Carmen Espinós Armero
TEAM LEADER
Molecular Basis of Human Pathologies
Centro de Investigacion Principe Felipe
Spain
Biography
Ms. Carmen Espinós Armero, PhD in Biological Sciences, Miguel Researcher Servet and Senior Researcher in the Center's Rare and Genetic Diseases Program Prince Philip of Valencia Research (CIPF), and Mr. Francesc Palau Martínez, Doctor of Medicine, Research Professor of the Council Superior of Scientific Investigations (CSIC) and Visiting Professor of Pediatrics, Universitat de Barcelona, ​​Head of the Service of Genetic and Molecular Medicine of the Hospital Sant Joan de Déu de Barcelona (HSJD), Director of the Pediatric Institute of Diseases Rare (IPER) of HSJD and Scientific Director of the Center for Biomedical Research in Network Of Rare Diseases (CIBERER),
Research Interest
Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders.
Publications
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Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
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Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
