Francesco Danilo Tiziano

Author

Università Cattolica del Sacro Cuore ORCID

Also Known As

D. Di Giuda, D. Tiziano, D.F. Tiziano, Danilo Francesco Tiziano, Danilo Tiziano, F D Tiziano, F D. Tiziano, F Danilo Tiziano, F Tiziano, F. D. Tiziano

111

Publications

6.7K

Citations

H-Index

Concepts

All Affiliations

Università Cattolica del Sacro Cuore Bambino Gesù Children's Hospital Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini Agostino Gemelli University Polyclinic

About

Francesco Danilo Tiziano is an author at Università Cattolica del Sacro Cuore specializing in medicine, neurology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	24	3.1K
2	Health Sciences	4	4	467
3	Natural Sciences	2	2	152
4	Public Health	2	2	83
5	Engineering	1	1	52

Francesco Danilo Tiziano

Publications

4.7K

Citations

H-Index

Page 1

	Year	Citations
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits Hélène Puccio, Delphine Simon, Mireille Cossée, Nature Genetics Intramitochondrial Iron DepositsSensory Nerve DefectIron MetabolismPhysiologyMouse Models	2001	729
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Nature Genetics Rare DiseasesMendelian DisorderGenetic DisorderGeneticsPathology	2012	417
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy Catia Andreassi, Carla Angelozzi, Francesco Danilo Tiziano, European Journal of Human Genetics Muscle FunctionMolecular PhysiologySkeletal MusclePhysiologyDegenerative Disease	2003	257
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders Luigi Boccuto, Maria Lauri, Sara M. Sarasua, European Journal of Human Genetics PsychiatryAutism Spectrum DisordersSyndromic AutismGenetic DisorderPsychiatric Genetics	2012	243
Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy Carmen Cifuentes-Díaz, Tony Frugier, Francesco Danilo Tiziano, The Journal of Cell Biology Skeletal Muscle LeadsMuscle FunctionPathologyCytoskeletonSevere Muscular Dystrophy	2001	233
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy Eugenio Mercuri, Enrico Bertini, Sonia Messina, Neurology	2006	169
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Christina Brahe, Tiziana Vitali, Francesco Danilo Tiziano, European Journal of Human Genetics Molecular PhysiologyGeneticsPhysiologyDegenerative DiseaseGene Characterization	2004	157
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study Thomas O. Crawford, Sergey Paushkin, Dione Kobayashi, PLoS ONE	2012	155
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Orphanet Journal of Rare Diseases	2015	152
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, The American Journal of Human Genetics Neurological DisorderGenetic DisorderGeneticsDegenerative DiseaseMotor Disorder	2012	151

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