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Laura Carrera‐García

Observed names: L. Carrera-Garcia, L. Carrera-García, Laura Carrera, Laura Carrera Garcia, Laura Carrera García, Laura Carrera-García, Laura Carrera‐Garcia
Observed institutions: Institució Catalana de Recerca i Estudis Avançats, Universitat Autònoma de Barcelona, Hospital Sant Joan de Déu Barcelona, Universidad de Oviedo, Instituto de Salud Carlos III, Hospital de Sant Pau, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Hospital Universitario Central de Asturias, Centre for the Observation and Modelling of Earthquakes, Volcanoes and Tectonics, ERN-RND, Institut de Recerca Sant Joan de Déu, Servicio de Salud del Principado de Asturias, Universitat de Barcelona, University of Pennsylvania
ORCID: 0000-0003-4762-7591
Observed ORCID: 0000-0003-4762-7591
OpenAlex ID: A5000200466
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
2021 · Jordi Diaz-Manera, Priya S Kishnani, et al. · The Lancet Neurology · 187
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Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
2023 · Priya S. Kishnani, Jordi Diaz-Manera, et al. · JAMA Neurology · 58
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Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization
2020 · Daniel Natera‐de Benito, Jordi Muchart, et al. · Epilepsia · 35
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
2024 · Francesco Muntoni, Barry J. Byrne, et al. · Neurology and Therapy · 26
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Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
2021 · Daniel Natera-de Benito, A. Reghan Foley, et al. · Neurology · 25
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
2022 · Jordi Pijuan, Lara Cantarero, et al. · Frontiers in Neuroscience · 24
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Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
2020 · Selena Trifunov, Daniel Natera-de Benito, et al. · Frontiers in Neurology · 24
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The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
2020 · Daniel Natera-de Benito, Carlos Ortez, et al. · Pediatric Neurology · 23
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Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
2021 · Laura Carrera-García, Jordi Muchart, et al. · European Journal of Paediatric Neurology · 22
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
2019 · A.L. Frongia, D. Natera-de Benito, et al. · Neuromuscular Disorders · 21
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child
2019 · Laura Carrera-García, Daniel Natera-de Benito, et al. · Neurology Neuroimmunology & Neuroinflammation · 18
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Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
2023 · Sergi Cesar, Oscar Campuzano, et al. · Frontiers in Cell and Developmental Biology · 17
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
2021 · Antonio F. Martínez-Monseny, Albert Edo, et al. · International Journal of Molecular Sciences · 16
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
2023 · Andres Nascimento, Christine C. Bruels, et al. · Acta Neuropathologica · 15
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CHRNG ‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
2019 · Laura Carrera‐García, Daniel Natera‐de Benito, et al. · American Journal of Medical Genetics Part A · 15
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
2024 · Berta Estévez-Arias, Leslie Matalonga, et al. · European Journal of Human Genetics · 14
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
2023 · Sergi Cesar, Monica Coll, et al. · Frontiers in Genetics · 12
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Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
2023 · Daniel Natera‐de Benito, Jonathan Olival, et al. · Annals of Clinical and Translational Neurology · 12
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Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
2023 · Selena Trifunov, Daniel Natera-de Benito, et al. · Journal of Neuromuscular Diseases · 11
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Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
2021 · Daniel Natera-de Benito, Abel Sola, et al. · Pediatric Neurology · 10
Síndrome de Wolf-Hirschhorn. Descripción de una cohorte española de 51 casos y revisión de la bibliografía
2017 · Raquel Blanco Lago, Ignacio Málaga Diéguez, et al. · Revista de Neurología · 10
Pathological Features in Paediatric Patients with TK2 Deficiency
2022 · Cristina Jou, Andres Nascimento, et al. · International Journal of Molecular Sciences · 9
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Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
2022 · Berta Estévez-Arias, Laura Carrera-García, et al. · Journal of Translational Genetics and Genomics · 8
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Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation
2017 · Laura Carrera‐García, Maximiliano Francisco Rivas‐Crespo, et al. · American Journal of Medical Genetics Part A · 8
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
2025 · Florencia Pérez‐Vidarte, Berta Estévez‐Arias, et al. · Annals of Clinical and Translational Neurology · 7
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Works count: 72
Citation count: 677
H-index: 15
I10-index: 21
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