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Fernandez-Torron, Roberto
169  Ergebnisse:
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1

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

Iruzubieta, Pablo ; Damborenea, Alberto ; Ioghen, Mihaela...
Brain.  147 (2024)  8 - p. 2867-2883 , 2024
Link: https://doi.org/10.1093/..
 
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2

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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3

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
Journal of Neurology.  269 (2022)  7 - p. 3550-3562 , 2022
Link: https://doi.org/10.1007/..
 
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4

Senescence plays a role in myotonic dystrophy type 1:

García-Puga, Mikel ; Saenz-Antoñanzas, Ander ; Gerenu, Gorka...
JCI Insight.  7 (2022)  19 - p. , 2022
Link: https://doi.org/10.1172/..
 
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5

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystro..:

Alegre-Cortés, Eva ; Giménez-Bejarano, Alberto ; Uribe-Carretero, Elisabet...
Cells.  11 (2022)  19 - p. 3018 , 2022
Link: https://doi.org/10.3390/..
 
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6

A Descriptive Analysis of ATTR Amyloidosis in Spain from th..:

González-Moreno, Juan ; Losada-López, Inés ; Cisneros-Barroso, Eugenia...
Neurology and Therapy.  10 (2021)  2 - p. 833-845 , 2021
Link: https://doi.org/10.1007/..
 
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7

Miyoshi myopathy and limb girdle muscular dystrophy R2 are ..:

Moore, Ursula ; Gordish, Heather ; Diaz-Manera, Jordi...
Neuromuscular Disorders.  31 (2021)  4 - p. 265-280 , 2021
Link: https://doi.org/10.1016/..
 
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8

Accuracy of a machine learning muscle MRI-based tool for th..:

Verdú-Díaz, José ; Alonso-Pérez, Jorge ; Nuñez-Peralta, Claudia...
Neurology.  94 (2020)  10 - p. , 2020
Link: https://doi.org/10.1212/..
 
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9

Spanish Pompe registry: Baseline characteristics of first 4..:

Alonso-Pérez, Jorge ; Segovia, Sonia ; Domínguez-González, Cristina...
Medicina Clínica (English Edition).  154 (2020)  3 - p. 80-85 , 2020
Link: https://doi.org/10.1016/..
 
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10

Intensive Teenage Activity Is Associated With Greater Muscl..:

Moore, Ursula ; Jacobs, Marni ; Fernandez-Torron, Roberto...
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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11

Clinical, morphological and genetic characterization of Bro..:

Molenaar, Joery P ; Verhoeven, Jamie I ; Rodenburg, Richard J...
Brain.  143 (2020)  2 - p. 452-466 , 2020
Link: https://doi.org/10.1093/..
 
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12

Clinical and therapeutic features of myasthenia gravis in a..:

Cortés-Vicente, Elena ; Álvarez-Velasco, Rodrigo ; Segovia, Sonia...
Neurology.  94 (2020)  11 - p. , 2020
Link: https://doi.org/10.1212/..
 
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13

Myotonic Dystrophy type 1 cells display impaired metabolism..:

García-Puga, Mikel ; Saenz-Antoñanzas, Ander ; Fernández-Torrón, Roberto..
Aging.  12 (2020)  7 - p. 6260-6275 , 2020
Link: https://doi.org/10.18632..
 
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14

Late-onset thymidine kinase 2 deficiency: a review of 18 ca..:

Domínguez-González, Cristina ; Hernández-Laín, Aurelio ; Rivas, Eloy...
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

PDGF-BB serum levels are decreased in adult onset Pompe pat..:

Fernández-Simón, Esther ; Carrasco-Rozas, Ana ; Gallardo, Eduard...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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