Elena Martín‐Hernández

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard et al. · Annals of Neurology · 2019 · 126 citations · Full text

Life Sciences, Molecular Biology, Pharmacotherapy +15

Renal pathology in children with mitochondrial diseases

Elena Martín‐Hernández, M.T. García‐Silva, Julia Vara et al. · Pediatric Nephrology · 2005 · 108 citations

Medicine, Pathology, Pediatrics +14

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 74 citations · Full text

Life Sciences, Genetics, Neurology +17

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández et al. · Mitochondrion · 2010 · 59 citations

Public Health, Neurology, Neuroscience +14