Valerio Carelli - Dissemin

Papers authored by Valerio Carelli

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2002 Valerio Carelli

, Alessandra Baracca, Silvia Barogi, Francesco Pallotti, Valentino Ml, Maria Lucia Valentino, Pasquale Montagna, Massimo Zeviani, Antonella Pini, Giorgio Lenaz, Agostino Baruzzi, Giancarlo Solaini

Biochemical-Clinical Correlation in Patients With Different Loads of the Mitochondrial DNA T8993G Mutation

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Valerio Carelli

Chapter 4 Leber's Hereditary Optic Neuropathy

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Alfredo A. Sadun, B. R. Younge, I. R. Schwab, Valerio Carelli

, Solange R. Salomao, Adriana Berezovsky, Peter Quiros, Federico Sadun, Anna-Maria DeNegri, Rafael Andrade, Stan Schein, A. H. Friedman, A. J. Flach, Rubens Belfort

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

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2001 Steven R. Danielson, Alice Wong, Valerio Carelli

, Andrea Martinuzzi, Anthony H. V. Schapira, Gino A. Cortopassi

Cells Bearing Mutations Causing Leber's Hereditary Optic Neuropathy Are Sensitized to Fas-induced Apoptosis

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M. L. Valentino, R. Liguori, S. Meletti, R. Vetrugno, F. Provini, G. L. Mancardi, P. Montagna, F. Bandini, V. Carelli

, A. Baruzzi

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

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Carelli

, A. A. Sadun

Optic neuropathy in Lhon and Leigh syndrome [4]

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2000 A. Cerullo, C. Marini, S. Cevoli, V. Carelli

, P. Montagna, P. Tinuper

Colpocephaly in two siblings: Further evidence of a genetic transmission

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Patrizia Avoni, Lucia Monari, Valerio Carelli

, Roberta Carcangiu, Piero Barboni, Catia Donati, Lucilla Badiali, Agostino Baruzzi, Pasquale Montagna

Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores

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Alessandra Baracca, Silvia Barogi, Valerio Carelli

, Giorgio Lenaz, Giancarlo Solaini

Catalytic Activities of Mitochondrial ATP Synthase in Patients with Mitochondrial DNA T8993G Mutation in the ATPase 6 Gene Encoding Subunit a

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P. Montagna, P. Cortelli

, S. Iotti, S. Cevoli, Carelli

, R. Lodi, B. Barbiroli

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

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A. A. Sadun, K. W. Wright, P. H. Win, F. N. Ross-Cisneros, S. O. Walker, Kivlin, V. Carelli

, J. T. Flynn

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

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1999 Bruno Barbiroli, Stefano Iotti, Pietro Cortelli

, Paolo Martinelli, Raffaele Lodi, Valerio Carelli

, Pasquale Montagna

Low Brain Intracellular Free Magnesium in Mitochondrial Cytopathies

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V. Carelli

, A. Ghelli, L. Bucchi, P. Montagna, A. M. De Negri, Vincenzo Leuzzi, Carla Carducci, G. Lenaz, E. Lugaresi, M. Degli Esposti

Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

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1998 Valerio Carelli

, Piero Barboni, Annalisa Zacchini, Rita Mancini, Lucia Monari, Sabina Cevoli, Rocco Liguori, Mariachiara Sensi, Elio Lugaresi, Pasquale Montagna

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient

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Paola Pivetti Pezzi, Anna Maria De Negri, Federico Sadun, Valerio Carelli

, Vincenzo Leuzzi

Childhood leber’s hereditary optic neuropathy (ND1/3460) with visual recovery

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R. Rizzi, V. Carelli

, L. Monari, M. Mochi, R. Liguori, M. Sensi, S. Cocozza, A. Filla, P. Montagna

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family

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1997 V. Carelli

, A. Ghelli, M. Ratta, E. Bacchilega, S. Sangiorgi, R. Mancini, V. Leuzzi, P. Cortelli

, P. Montagna, E. Lugaresi, M. Degli Esposti

Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype

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Antonia Parmeggiani, Anna-Elina Lehesjoki, Valerio Carelli

, Annio Posar, Andrea Santi, Margherita Santucci, Giuseppe Gobbi, Antonella Pini, Paola Giovanardi Rossi

Familial Unverricht‐Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study

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A. Torroni, M. Petrozzi, L. D'Urbano, D. Sellitto, M. Zeviani, F. Carrara, C. Carducci, V. Leuzzi, V. Carelli

, P. Barboni, A. De Negri, R. Scozzari

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

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Pietro Cortelli

, Pasquale Montagna, Giulia Pierangeli, Raffaele Lodi, Piero Barboni, Rocco Liguori, Valerio Carelli

, Stefano Iotti, Paolo Zaniol, Elio Lugaresi, Bruno Barbiroli

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study

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Papers authored by Valerio Carelli