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Natera‐de Benito, Daniel
117  results:
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1

Epilepsy in Duchenne and Becker muscular dystrophies:

Armijo Gómez, Jesus Alfonso ; Fernandez‐Garcia, Miguel A. ; Camacho, Ana...
Annals of Clinical and Translational Neurology.  11 (2024)  6 - p. 1456-1464 , 2024
Link: https://doi.org/10.1002/..
 
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2

Common pathophysiology for ANXA11 disorders caused by aspar..:

Natera‐de Benito, Daniel ; Olival, Jonathan ; Garcia‐Cabau, Carla...
Annals of Clinical and Translational Neurology.  10 (2023)  3 - p. 408-425 , 2023
Link: https://doi.org/10.1002/..
 
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3

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/..
 
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4

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐cl..:

Natera‐de Benito, Daniel ; Muchart, Jordi ; Itzep, Debora...
Epilepsia.  61 (2020)  5 - p. 971-983 , 2020
Link: https://doi.org/10.1111/..
 
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5

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle..:

Carrera‐García, Laura ; Natera‐de Benito, Daniel ; Dieterich, Klaus...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 915-926 , 2019
Link: https://doi.org/10.1002/..
 
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6

A patient with a duplication of chromosome 3p (p24.1p26.2):..:

Natera‐de Benito, Daniel ; García‐Pérez, M Asunción ; Martínez‐Granero, Miguel Ángel.
American Journal of Medical Genetics Part A.  164 (2013)  2 - p. 548-550 , 2013
Link: https://doi.org/10.1002/..
 
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7

Advancing the Understanding of Vesicle-Associated Membrane ..:

Natera-de Benito, Daniel ; Pugliese, Alessia ; Polavarapu, Kiran...
Pediatric Neurology.  157 (2024)  - p. 5-13 , 2024
Link: https://doi.org/10.1016/..
 
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8

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: ..:

Martínez Olorón, Patricia ; Alegría, Iosune ; Cesar, Sergi...
International Journal of Molecular Sciences.  25 (2024)  11 - p. 5836 , 2024
Link: https://doi.org/10.3390/..
 
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9

Improving Diagnostic Precision: Phenotype-Driven Analysis U..:

Estévez-Arias, Berta ; Matalonga, Leslie ; Martorell, Loreto...
Journal of Neuromuscular Diseases.  11 (2024)  3 - p. 647-653 , 2024
Link: https://doi.org/10.3233/..
 
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10

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics.  32 (2024)  4 - p. 426-434 , 2024
Link: https://doi.org/10.1038/..
 
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11

Innovative Computerized Dystrophin Quantification Method Ba..:

Codina, Anna ; Roldán, Mònica ; Natera-de Benito, Daniel...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6358 , 2023
Link: https://doi.org/10.3390/..
 
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12

Full-Length SMN Transcript in Extracellular Vesicles as Bio..:

Trifunov, Selena ; Natera-de Benito, Daniel ; Carrera-García, Laura...
Journal of Neuromuscular Diseases.  10 (2023)  4 - p. 653-665 , 2023
Link: https://doi.org/10.3233/..
 
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13

LMNA-related muscular dystrophy: Identification of variants..:

Cesar, Sergi ; Coll, Monica ; Fiol, Victoria...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

The emerging spectrum of fetal acetylcholine receptor antib..:

Allen, Nicholas M ; O'Rahelly, Mark ; Eymard, Bruno...
Brain.  146 (2023)  10 - p. 4233-4246 , 2023
Link: https://doi.org/10.1093/..
 
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15

Characterization of cardiac involvement in children with LM..:

Cesar, Sergi ; Campuzano, Oscar ; Cruzalegui, Jose...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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