Andrea Martinuzzi
Andrea Martinuzzi
Responsabile Clinico Scientifico, Polo Regionale Veneto IRCCS "E. Medea"
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MELAS: clinical features, biochemistry, and molecular genetics
E Ciafaloni, E Ricci, S Shanske, CT Moraes, G Silvestri, M Hirano, ...
Annals of Neurology: Official Journal of the American Neurological …, 1992
5421992
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and …
A Chomyn, A Martinuzzi, M Yoneda, A Daga, O Hurko, D Johns, ST Lai, ...
Proceedings of the National Academy of Sciences 89 (10), 4221-4225, 1992
5241992
Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability
RJ Simeonsson, M Leonardi, D Lollar, E Bjorck-Akesson, J Hollenweger, ...
Disability and rehabilitation 25 (11-12), 602-610, 2003
4432003
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin
G Orso, D Pendin, S Liu, J Tosetto, TJ Moss, JE Faust, M Micaroni, ...
Nature 460 (7258), 978-983, 2009
3602009
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
M Yoneda, A Chomyn, A Martinuzzi, O Hurko, G Attardi
Proceedings of the National Academy of Sciences 89 (23), 11164-11168, 1992
3071992
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage
C Perier, K Tieu, C Guégan, C Caspersen, V Jackson-Lewis, V Carelli, ...
Proceedings of the National Academy of Sciences 102 (52), 19126-19131, 2005
2922005
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
J Guy, X Qi, F Pallotti, EA Schon, G Manfredi, V Carelli, A Martinuzzi, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
2582002
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III
E Bonora, AM Porcelli, G Gasparre, A Biondi, A Ghelli, V Carelli, ...
Cancer research 66 (12), 6087-6096, 2006
2002006
Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy
C Giordano, M Montopoli, E Perli, M Orlandi, M Fantin, FN Ross-Cisneros, ...
Brain 134 (1), 220-234, 2011
1882011
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
A Ghelli, C Zanna, AM Porcelli, AHV Schapira, A Martinuzzi, V Carelli, ...
Journal of Biological Chemistry 278 (6), 4145-4150, 2003
1812003
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
R Pello, MA Martín, V Carelli, LG Nijtmans, A Achilli, M Pala, A Torroni, ...
Human molecular genetics 17 (24), 4001-4011, 2008
1592008
Prevalence and correlates of mental disorders among adolescents in Italy: the PrISMA study
A Frigerio, P Rucci, R Goodman, M Ammaniti, O Carlet, P Cavolina, ...
European child & adolescent psychiatry 18 (4), 217-226, 2009
1572009
Severe impairment of complex I–driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
A Baracca, G Solaini, G Sgarbi, G Lenaz, A Baruzzi, AHV Schapira, ...
Archives of neurology 62 (5), 730-736, 2005
1542005
Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis
SR Danielson, A Wong, V Carelli, A Martinuzzi, AHV Schapira, ...
Journal of Biological Chemistry 277 (8), 5810-5815, 2002
1512002
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
C Bruno, A Martinuzzi, Y Tang, AL Andreu, F Pallotti, E Bonilla, S Shanske, ...
The American Journal of Human Genetics 65 (3), 611-620, 1999
1411999
Caspase-independent death of Leber’s hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G
C Zanna, A Ghelli, AM Porcelli, A Martinuzzi, V Carelli, M Rugolo
Apoptosis 10 (5), 997-1007, 2005
1362005
International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilities
M Battaglia, E Russo, A Bolla, A Chiusso, S Bertelli, A Pellegri, G Borri, ...
Developmental Medicine & Child Neurology 46 (2), 98-106, 2004
1332004
MtDNA Mutations Associated with Leber′ s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
L Vergani, A Martinuzzi, V Carelli, P Cortelli, P Montagna, G Schievano, ...
Biochemical and biophysical research communications 210 (3), 880-888, 1995
1311995
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial
N Bresolin, C Doriguzzi, C Ponzetto, C Angelini, I Moroni, E Castelli, ...
Journal of the neurological sciences 100 (1-2), 70-78, 1990
1301990
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines
S Beretta, L Mattavelli, G Sala, L Tremolizzo, AHV Schapira, A Martinuzzi, ...
Brain 127 (10), 2183-2192, 2004
1242004
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20