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Eduardo F. Tizzano | doi.page

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Eduardo F. Tizzano

Hebron University(PS)

Publications by Year

Research Areas

Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, Genomics and Rare Diseases, Cystic Fibrosis Research Advances

Most-Cited Works

→ Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy(2017)2,217 cited
→ Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
→ Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases(2018)491 cited
→ A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients(1995)217 cited
→ Neurofilament as a potential biomarker for spinal muscular atrophy(2019)203 cited
→ The clinical landscape for SMA in a new therapeutic era(2017)173 cited
→

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

(2021)

167 cited

→ Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene(2008)165 cited

Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis.(1994)

→ Spinal muscular atrophy: A changing phenotype beyond the clinical trials(2017)135 cited