基本信息
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Bio
Eduardo F. Tizzano is a Pediatrician and Medical Geneticist and is Director of the Department of Clinical and Molecular Genetics at the Vall d’Hebron Hospital in Barcelona, Spain. PhD in Medicine, he is also Director of a Master Program on Medical Genetics in the Autonomous University of Barcelona (UAB).
Professor Tizzano’s main areas of research include the characterization of spinal muscular atrophy (SMA) during human development, genotype–phenotype correlations, identification of modifier genes, and validation of biological markers, and he has published extensively in both these areas and on other genetic disorders. He is highly active in academic and research activities at national and international levels, collaborating with different neuromuscular and genetic centers, and participates as principal investigator and collaborator in clinical trials.
Research Interests
Papers共 297 篇Author StatisticsCo-AuthorSimilar Experts
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M. M. Zwartkruis,M. G. Elferink, D. Gommers,I. Signoria,L. Blasco-Pérez,M. Costa-Roger, J. van der Sel,I. J. Renkens, J. W. Green, J. V. Kortooms,C. Vermeulen,R. Straver,H. W. M. van Deutekom,J. H. Veldink,F. Asselman,E. F. Tizzano,R. I. Wadman,W. L. van der Pol,G. W. van Haaften,E. J. N. Groen
Genome Medicineno. 1 (2025): 1-18
Brain a journal of neurology (2025)
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro
Nature geneticsno. 6 (2025): 1367-1373
Laura Trujillano,Irene Valenzuela,Mar Costa-Roger,Ivon Cusco,Paula Fernandez-Alvarez,Anna Cueto-Gonzalez,Amaia Lasa-Aranzasti, Barbara Masotto,Anna Abuli,Marta Codina-Sola,Miguel del Campo, Juan Antonio Ruiz Moreno, Cristina Pardo Dominguez,Carmen Palma Milla,Ruben Perez de la Fuente,Juan Francisco Quesada-Espinosa,Noemi Nunez-Enamorado,Blanca Gener,Maria Juliana Ballesta-Martinez,Alejandro J. Brea-Fernandez,Montse Fernandez-Prieto,Juan Pablo Trujillo-Quintero,Anna Ruiz,Fernando Santos-Simarro,Monica Rosello,Carmen Orellana,Francisco Martinez,Antonio F. Martinez-Monseny,Didac Casas-Alba,Mercedes Serrano,Maria Palomares-Bralo, Emi Rikeros-Orozco, Maria angeles Gomez-Cano,Pilar Tirado-Requero,Juan Pie Juste,Feliciano J. Ramos,Elena Garcia-Arumi,Eduardo F. Tizzano
CLINICAL GENETICS (2025)
Janbernd Kirschner,Guenther Bernert,Nina Butoianu,Liesbeth De Waele,Aviva Fattal-Valevski,Jana Haberlova,Teresa Moreno,Andrea Klein,Anna Kostera-Pruszczyk,Eugenio Mercuri,Susana Quijano-Roy,Thomas Sejersen,Eduardo F. Tizzano,W. Ludo van der Pol,Sean Wallace,Dimitrios Zafeiriou,Andreas Ziegler,Francesco Muntoni,Laurent Servais
European Journal of Paediatric Neurology (2024): 73-78
NEUROMUSCULAR DISORDERS (2024): 114-122
NEUROMUSCULAR DISORDERS (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 541-542
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L. Puig Cruz, K. Aragón Gawinska, M. Fernández García, A. Nacimiento Osorio,C. Paradas, J. Sotoca,M. Povedano,A. Moreno Escribano, M. Henao, C. Gil Polo,R. Rojas García, M. Gómez Caravaca,M. Grimalt,R. Fernández Torron,I. Jericó,Ó. García Campos, L. Toledo Bravo de Laguna, D. Hervás,E. Tizzano,J. Vázquez Costa
Neurology Perspectives (2024): 248
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Author Statistics
#Papers: 297
#Citation: 5666
H-Index: 34
G-Index: 69
Sociability: 8
Diversity: 3
Activity: 37
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