Graziella Uziel - Concepedia

Author

Graziella Uziel

Fondazione IRCCS Istituto Neurologico Carlo Besta

Also Known As

G Uziel, G. Uziel, GRAZIELLA UZIEL, Graziella Uziel, M. Aguennouz, Sabrina G. Signorini, Sabrina Signorini, g. Uziel

173

Publications

9.2K

Citations

H-Index

112

Concepts

All Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta Istituti di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital Istituto Giannina Gaslini University of Milan

About

Graziella Uziel is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	51	4.9K
2	Health Sciences	5	5	620
3	Social Sciences	5	5	275
4	Natural Sciences	4	4	470
5	Public Health	2	2	323

Graziella Uziel

Publications

8.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo, The American Journal of Human Genetics Mendelian DisorderDisease MechanismGenetic DisorderGeneticsOxidase Deficiency	1998	525
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gert C. Scheper, Thom van der Klok, Rob J. van Andel, Nature Genetics Amyotrophic Lateral SclerosisMitochondrial FunctionNeurological DisorderMedicinePhysiology	2007	450
Cytochrome <i>c</i> oxidase deficiency in leigh syndrome Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Annals of Neurology	1987	363
Clinical and molecular findings in children with complex I deficiency Marianna Bugiani, Federica Invernizzi, Simona Alberio, Biochimica et Biophysica Acta (BBA) - Bioenergetics Down SyndromePrimary ImmunodeficiencyDevelopmental AnomalyMolecular FindingsAutoimmune Disease	2004	259
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency Tobias B. Haack, Katharina Danhauser, Birgit Haberberger, Nature Genetics Mendelian DisorderIdentifies Acad9 MutationsGenetic DisorderGeneticsMolecular Biology	2010	248
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey Carlo Dionisi‐Vici, Cristiano Rizzo, Alberto Burlina, The Journal of Pediatrics NutritionInborn ErrorsNational Retrospective SurveyItalian Pediatric PopulationInherited Metabolic Disease	2002	245
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy Daniele Ghezzi, P Goffrini, Graziella Uziel, Nature Genetics Sdh-defective Infantile LeukoencephalopathyDisease MechanismGenetic DisorderImmune Cell DevelopmentImmunology	2009	244
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi, The American Journal of Human Genetics MitophagyMitochondrial FunctionGeneticsApoptosisAutophagy	2010	225
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study Christel Depienne, Marianna Bugiani, Céline Dupuits, The Lancet Neurology Neurobiology Of DiseaseNeurophysiologyNeuroanatomyWhite MatterCerebrospinal Fluid	2013	181
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, Human Molecular Genetics	2007	180

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