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Biorxiv : the Preprint Server for Biology|June 21, 2024
Effects of HMGCR deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.The FEBS Journal|January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.Frontiers in Genetics|April 10, 2023
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translationSergi Cesar, Monica Coll, Victoria Fiol, et al.European Journal of Human Genetics : EJHG|September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesBerta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.Annals of Clinical and Translational Neurology|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle DiseasesAlba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito, et al.Journal of Neurology|April 9, 2025
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapiesLaura Carrera-García, Jessica Expósito-Escudero, Nancy Carolina Ñungo Garzón, et al.Neurology|January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related DystrophiesDaniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.Pageof 7