Concepedia

Marcos Madruga‐Garrido

MM

14

Publications

822

Citations

13

H-Index

2009

Active since

Affiliations

Hospital Universitario Virgen del Rocío(Current)

Instituto de Biomedicina de Sevilla

Universidad de Sevilla

Centre for Biomedical Network Research on Rare Diseases

Hospital Sant Joan de Déu Barcelona

Marcos Madruga‐Garrido is an author at Hospital Universitario Virgen del Rocío specializing in medicine, psychiatry, and neurogenetics.

ORCID

Top concepts

Publications per year

2009–2022

14

Publications

14

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

A. Jeremy Willsey, Thomas Fernandez, Dongmei Yu et al. · Neuron · 2017 · 193 citations · Full text

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Marco Henneke, Simone Diekmann, Andreas Ohlenbusch et al. · Nature Genetics · 2009 · 151 citations · Full text

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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard et al. · Annals of Neurology · 2019 · 113 citations · Full text

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone, Robert W. Taylor, A. Nascimento et al. · Journal of Medical Genetics · 2018 · 101 citations · Full text

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Lidia González‐Quereda, Maria José Rodríguez, Jordi Díaz‐Manera et al. · Genes · 2020 · 48 citations · Full text

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