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Eugenio Zapata‐Aldana

Observed names: E Zapata-Aldana, E. Zapata Aldana, E. Zapata-Aldana, Eugenio Zapata, Eugenio Zapata Aldana, Eugenio Zapata-Aldana
Observed institutions: Universitat Autònoma de Barcelona, Western University, Cincinnati Children's Hospital Medical Center, Houston Methodist, Inserm, Virginia Commonwealth University, London Health Sciences Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Myotonic Dystrophy Foundation, Centro Clinico Nemo, Corporació Sanitària Parc Taulí, Western University, Hospital Civil de Guadalajara, Institute of Research and Innovation Parc Tauli, Sistemas Genómicos, Children's Hospital of Western Ontario, Université Paris Descartes, University of Manitoba, Newcastle University, Stanford University
ORCID: 0000-0002-2636-8941
Observed ORCID: 0000-0002-2636-8941
OpenAlex ID: A5060308129
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
2019 · Nicholas E. Johnson, Eugenio Zapata Aldana, et al. · Neurology Clinical Practice · 68
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Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review
2016 · Basmah El-Aloul, Luis Altamirano-Diaz, et al. · Neuromuscular Disorders · 29
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
2018 · Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, et al. · Journal of Neuromuscular Diseases · 28
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3
2018 · Eugenio Zapata-Aldana, David Dongkyung Kim, et al. · European Journal of Medical Genetics · 23
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1
2015 · J. Román Corona-Rivera, Ernesto Barrios-Prieto, et al. · European Journal of Medical Genetics · 17
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience
2020 · So Lee, Natalya Karp, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 12
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Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
2019 · Eugenio Zapata‐Aldana, Sulaiman B. Al‐Mobarak, et al. · American Journal of Medical Genetics Part A · 12
Associated congenital anomalies in infants with isolated gastroschisis: A single‐institutional experience
2015 · Jorge Román Corona‐Rivera, Rafael Nieto‐García, et al. · American Journal of Medical Genetics Part A · 9
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”
2022 · Benjamín Cárcamo, Barbara Masotto, et al. · European Journal of Medical Genetics · 7
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review
2019 · Christian Peña-Padilla, Lorena Viramontes-Aguilar, et al. · Fetal and Pediatric Pathology · 5
Oblique facial clefts in Johanson–Blizzard syndrome
2016 · Jorge Román Corona‐Rivera, Eugenio Zapata‐Aldana, et al. · American Journal of Medical Genetics Part A · 4
P.218Utility based health related quality of life in children and adolescents with spinal muscular atrophy
2019 · D. Love, R. Hicks, et al. · Neuromuscular Disorders · 3
Body composition in patients with congenital myotonic dystrophy
2019 · Delia Ceballos‐Sáenz, Eugenio Zapata‐Aldana, et al. · Muscle & Nerve · 3
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
2019 · Madhavi Prasad, Michael Glueck, et al. · Journal of Neuromuscular Diseases · 2
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
2019 · Eugenio Zapata-Aldana, Hugh J McMillan, et al. · Paediatrics & Child Health · 2
Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs
2025 · Marta Sevilla-Porras, Esther Nieto-Molina, et al. · medRxiv · 1
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Duchenne Muscular Dystrophy Fatigue Trajectories
2023 · Yi Sally Wei, Mona Hnaini, et al. · Neuropediatrics · 1
Pigmentation abnormalities in Coffin‐Siris syndrome
2023 · Eugenio Zapata‐Aldana, Delia Ceballos‐Sáenz, et al. · Clinical Genetics · 1
Predictors of ambulation in patients with Duchene muscular dystrophy
2017 · E. Zapata Aldana, N. Eltayeb, et al. · Neuromuscular Disorders · 1
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine
2026 · Eugenio Zapata‐Aldana, Joan Petanas Argemi, et al. · American Journal of Medical Genetics Part A
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Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum
2020 · Mahmoud Almutadares, Jane Evans, et al. · Clinical Dysmorphology
Next Generation Sequencing and Experimental Myology
2018 · E. Zapata-Aldana, C. Campbell · Neuromuscular Disorders
P.077 Utility of a next generation sequencing in the diagnosis of Congenital Myasthenic Syndromes
2018 · E Zapata-Aldana, CE Nguyen, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
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B.07 Review of patients with Spinal Muscular Atrophy treated with Nusinersen in Ontario
2018 · S Remtulla, E Zapata-Aldana, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
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A.01 The relationship between fatigue and health-related quality of life in a clinical trial population of Duchenne muscular dystrophy patients
2017 · Y Wei, B El-Aloul, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
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Works count: 27
Citation count: 228
H-index: 8
I10-index: 7
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