Clinical and molecular features of mitochondrial DNA depletion syndromes
Spinazzola, A, Invernizzi, F, Carrara, F, Lamantea, E, Donati, A, DiRocco, M, Giordano, I, Meznaric-Petrusa, M, Baruffini, E, Ferrero, I, Zeviani, M
Published in Journal of inherited metabolic disease (01.04.2009)
Published in Journal of inherited metabolic disease (01.04.2009)
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Conference Proceeding
Clinical and molecular findings in children with complex I deficiency
Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M.A., Uziel, G., Zeviani, M.
Published in Biochimica et biophysica acta (06.12.2004)
Published in Biochimica et biophysica acta (06.12.2004)
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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B
Published in Balkan journal of medical genetics (01.11.2021)
Published in Balkan journal of medical genetics (01.11.2021)
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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy
Bugiani, M, Al Shahwan, S, Lamantea, E, Bizzi, A, Bakhsh, E, Moroni, I, Balestrini, M R, Uziel, G, Zeviani, M
Published in Neurology (25.07.2006)
Published in Neurology (25.07.2006)
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Mitochondrial Diseases in Childhood
Ardissone, A, Lamantea, E, Invernizzi, F, Zeviani, M, Genitrini, S, Moroni, I, Uziel, G
Published in Current molecular medicine (01.01.2014)
Published in Current molecular medicine (01.01.2014)
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Journal Article
ETHE1 mutations are specific to ethylmalonic encephalopathy
Tiranti, V, Briem, E, Lamantea, E, Mineri, R, Papaleo, E, Gioia, L De, Forlani, F, Rinaldo, P, Dickson, P, Abu-Libdeh, B, Cindro-Heberle, L, Owaidha, M, Jack, R M, Christensen, E, Burlina, A, Zeviani, M
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Epileptic phenotypes associated with mitochondrial disorders
Canafoglia, L, Franceschetti, S, Antozzi, C, Carrara, F, Farina, L, Granata, T, Lamantea, E, Savoiardo, M, Uziel, G, Villani, F, Zeviani, M, Avanzini, G
Published in Neurology (22.05.2001)
Published in Neurology (22.05.2001)
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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
Uziel, G, Moroni, I, Lamantea, E, Fratta, G M, Ciceri, E, Carrara, F, Zeviani, M
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1997)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1997)
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Conference Proceeding
Cerebral white matter involvement in children with mitochondrial encephalopathies
Moroni, I, Bugiani, M, Bizzi, A, Castelli, G, Lamantea, E, Uziel, G
Published in Neuropediatrics (01.04.2002)
Published in Neuropediatrics (01.04.2002)
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Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
Corona, P., Lamantea, E., Greco, M., Carrara, F., Agostino, A., Guidetti, D., Dotti, M. T., Mariotti, C., Zeviani, M.
Published in Annals of neurology (01.01.2002)
Published in Annals of neurology (01.01.2002)
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Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
Verderio, E, Cavadini, P, Montermini, L, Wang, H, Lamantea, E, Finocchiaro, G, DiDonato, S, Gellera, C, Taroni, F
Published in Human molecular genetics (01.01.1995)
Published in Human molecular genetics (01.01.1995)
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Molecular Characterization of Inherited Carnitine Palmitoyltransferase II Deficiency
Taroni, Franco, Verderio, Elisabetta, Fiorucci, Stefania, Cavadini, Patrizia, Finocchiaro, Gaetano, Uziel, Graziella, Lamantea, Eleonora, Gellera, Cinzia, DiDonato, Stefano
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.1992)
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A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome
Munaro, Monica, Tiranti, Valeria, Sandonà, Doriana, Lamantea, Eleonora, Uziel, Graziella, Bisson, Roberto, Zeviani, Massimo
Published in Human molecular genetics (01.02.1997)
Published in Human molecular genetics (01.02.1997)
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Leigh syndrome transmitted by uniparental disomy of chromosome 9
TIRANTI, VALERIA, LAMANTEA, ELEONORA, UZIEL, GRAZIELLA, ZEVIANI, MASSIMO, GASPARINI, PAOLO, MARZELLA, ROSALIA, ROCCHI, MARIANO, FRIED, MIKE
Published in Journal of medical genetics (01.12.1999)
Published in Journal of medical genetics (01.12.1999)
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Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency
PARINI, R, MENNI, F, GARAVAGLIA, B, FESSLOVA, V, MELOTTI, D, MASSONE, M. L, LAMANTEA, E, RIMOLDI, M, VIZZIELLO, P, GATTI, R
Published in European journal of pediatrics (01.12.1998)
Published in European journal of pediatrics (01.12.1998)
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Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
RIBES, A, RIUDOR, E, ROIG, M, GARAVAGLIA, B, MARTINEZ, G, ARRANZ, A, INVERNIZZI, F, BRIONES, P, LAMANTEA, E, SENTIS, M, BARCELO, A
Published in European journal of pediatrics (01.04.1998)
Published in European journal of pediatrics (01.04.1998)
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Neuronal ceroid lipofuscinosis: detection of atypical forms
Nardocci, N, Morbin, M, Bugiani, M, Lamantea, E, Bugiani, O
Published in Neurological sciences (2000)
Published in Neurological sciences (2000)
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LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Dallabona, Cristina, Abbink, Truus E M, Carrozzo, Rosalba, Torraco, Alessandra, Legati, Andrea, van Berkel, Carola G M, Niceta, Marcello, Langella, Tiziana, Verrigni, Daniela, Rizza, Teresa, Diodato, Daria, Piemonte, Fiorella, Lamantea, Eleonora, Fang, Mingyan, Zhang, Jianguo, Martinelli, Diego, Bevivino, Elsa, Dionisi-Vici, Carlo, Vanderver, Adeline, Philip, Sunny G, Kurian, Manju A, Verma, Ishwar C, Bijarnia-Mahay, Sunita, Jacinto, Sandra, Furtado, Fatima, Accorsi, Patrizia, Ardissone, Anna, Moroni, Isabella, Ferrero, Ileana, Tartaglia, Marco, Goffrini, Paola, Ghezzi, Daniele, van der Knaap, Marjo S, Bertini, Enrico
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Neuronal ceroid lipofuscinoses: detection of atypical forms
Nardocci, N, Morbin, M, Bugiani, M, Lamantea, E, Bugiani, O
Published in Neurological sciences (01.09.2000)
Published in Neurological sciences (01.09.2000)
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