• 675 Citations
  • 18 h-Index
20012019
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Research Output 2001 2019

  • 675 Citations
  • 18 h-Index
  • 49 Article
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Article
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 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
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, 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

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, 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

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 journalArticle

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 journalArticle

Thioctic Acid
Mutation
Nonketotic Hyperglycinemia
Lactic Acidosis
Proteins
2017
8 Citations (Scopus)
Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
8 Citations (Scopus)
Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
3 Citations (Scopus)
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA
2016
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
23 Citations (Scopus)
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, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

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

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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, 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

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, 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

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 journalArticle

Phenotype
Mutation
Glycine Decarboxylase Complex H-Protein
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ketoglutarate Dehydrogenase Complex
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, 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

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. e321

Research output: Contribution to journalArticle

17 Citations (Scopus)
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 journalArticle

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 journalArticle

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, 10

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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, 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

Mutation
Neuroimaging
Brain Diseases
Transfer RNA Aminoacylation
Amino Acyl-tRNA Synthetases
20 Citations (Scopus)
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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

Cardiolipins
Mitochondrial Genes
Mitochondria
Fibroblasts
Skin
15 Citations (Scopus)
Dandy-Walker Syndrome
Down-Regulation
Gene Expression
Chromosome Deletion
Rhombencephalon
5 Citations (Scopus)
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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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, 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

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 journalArticle

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 journalArticle

Mitochondrial Diseases
Inborn Genetic Diseases
Medicine
Phenotype
2004
7 Citations (Scopus)
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 journalArticle

Mitochondrial DNA
Mitochondria
Apoptosis
Mutation
Caspase 9
2003
22 Citations (Scopus)
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 journalArticle

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 journalArticle

Minisatellite Repeats
Alleles
Gene Frequency
Genes
Population Genetics