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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 26, 2026
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and EducationShahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, et al.
Neuropathology and Applied Neurobiology|June 9, 2025
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological InsightsIrene Madrigal, Cristina Villar-Vera, Gemma Arca, et al.
Journal of Neurology|January 2, 2021
COVID-19 in children with neuromuscular disordersDaniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, et al.
Epilepsia|April 9, 2020
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterizationDaniel Natera-de Benito, Jordi Muchart, Debora Itzep, et al.
Frontiers in Neurology|June 28, 2021
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in DystrophinopathiesAlicia Alonso-Jiménez, Esther Fernández-Simón, Daniel Natera-de Benito, et al.
Clinical Chemistry|September 27, 2024
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and MedicationHelena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, et al.
American Journal of Medical Genetics. Part A|March 15, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findingsLaura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al.
Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
International Journal of Molecular Sciences|October 14, 2022
Pathological Features in Paediatric Patients with TK2 DeficiencyCristina Jou, Andres Nascimento, Anna Codina, et al.
Annals of Neurology|August 15, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth DiseaseBerta Estévez-Arias, Siiri Sarv, Nathalie Bonello-Palot, et al.
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