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Graziella Uziel

Graziella Uziel,Neuroscience,Genetics & Genealogy,Molecular Biology

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Graziella Uziel

Publications: 44 | Citations: 866

Fields: Neuroscience, Genetics & Genealogy, Molecular Biology

Collaborated with 194 co-authors from 1990 to 2009 | Cited by 2811 authors

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Publications (44)

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Identification of novel mutations in five patients with mitochondrial encephalomyopathy (Citations: 11)

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Journal: Biochimica Et Biophysica Acta-bioenergetics - BBA-BIOENERGETICS , vol. 1787, no. 5, pp. 491-501, 2009

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (Citations: 14)

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Journal: Nature Genetics - NAT GENET , vol. 41, no. 6, pp. 654-656, 2009

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations (Citations: 9)

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Published in 2009.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type (Citations: 16)

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Journal: Molecular Genetics and Metabolism - MOL GENET METAB , vol. 93, no. 4, pp. 475-480, 2008

Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging (Citations: 5)

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Journal: American Journal of Neuroradiology - AMER J NEURORADIOL , vol. 29, no. 7, pp. 1270-1275, 2008

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Citations (866 times by 718 publications)

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis (Citations: 2)

Journal: Molecular Psychiatry - MOL PSYCHIATR , vol. 17, no. 3, pp. 290-314, 2012

Mitochondrial Diabetes in Children: Seek and You Will Find It

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Journal: PLOS One , vol. 7, no. 4, 2012

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 20, no. 3, pp. 357-360, 2012

Long-Term Diffusion Impairment of Cerebral White Matter in a Degenerative Disease of the Central and Peripheral Nervous System: Reflection of Chronic Excitotoxicity?

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Journal: Journal of Child Neurology - JCN , vol. 27, no. 2, pp. 229-233, 2012

Cobalamin C defect: natural history, pathophysiology, and treatment (Citations: 2)

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Journal: Journal of Inherited Metabolic Disease - J INHERIT METAB DIS , vol. 34, no. 1, pp. 127-135, 2011

Comments

Co-authors (194)

Journals (25)

Keywords (96)

Graziella Uziel,Neuroscience,Genetics & Genealogy,Molecular Biology

Publications (44)

BibTeX | RIS | RefWorks Download

Identification of novel mutations in five patients with mitochondrial encephalomyopathy (Citations: 11)

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (Citations: 14)

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations (Citations: 9)

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type (Citations: 16)

Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging (Citations: 5)

Citations (866 times by 718 publications)

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis (Citations: 2)

Mitochondrial Diabetes in Children: Seek and You Will Find It

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Long-Term Diffusion Impairment of Cerebral White Matter in a Degenerative Disease of the Central and Peripheral Nervous System: Reflection of Chronic Excitotoxicity?

Cobalamin C defect: natural history, pathophysiology, and treatment (Citations: 2)


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Co-authors (194)

Journals (25)

Keywords (96)

Graziella Uziel,Neuroscience,Genetics & Genealogy,Molecular Biology

Publications (44) BibTeX | RIS | RefWorks Download

Identification of novel mutations in five patients with mitochondrial encephalomyopathy (Citations: 11)

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (Citations: 14)

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations (Citations: 9)

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type (Citations: 16)

Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging (Citations: 5)

Citations (866 times by 718 publications)

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis (Citations: 2)

Mitochondrial Diabetes in Children: Seek and You Will Find It

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Long-Term Diffusion Impairment of Cerebral White Matter in a Degenerative Disease of the Central and Peripheral Nervous System: Reflection of Chronic Excitotoxicity?

Cobalamin C defect: natural history, pathophysiology, and treatment (Citations: 2)

Publications (44)

BibTeX | RIS | RefWorks Download