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Graziella Uziel
Graziella Uziel
Neuropediatra, Istitituto C.Besta Milano
Verified email at istituto-besta.it
Title
Cited by
Cited by
Year
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ...
The American Journal of Human Genetics 63 (6), 1609-1621, 1998
6371998
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
GC Scheper, T Van Der Klok, RJ Van Andel, CGM Van Berkel, M Sissler, ...
Nature genetics 39 (4), 534-539, 2007
5302007
Cytochrome c oxidase deficiency in leigh syndrome
S DiMauro, S Servidei, M Zeviani, M DiRocco, DC DeVivo, S DiDonato, ...
Annals of neurology 22 (4), 498-506, 1987
4441987
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ...
Nature genetics 42 (12), 1131-1134, 2010
3162010
Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey
C Dionisi-Vici, C Rizzo, AB Burlina, U Caruso, G Sabetta, G Uziel, ...
The Journal of pediatrics 140 (3), 321-329, 2002
3102002
Clinical and molecular findings in children with complex I deficiency
M Bugiani, F Invernizzi, S Alberio, E Briem, E Lamantea, F Carrara, ...
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1659 (2-3), 136-147, 2004
3092004
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ...
Nature genetics 41 (6), 654-656, 2009
2912009
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
D Ghezzi, I Sevrioukova, F Invernizzi, C Lamperti, M Mora, P D'Adamo, ...
The American journal of human Genetics 86 (4), 639-649, 2010
2282010
Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ...
Neurology 80 (22), 2049-2054, 2013
2022013
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
D Ghezzi, P Arzuffi, M Zordan, C Da Re, C Lamperti, C Benna, P D'Adamo, ...
Nature genetics 43 (3), 259-263, 2011
2002011
Epileptic phenotypes associated with mitochondrial disorders
L Canafoglia, S Franceschetti, C Antozzi, F Carrara, L Farina, T Granata, ...
Neurology 56 (10), 1340-1346, 2001
2002001
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
E Fernandez-Vizarra, M Bugiani, P Goffrini, F Carrara, L Farina, ...
Human molecular genetics 16 (10), 1241-1252, 2007
1982007
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ...
The Lancet Neurology 12 (7), 659-668, 2013
1812013
The effect of genotype on the natural history of eIF2B-related leukodystrophies
A Fogli, R Schiffmann, E Bertini, S Ughetto, P Combes, E Eymard-Pierre, ...
Neurology 62 (9), 1509-1517, 2004
1792004
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
G Uziel, I Moroni, E Lamantea, GM Fratta, E Ciceri, F Carrara, M Zeviani
Journal of Neurology, Neurosurgery & Psychiatry 63 (1), 16-22, 1997
1771997
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
F Taroni, E Verderio, S Fiorucci, P Cavadini, G Finocchiaro, G Uziel, ...
Proceedings of the National Academy of Sciences 89 (18), 8429-8433, 1992
1771992
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
JL Orthmann-Murphy, E Salsano, CK Abrams, A Bizzi, G Uziel, ...
Brain 132 (2), 426-438, 2009
1672009
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation
D Rodriguez, F Gauthier, E Bertini, M Bugiani, M Brenner, S N'guyen, ...
The American Journal of Human Genetics 69 (5), 1134-1140, 2001
1662001
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families
C Mariotti, C Gellera, M Rimoldi, R Mineri, G Uziel, G Zorzi, D Pareyson, ...
Neurological sciences 25, 130-137, 2004
1652004
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
E Malfatti, M Bugiani, F Invernizzi, CFM de Souza, L Farina, F Carrara, ...
Brain 130 (7), 1894-1904, 2007
1602007
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