Daniel Natera‐de Benito

Author

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

Andres Nascimiento, Andres Nascimiento Osorio, Christopher S. Nance, D Natera De Benito, D Natera de Benito, D. Natera, D. Natera - De Benito, D. Natera - de Benito, D. Natera De Benito, D. Natera de Benito

186

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Institut de Recerca Sant Joan de Déu Universitat de Barcelona

About

Daniel Natera‐de Benito is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, genetics, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	15	529
2	Engineering	2	2	49
3	Health Sciences	2	2	37
4	Public Health	2	2	46
5	Allergy	1	1	31

Daniel Natera‐de Benito

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf, The Lancet Neurology Late-onset Pompe DiseaseAutoimmune DiseaseClinical Infectious DiseaseMedicinePhase 3	2021	169
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, European Journal of Human Genetics	2021	100
Molecular characterization of congenital myasthenic syndromes in Spain Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez, Neuromuscular Disorders Developmental AnomalyMendelian DisorderCongenital Myasthenic SyndromesGenetic DisorderGenetics	2017	77
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio, European Journal of Neurology	2022	63
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain Lidia González‐Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Genes	2020	48
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio, European Journal of Neurology	2022	47
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations Daniel Natera‐de Benito, M Bestué, Juan J. Vílchez, Neuromuscular Disorders Mendelian DisorderRapsn MutationsCongenital Myasthenic SyndromeNeuromuscular PathologyLong-term Follow-up	2015	38
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors Daniel Natera‐de Benito, A. Nascimento, Angela Abicht, Journal of Neurology PharmacologyAcetylcholinesterase InhibitorsKlhl40-related Nemaline MyopathyNeuropathologyMedicine	2016	38
Epilepsy in <i>LAMA2</i>‐related muscular dystrophy: An electro‐clinico‐radiological characterization Daniel Natera‐de Benito, Jordi Muchart, D. Itzep, Epilepsia	2020	38
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations Xavier Suárez‐Calvet, Esther Fernández‐Simón, Daniel Natera‐de Benito, Cell Death and Disease	2023	35

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