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Graziella Uziel

Graziella Uziel,Università degli Studi di Milano,Genetics & Genealogy,Neuroscience,Pathology

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Graziella Uziel

Università degli Studi di Milano

Publications: 37 | Citations: 268

Fields: Genetics & Genealogy, Neuroscience, Pathology

Collaborated with 294 co-authors from 1997 to 2012 | Cited by 1276 authors

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Publications (37)

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

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Journal: PLOS One , vol. 7, no. 7, 2012

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies (Citations: 1)

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 3, pp. 259-263, 2011

Infantile mitochondrial encephalopathy (Citations: 1)

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Journal: Seminars in Fetal & Neonatal Medicine - SEMIN FETAL NEONATAL MED , vol. 16, no. 4, pp. 205-215, 2011

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1 -related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

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Journal: Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS , vol. 6, no. 1, pp. 1-13, 2011

Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

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Journal: Neurological Sciences - NEUROL SCI , vol. 32, no. 3, pp. 473-477, 2011

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Citations (268 times by 249 publications)

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

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Journal: PLOS Biology - PLOS BIOL , vol. 10, no. 3, 2012

In vivo B-cell depletion with rituximab for alternative donor hemopoietic SCT

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Journal: Bone Marrow Transplantation - BONE MARROW TRANSPLANT , vol. 47, no. 1, pp. 101-106, 2012

Metabolite Profiles Reveal Energy Failure and Impaired Beta-Oxidation in Liver of Mice with Complex III Deficiency Due to a BCS1L Mutation

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Journal: PLOS One , vol. 7, no. 7, 2012

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

Journal: Journal of Inherited Metabolic Disease - J INHERIT METAB DIS , vol. 34, no. 2, pp. 283-292, 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome (Citations: 2)

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Journal: Neurogenetics , vol. 12, no. 1, pp. 1-8, 2011

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Co-authors (294)

Journals (27)

Keywords (89)

Graziella Uziel,Università degli Studi di Milano,Genetics & Genealogy,Neuroscience,Pathology

Publications (37)

BibTeX | RIS | RefWorks Download

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies (Citations: 1)

Infantile mitochondrial encephalopathy (Citations: 1)

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1 -related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

Citations (268 times by 249 publications)

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

In vivo B-cell depletion with rituximab for alternative donor hemopoietic SCT

Metabolite Profiles Reveal Energy Failure and Impaired Beta-Oxidation in Liver of Mice with Complex III Deficiency Due to a BCS1L Mutation

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

A FOXG1 mutation in a boy with congenital variant of Rett syndrome (Citations: 2)


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Graziella Uziel,Università degli Studi di Milano,Genetics & Genealogy,Neuroscience,Pathology

Publications (37) BibTeX | RIS | RefWorks Download

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies (Citations: 1)

Infantile mitochondrial encephalopathy (Citations: 1)

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

A FOXG1 mutation in a boy with congenital variant of Rett syndrome (Citations: 2)

Publications (37)

BibTeX | RIS | RefWorks Download