20012019

Research output per year

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Research Output

2019

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, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

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, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

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, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

2017

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, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

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, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 89

Research output: Contribution to journalArticle

2016

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, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

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, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E. S., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

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, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., Van Der Knaap, M. S. & Bertini, E., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

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 journalArticle

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, Nigro, V., Dallapiccola, B., Compagnucci, C., Tartaglia, M., Haase, G. & Bertini, E., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 974-983 10 p.

Research output: Contribution to journalArticle

2015

'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. e321

Research output: Contribution to journalArticle

2014

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 journalArticle

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 journalArticle

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, 10

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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, Santorelli, F. M. & Bertini, E., Jan 2013, In : Journal of Inherited Metabolic Disease. 36, 1, p. 43-53 11 p.

Research output: Contribution to journalArticle

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 journalArticle

2012

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 journalArticle

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 journalArticle

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 journalArticle

2011

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 journalArticle

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 journalArticle

2009

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 journalArticle

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 journalArticle

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 journalArticle

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, Filla, A., Brice, A., Stevanin, G. & Santorelli, F. M., Feb 15 2009, In : Journal of the Neurological Sciences. 277, 1-2, p. 22-25 4 p.

Research output: Contribution to journalArticle

2008

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 journalArticle

2007

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 journalArticle

2004

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 journalArticle

2003

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 journalArticle

2001

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 journalArticle