Sfoglia per Autore
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
2004 B. Garavaglia, F. Invernizzi, M.L.A. Carbone, V. Viscardi, F. Saracino, D. Ghezzi, M. Zeviani, G. Zorzi, N. Nardocci
Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease
2004 A. Varrone, M.T. Pellecchia, M. Amboni, V. Sansone, E. Salvatore, D. Ghezzi, B. Garavaglia, A. Brice, A. Brunetti, V. Bonavita, G. De Michele, M. Salvatore, S. Pappata, P. Barone
High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease
2005 L.M.A. Romito, M.F. Contarino, D. Ghezzi, A. Franzini, B. Garavaglia, A. Albanese
Mitochondrial DNA haplogroup K is associated with lower risk of Parkinson's disease in Italians
2005 D. Ghezzi, C. Marelli, A. Achilli, S. Goldwurm, G. Pezzoli, P. Barone, P. Stanzione, A. Bentivoglio, U. Bonuccelli, G. Abruzzese, P. Cortelli, P. Martinelli, C. Ferrarese, S. Sangiorgi, B. Garavaglia, V. Carelli, A. Torroni, A. Albanese, M. Zeviani
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
2006 R. Marongiu, D. Ghezzi, T. Ialongo, F. Soleti, A. Elia, S. Cavone, A. Albanese, M.C. Altavista, P. Barone, L. Brusa, P. Cortelli, L. Petrozzi, C. Scaglione, P. Stanzione, M. Tinazzi, M. Zeviani, B. Dallapiccola, A.R. Bentivoglio, E.M. Valente, B. Garavaglia, E. Conca, A. Fasano, C. Marelli, P. Martinelli, G. Nordera, M.T. Pellecchia
POLG1 in idiopathic Parkinson disease
2006 W. Tiangyou, G. Hudson, D. Ghezzi, G. Ferrari, M. Zeviani, D.J. Burn, P.F. Chinnery
POLG1 in idiopathic Parkinson disease
2006 W. Tiangyou, G. Hudson, D. Ghezzi, G. Ferrari, M. Zeviani, D.J. Burn, P.F. Chinnery
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum
2008 R. Marongiu, A. Ferraris, T. Ialongo, S. Michiorri, F. Soleti, F. Ferrari, A.E. Elia, D. Ghezzi, A. Albanese, M.C. Altavista, A. Antonini, P. Barone, L. Brusa, P. Cortelli, P. Martinelli, M.T. Pellecchia, G. Pezzoli, C. Scaglione, P. Stanzione, M. Tinazzi, A. Zecchinelli, M. Zeviani, E. Cassetta, B. Garavaglia, B. Dallapiccola, A.R. Bentivoglio, E.M. Valente, T. Avarello, C. Barzaghi, E. Conca, A. Bonizzato, U. Bonuccelli, F. Brancati, O. Scarciolla, L. Stuppia, G. Montagna, S. Goldwurm, M. Canesi, C. Mariani, N. Meucci, G. Sacilotto, S. Tesei, A. Fasano, A. Guidubaldi, C. Marelli, G. Nordera, T. Scaravilli
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
2008 D. Ghezzi, A. Saada, P. D'Adamo, E. Fernandez-Vizarra, P. Gasparini, V. Tiranti, O. Elpeleg, M. Zeviani
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
2008 N. Nardocci, G. Zorzi, C. Barzaghi, F. Zibordi, C. Ciano, D. Ghezzi, B. Garavaglia
Parkin analysis in early onset Parkinson's disease
2008 F. Sironi, P. Primignani, M. Zini, S. Tunesi, C. Ruffmann, S. Ricca, T. Brambilla, A. Antonini, S. Tesei, M. Canesi, A. Zecchinelli, C. Mariani, N. Meucci, G. Sacilotto, R. Cilia, I.U. Isaias, B. Garavaglia, D. Ghezzi, M. Travi, A. Decarli, D.A. Coviello, G. Pezzoli, S. Goldwurm
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
2009 D. Ghezzi, C. Viscomi, A. Ferlini, F. Gualandi, P. Mereghetti, D. Degrandis, M. Zeviani
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
2009 D. Ghezzi, P. Goffrini, G. Uziel, R. Horvath, T. Klopstock, H. Lochmuller, P. D'Adamo, P. Gasparini, T.M. Strom, H. Prokisch, F. Invernizzi, I. Ferrero, M. Zeviani
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator
2010 C. Dallabona, R.M. Marsano, P. Arzuffi, D. Ghezzi, P. Mancini, M. Zeviani, I. Ferrero, C. Donnini
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
2010 D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, F. Novara, O. Zuffardi, G. Uziel, M. Zeviani
Infantile mitochondrial encephalopathy
2011 G. Uziel, D. Ghezzi, M. Zeviani
Mitochondrial Disorders: Nuclear Gene Mutations
2011 D. Ghezzi, M. Zeviani
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
2011 D. Ghezzi, P. Arzuffi, M. Zordan, C. Da Re, C. Lamperti, C. Benna, P. D'Adamo, D. Diodato, R. Costa, C. Mariotti, G. Uziel, C. Smiderle, M. Zeviani
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I
2012 C. Lamperti, D. Diodato, E. Lamantea, F. Carrara, D. Ghezzi, P. Mereghetti, R. Rizzi, M. Zeviani
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
2012 D. Ghezzi, E. Baruffini, T.B. Haack, F. Invernizzi, L. Melchionda, C. Dallabona, T.M. Strom, R. Parini, A.B. Burlina, T. Meitinger, H. Prokisch, I. Ferrero, M. Zeviani
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