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Medicina Clinica|August 18, 2024
Adult Pompe disease: Analysis of 13 patientsPaloma Martín-Jiménez, Laura Bermejo-Guerrero, Ana Hernandez-Voth, et al.Genes|July 29, 2023
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive ErythrokeratodermaAdrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez, et al.Journal of Clinical Medicine|May 13, 2023
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial MyopathiesMariana I Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, et al.Journal of Human Genetics|February 15, 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individualsFrancisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, et al.Neuromuscular Disorders : NMD|November 28, 2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patientsLaura Bermejo-Guerrero, Carlos Pablo de Fuenmayor Fernández-de la Hoz, Lidia González-Quereda, et al.Journal of Pediatric Genetics|August 14, 2023
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation SyndromeCarmen Palma Milla, Pérez Mohand Patricia, José M Lezana, et al.Journal of Alzheimer'S Disease : JAD|August 30, 2021
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 GeneGuillermo González-Ortega, Sara Llamas-Velasco, Ana Arteche-López, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 19, 2021
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementiaSara Llamas-Velasco, Ana Arteche-López, Antonio Méndez-Guerrero, et al.Genes|September 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature ReviewMaria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, et al.Clinical Genetics|October 17, 2022
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 geneAna Arteche-López, Almudena Avila-Fernandez, Alejandra Damian, et al.Pageof 2