Teodora Chamova

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 717 citations · Full text

Dmd Mutations, Trial Planning, Engineering +12

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Zaïda Koeks, Catherine L. Bladen, David Salgado et al. · Journal of Neuromuscular Diseases · 2017 · 171 citations · Full text

Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova et al. · Brain · 2016 · 162 citations · Full text

Progressive Spasticity, Neurodegenerative Diseases, Mendelian Disorder +11

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

David Adams, Michael Polydefkis, Alejandra González‐Duarte et al. · The Lancet Neurology · 2020 · 154 citations · Full text

Alzheimer's Disease, Open-label Extension Study, Medicine +5

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza et al. · The American Journal of Human Genetics · 2013 · 137 citations · Full text

Kinesiology, Mendelian Disorder, Genetic Disorder +5