Eduardo F. Tizzano - Concepedia

Author

Eduardo F. Tizzano

Also Known As

Bru Cormand, E F Tizzano, E Tizzano, E. F. TIZZANO, E. F. Tizzano, E. Tizzano, E.F. Tizzano, Eduardo F Tizzano, Eduardo F. Tizzano, Eduardo Fidel Tizzano

258

Publications

9.2K

Citations

H-Index

124

Concepts

All Affiliations

Hospital de Sant Pau Centre for Biomedical Network Research on Rare Diseases Vall d'Hebron Hospital Universitari Vall d'Hebron Institut de Recerca Instituto de Salud Carlos III

About

Eduardo F. Tizzano is an author at Hospital de Sant Pau specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	40	2.8K
2	Public Health	7	7	709
3	Health Sciences	4	4	234
4	Engineering	3	3	110
5	Natural Sciences	1	1	66

Eduardo F. Tizzano

Publications

6.6K

Citations

H-Index

Page 1

	Year	Citations
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy Richard S. Finkel, Eugenio Mercuri, Basil T. Darras, New England Journal of Medicine	2017	2.2K
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases Maite Calucho, Sara Bernal, Laura Alías, Neuromuscular Disorders Sma TypeClinical EpidemiologyGenetic EpidemiologyUnrelated Spanish PatientsPublic Health	2018	486
A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano, Nature Genetics GeneticsFrame–shift DeletionDegenerative DiseaseNeuroscienceNeurology	1995	217
Neurofilament as a potential biomarker for spinal muscular atrophy Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Annals of Clinical and Translational Neurology	2019	200
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Neuromuscular Disorders Early DiagnosisRare DiseasesNewborn ScreeningNeonatal GenomicsNeonatology	2021	164
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene Laura Alías, Sara Bernal, Pablo Fuentes‐Prior, Human Genetics Somatic VariantMendelian DisorderGenetic DisorderMedicineGenetics	2008	163
Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis. Eduardo F. Tizzano, Michael Silver, David Chitayat, PubMed	1994	147
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues Eduardo F. Tizzano, David Chitayat, Manuel Buchwald Human Molecular Genetics Inflammatory Lung DiseaseCell-specific LocalizationPathologyOrgan DevelopmentCellular Physiology	1993	124
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain Julio López‐Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Orphanet Journal of Rare Diseases	2017	118
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings Ivon Cuscó, M. J. Barceló, Ricard Rojas‐García, Journal of Neurology Smn2 Copy NumberGenetic DisorderGeneticsGenetic EpidemiologyDegenerative Disease	2005	111

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