Research Output per year
Research Output
- 49 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, , May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.Research output: Contribution to journal › Article
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
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
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
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
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, , May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.Research output: Contribution to journal › Article
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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. e321Research output: Contribution to journal › Article
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
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 journal › Article
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
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
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
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
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
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
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 journal › Article
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
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
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 journal › Article
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
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
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
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 journal › Article
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
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
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
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 journal › Article
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 journal › Article
2004
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
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
2003
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
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
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 journal › Article