Neurology.  270 (2023)  12 - p. 5849-5865 , 2023
Link: https://doi.org/10.1007/..
 
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14

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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15

Ablation of the carboxy-terminal end of MAMDC2 causes a dis..:

Mavillard, Fabiola ; Servian-Morilla, Emilia ; Dofash, Lein...
Brain.  146 (2023)  12 - p. 5235-5248 , 2023
Link: https://doi.org/10.1093/..
 
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