Research Output per year
Research Output 2001 2019
- 675 Citations
- 18 h-Index
- 49 Article
2019
3
Citations
(Scopus)
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy
Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, , May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.Research output: Contribution to journal › Article
Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy
Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, , May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.Research output: Contribution to journal › Article
Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, , Jul 24 2018, In : Neurology. 91, 4, p. e319-e330Research output: Contribution to journal › Article
Cerebellum
Exome
Autophagy
Zebrafish
Neurodegenerative Diseases
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.Research output: Contribution to journal › Article
Kinesin
Microtubules
Spindle Apparatus
Tubulin
Cell Division
ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins
Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 p.Research output: Contribution to journal › Article
Thioctic Acid
Mutation
Nonketotic Hyperglycinemia
Lactic Acidosis
Proteins
2017
8
Citations
(Scopus)
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, , May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 89Research output: Contribution to journal › Article
Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
8
Citations
(Scopus)
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, , May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.Research output: Contribution to journal › Article
Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
3
Citations
(Scopus)
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
Di Nottia, M., Montanari, A., Verrigni, D., Oliva, R., Torraco, A., Fernandez-Vizarra, E., Diodato, D., Rizza, T., Bianchi, M., Catteruccia, M., Zeviani, M., Dionisi-Vici, C., Francisci, S., Bertini, E. & Carrozzo, R., Apr 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 4, p. 961-967 7 p.Research output: Contribution to journal › Article
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA
2016
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Diodato, D., Tasca, G., Verrigni, D., D'Amico, A., Rizza, T., Tozzi, G., Martinelli, D., Verardo, M., Invernizzi, F., Nasca, A., Bellacchio, E., Ghezzi, D., Piemonte, F., Dionisi Vici, C., Carrozzo, R. & Bertini, E. S., Mar 1 2016, In : European Journal of Human Genetics. 24, 3, p. 463-466 4 p.Research output: Contribution to journal › Article
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
23
Citations
(Scopus)
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Diodato, D., Tasca, G., Verrigni, D., D'Amico, A., Rizza, T., Tozzi, G., Martinelli, D., Verardo, M., Invernizzi, F., Nasca, A., Bellacchio, E., Ghezzi, D., Piemonte, F., Dionisi-Vici, C., Carrozzo, R. & Bertini, E., Mar 1 2016, In : European Journal of Human Genetics. 24, 3, p. 463-466 4 p.Research output: Contribution to journal › Article
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., Christodoulou, J. & 2 others, , 2016, (Accepted/In press) In : Clinical Genetics.Research output: Contribution to journal › Article
Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies
13
Citations
(Scopus)
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi-Vici, C., Christodoulou, J. & 2 others, , 2016, (Accepted/In press) In : Clinical Genetics.Research output: Contribution to journal › Article
Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies
31
Citations
(Scopus)
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB
Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.Research output: Contribution to journal › Article
Riboflavin
Succinic Acid
sulofenur
Mutation
Leukoencephalopathies
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB
Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E. S., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.Research output: Contribution to journal › Article
Riboflavin
Succinic Acid
sulofenur
Mutation
Leukoencephalopathies
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7
Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.Research output: Contribution to journal › Article
Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A. R., Bertini, E., Piemonte, F., Carrozzo, R. & Silvestri, G., Oct 6 2016, In : Clinical Genetics.Research output: Contribution to journal › Article
Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7
Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.Research output: Contribution to journal › Article
Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders
21
Citations
(Scopus)
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., Van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 others, , Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.Research output: Contribution to journal › Article
Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi Vici, C., Vanderver, A., Philip, S. G. & 14 others, , Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.Research output: Contribution to journal › Article
Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases
14
Citations
(Scopus)
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
Torraco, A., Ardissone, A., Invernizzi, F., Rizza, T., Fiermonte, G., Niceta, M., Zanetti, N., Martinelli, D., Vozza, A., Verrigni, D., Di Nottia, M., Lamantea, E., Diodato, D., Tartaglia, M., Dionisi-Vici, C., Moroni, I., Farina, L., Bertini, E., Ghezzi, D. & Carrozzo, R., Oct 26 2016, (Accepted/In press) In : Journal of Neurology. p. 1-10 10 p.Research output: Contribution to journal › Article
Phenotype
Mutation
Glycine Decarboxylase Complex H-Protein
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ketoglutarate Dehydrogenase Complex
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
Verrigni, D., Diodato, D., Di Nottia, M., Torraco, A., Bellacchio, E., Rizza, T., Tozzi, G., Verardo, M. G., Piemonte, F., Tasca, G., D'Amico, A., Bertini, E. & Carrozzo, R., Nov 28 2016, In : Clinical Genetics.Research output: Contribution to journal › Article
Hypertrophic Cardiomyopathy
Electron Transport
Mutation
Lysine-tRNA Ligase
Amino Acyl-tRNA Synthetases
19
Citations
(Scopus)
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra, A., Baillat, G., Rizza, T., Barresi, S., Flex, E., Tasca, G., D'Amico, A., Bellacchio, E., Ciolfi, A., Caputo, V., Cecchetti, S., Torella, A., Zanni, G., Diodato, D., Piermarini, E., Niceta, M., Coppola, A., Tedeschi, E., Martinelli, D., Dionisi-Vici, C. & 6 others, , Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 974-983 10 p.Research output: Contribution to journal › Article
Spinal Muscular Atrophy
Brain Diseases
Tubulin
Microtubules
Fibroblasts
2015
19
Citations
(Scopus)
'Behr syndrome' with OPA1 compound heterozygote mutations
Carelli, V., Sabatelli, M., Carrozzo, R., Rizza, T., Schimpf, S., Wissinger, B., Zanna, C., Rugolo, M., La Morgia, C., Caporali, L., Carbonelli, M., Barboni, P., Tonon, C., Lodi, R. & Bertini, E., Jan 1 2015, In : Brain. 138, p. e321Research output: Contribution to journal › Article
17
Citations
(Scopus)
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Castiglioni, C., Verrigni, D., Okuma, C., Diaz, A., Alvarez, K., Rizza, T., Carrozzo, R., Bertini, E. & Miranda, M., Sep 1 2015, In : European Journal of Paediatric Neurology. 19, 5, p. 497-503 7 p., 1907.Research output: Contribution to journal › Article
Pyruvate Dehydrogenase Complex Deficiency Disease
Thiamine
Dystonia
Deficiency Diseases
Corpus Striatum
2014
12
Citations
(Scopus)
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1
Travaglione, S., Loizzo, S., Rizza, T., Del Brocco, A., Ballan, G., Guidotti, M., Vona, R., Di Nottia, M., Torraco, A., Carrozzo, R., Fiorentini, C. & Fabbri, A., 2014, In : FEBS Journal. 281, 15, p. 3473-3488 16 p.Research output: Contribution to journal › Article
Escherichia coli
Mitochondria
Adenosine Triphosphate
Cyclic AMP-Dependent Protein Kinases
Rett Syndrome
14
Citations
(Scopus)
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency: The chaperon-like effect of vitamin B2
Carrozzo, R., Torraco, A., Fiermonte, G., Martinelli, D., Di Nottia, M., Rizza, T., Vozza, A., Verrigni, D., Diodato, D., Parisi, G., Maiorana, A., Rizzo, C., Pierri, C. L., Zucano, S., Piemonte, F., Bertini, E. & Dionisi-Vici, C., Sep 1 2014, In : Mitochondrion. 18, p. 49-57 9 p.Research output: Contribution to journal › Article
Mitochondrial Myopathies
Riboflavin
Phenotype
Muscles
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
2013
Erratum: MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy (Brain (2013) 136 (872-881))
Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M. & Hubert, L., 2013, In : Brain. 136, 10Research output: Contribution to journal › Article
59
Citations
(Scopus)
MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy
Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G. & Dionisi-Vici, C., 2013, In : Brain. 136, 3, p. 872-881 10 p.Research output: Contribution to journal › Article
Zinc Acetate
Copper
Therapeutics
Liver
Adaptor Protein Complex 1
21
Citations
(Scopus)
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
Nogueira, C., Barros, J., Sá, M. J., Azevedo, L., Taipa, R., Torraco, A., Meschini, M. C., Verrigni, D., Nesti, C., Rizza, T., Teixeira, J., Carrozzo, R., Pires, M. M., Vilarinho, L. & Santorelli, F. M., May 2013, In : Neurogenetics. 14, 2, p. 153-160 8 p.Research output: Contribution to journal › Article
Electron Transport Complex III
Psychiatry
Mutation
Genes
Olivopontocerebellar Atrophies
49
Citations
(Scopus)
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: Definition of the clinical spectrum and molecular findings in five patients
Cassandrini, D., Cilio, M. R., Bianchi, M., Doimo, M., Balestri, M., Tessa, A., Rizza, T., Sartori, G., Meschini, M. C., Nesti, C., Tozzi, G., Petruzzella, V., Piemonte, F., Bisceglia, L., Bruno, C., Dionisi-Vici, C., D'Amico, A., Fattori, F., Carrozzo, R., Salviati, L. & 2 others, , Jan 2013, In : Journal of Inherited Metabolic Disease. 36, 1, p. 43-53 11 p.Research output: Contribution to journal › Article
Mutation
Neuroimaging
Brain Diseases
Transfer RNA Aminoacylation
Amino Acyl-tRNA Synthetases
20
Citations
(Scopus)
Riboflavin transporter 3 involvement in infantile brown-vialetto-van laere disease: Two novel mutations
Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, G., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P. & Bertini, E., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 104-107 4 p.Research output: Contribution to journal › Article
Riboflavin
Mutation
Deafness
Paralysis
Sequence Analysis
2012
9
Citations
(Scopus)
Deep sequencing unearths Nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants
Petruzzella, V., Carrozzo, R., Calabrese, C., Dell'aglio, R., Trentadue, R., Piredda, R., Artuso, L., Rizza, T., Bianchi, M., Porcelli, A. M., Guerriero, S., Gasparre, G. & Attimonelli, M., Sep 2012, In : Human Molecular Genetics. 21, 17, p. 3753-3764 12 p., dds182.Research output: Contribution to journal › Article
Leber's Hereditary Optic Atrophy
High-Throughput Nucleotide Sequencing
Mitochondrial DNA
Mutation
Penetrance
21
Citations
(Scopus)
Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer
Putignani, L., Raffa, S., Pescosolido, R., Rizza, T., Del Chierico, F., Leone, L., Aimati, L., Signore, F., Carrozzo, R., Callea, F., Torrisi, M. R. & Grammatico, P., May 2012, In : Mitochondrion. 12, 3, p. 363-369 7 p.Research output: Contribution to journal › Article
Oxidative Phosphorylation
Adenosine Triphosphate
Breast Neoplasms
Wounds and Injuries
Mitochondria
18
Citations
(Scopus)
TMEM70: A mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex v biogenesis
Torraco, A., Verrigni, D., Rizza, T., Meschini, M. C., Vazquez-Memije, M. E., Martinelli, D., Bianchi, M., Piemonte, F., Dionisi-Vici, C., Santorelli, F. M., Bertini, E. & Carrozzo, R., Nov 2012, In : Neurogenetics. 13, 4, p. 375-386 12 p.Research output: Contribution to journal › Article
Adenosine Triphosphate
Lactic Acidosis
Holoenzymes
Hypertrophic Cardiomyopathy
Oxidative Phosphorylation
2011
4
Citations
(Scopus)
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene
El-Hafidi, M., Meschini, M. C., Rizza, T., Santorelli, F. M., Bertini, E., Carrozzo, R. & Vázquez-Memije, M. E., Dec 2011, In : Journal of Bioenergetics and Biomembranes. 43, 6, p. 683-690 8 p.Research output: Contribution to journal › Article
Cardiolipins
Mitochondrial Genes
Mitochondria
Fibroblasts
Skin
15
Citations
(Scopus)
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion
Zanni, G., Barresi, S., Travaglini, L., Bernardini, L., Rizza, T., Digilio, M. C., Mercuri, E., Cianfarani, S., Valeriani, M., Ferraris, A., Da Sacco, L., Novelli, A., Valente, E. M., Dallapiccola, B. & Bertini, E. S., Aug 2011, In : Neurogenetics. 12, 3, p. 241-245 5 p.Research output: Contribution to journal › Article
Dandy-Walker Syndrome
Down-Regulation
Gene Expression
Chromosome Deletion
Rhombencephalon
5
Citations
(Scopus)
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
Bianchi, M., Rizza, T., Verrigni, D., Martinelli, D., Tozzi, G., Torraco, A., Piemonte, F., Dionisi-Vici, C., Nobili, V., Francalanci, P., Boldrini, R., Callea, F., Santorelli, F. M., Bertini, E. & Carrozzo, R., Nov 18 2011, In : Biochemical and Biophysical Research Communications. 415, 2, p. 300-304 5 p.Research output: Contribution to journal › Article
Mitochondrial DNA
Liver
Fibroblasts
Blood
Tissue
32
Citations
(Scopus)
Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1
Ferreira, M., Torraco, A., Rizza, T., Fattori, F., Meschini, M. C., Castana, C., Go, N. E., Nargang, F. E., Duarte, M., Piemonte, F., Dionisi-Vici, C., Videira, A., Vilarinho, L., Santorelli, F. M., Carrozzo, R. & Bertini, E., Feb 2011, In : Neurogenetics. 12, 1, p. 9-17 9 p.Research output: Contribution to journal › Article
Leukoencephalopathies
Electron Transport
Fibroblasts
Neurospora crassa
Mutation
2009
20
Citations
(Scopus)
Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders
Rizza, T., Vazquez-Memije, M. E., Meschini, M. C., Bianchi, M., Tozzi, G., Nesti, C., Piemonte, F., Bertini, E., Santorelli, F. M. & Carrozzo, R., May 22 2009, In : Biochemical and Biophysical Research Communications. 383, 1, p. 58-62 5 p.Research output: Contribution to journal › Article
Mitochondrial Diseases
Oxidative Phosphorylation
Mitochondrial Proton-Translocating ATPases
Cultured Cells
Adenosine Triphosphate
12
Citations
(Scopus)
Cellular and functional analysis of four mutations located in the mitochondrial atpase6gene
Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M. & Carrozzo, R., Apr 1 2009, In : Journal of Cellular Biochemistry. 106, 5, p. 878-886 9 p.Research output: Contribution to journal › Article
Functional analysis
Adenosine Triphosphate
Mutation
Protons
Genes
24
Citations
(Scopus)
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases
Papa, S., Petruzzella, V., Scacco, S., Sardanelli, A. M., Iuso, A., Panelli, D., Vitale, R., Trentadue, R., De Rasmo, D., Capitanio, N., Piccoli, C., Papa, F., Scivetti, M., Bertini, E., Rizza, T. & De Michele, G., May 2009, In : Biochimica et Biophysica Acta - Bioenergetics. 1787, 5, p. 502-517 16 p.Research output: Contribution to journal › Article
Electron Transport
Nervous System Diseases
Genes
Energy Metabolism
Mutation
15
Citations
(Scopus)
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
Denora, P. S., Muglia, M., Casali, C., Truchetto, J., Silvestri, G., Messina, D., Boukrhis, A., Magariello, A., Modoni, A., Masciullo, M., Malandrini, A., Morelli, M., de Leva, M. F., Villanova, M., Giugni, E., Citrigno, L., Rizza, T., Federico, A., Pierallini, A., Quattrone, A. & 4 others, , Feb 15 2009, In : Journal of the Neurological Sciences. 277, 1-2, p. 22-25 4 p.Research output: Contribution to journal › Article
Corpus Callosum
Paraplegia
Mutation Rate
Mutation
Population
2008
18
Citations
(Scopus)
Peroxisomal acyl-CoA-oxidase deficiency: Two new cases
Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., Wanders, R. J. A., Jakobs, C., Bruno, C., Santorelli, F. M., Dionisi-Vici, C. & Bonioli, E., Jul 1 2008, In : American Journal of Medical Genetics, Part A. 146, 13, p. 1676-1681 6 p.Research output: Contribution to journal › Article
Acyl-CoA Oxidase
Mutation
Exons
Phytanic Acid
Plasmalogens
2007
7
Citations
(Scopus)
Infantile mitochondrial disorders
Carrozzo, R., Piemonte, F., Tessa, A., Lucioli, S., Rizza, T., Meschini, M. C., Fattori, F. & Santorelli, F. M., Jun 2007, In : Bioscience Reports. 27, 1-3, p. 105-112 8 p.Research output: Contribution to journal › Article
Mitochondrial Diseases
Inborn Genetic Diseases
Medicine
Phenotype
2004
7
Citations
(Scopus)
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli
Carrozzo, R., Rizza, T., Lucioli, S., Pierini, R., Bertini, E. & Santorelli, F. M., May 2004, In : Acta Paediatrica, International Journal of Paediatrics, Supplement. 93, 445, p. 65-67 3 p.Research output: Contribution to journal › Article
Leigh Disease
Adenosine Triphosphatases
Protons
Adenosine Triphosphate
Escherichia coli
19
Citations
(Scopus)
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis
Carrozzo, R., Rizza, T., Stringaro, A., Pierini, R., Mormone, E., Santorelli, F. M., Malorni, W. & Matarrese, P., Jul 2004, In : Journal of Neurochemistry. 90, 2, p. 490-501 12 p.Research output: Contribution to journal › Article
Mitochondrial DNA
Mitochondria
Apoptosis
Mutation
Caspase 9
2003
22
Citations
(Scopus)
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers: Abnormal expression in merosin-negative and Duchenne muscular dystrophies
Petrini, S., Tessa, A., Carrozzo, R., Verardo, M., Pierini, R., Rizza, T. & Bertini, E., Jun 1 2003, In : Molecular and Cellular Neuroscience. 23, 2, p. 219-231 13 p.Research output: Contribution to journal › Article
Chondroitin Sulfate Proteoglycans
Sarcolemma
Duchenne Muscular Dystrophy
Laminin
Melanoma
56
Citations
(Scopus)
Mutation analysis in 16 patients with mtDNA depletion.
Carrozzo, R., Bornstein, B., Lucioli, S., Campos, Y., de la Pena, P., Petit, N., Dionisi-Vici, C., Vilarinho, L., Rizza, T., Bertini, E., Garesse, R., Santorelli, F. M. & Arenas, J., Apr 2003, In : Human Mutation. 21, 4, p. 453-454 2 p.Research output: Contribution to journal › Article
Mitochondrial DNA
Mutation
Genes
Genetic Counseling
Genetic Association Studies
2001
17
Citations
(Scopus)
Replication studies in longevity: Puzzling findings in Danish centenarians at the 3′ APOB-VNTR locus
Varcasia, O., Garasto, S., Rizza, T., Andersen-Ranberg, K., Jeune, B., Bathum, L., Andreev, K., Tan, Q., Yashin, A. I., Bonafè, M., Franceschi, C. & De Benedictis, G., 2001, In : Annals of Human Genetics. 65, 4, p. 371-376 6 p.Research output: Contribution to journal › Article
Minisatellite Repeats
Alleles
Gene Frequency
Genes
Population Genetics