If you made any changes in Pure these will be visible here soon.

Research Output 2010 2019

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

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
Hereditary Spastic Paraplegia
Pyramidal Tracts
Inborn Urea Cycle Disorder
Intellectual Disability
Hyperargininemia
Vitamin B 12
Registries
Phenotype
Eye Diseases
Therapeutics

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Begliuomini, C., Magli, G., Di Rocco, M., Santorelli, F. M., Cassandrini, D., Nesti, C., Deodato, F., Diodato, D., Casellato, S., Simula, D. M., Dessì, V., Eusebi, A., Carta, A. & Sotgiu, S., May 7 2019, In : BMC Medical Genetics. 20, 1, p. 77

Research output: Contribution to journalArticle

Phenotype
Muscle Hypotonia
Italy
Valine-tRNA Ligase
Amino Acyl-tRNA Synthetases
2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy

Diodato, D., Olivieri, G., Pro, S., Maiorani, D., Martinelli, D., Deodato, F., Taurisano, R., Di Capua, M. & Dionisi-Vici, C., Sep 18 2018, In : Neurology. 91, 12, p. 565-567 3 p.

Research output: Contribution to journalArticle

Biomarkers for mitochondrial energy metabolism diseases

Boenzi, S. & Diodato, D., Jul 20 2018, In : Essays in Biochemistry. 62, 3, p. 443-454 12 p.

Research output: Contribution to journalReview article

Biomarkers
Energy Metabolism
Mitochondrial Diseases
Electron Transport
Growth Differentiation Factor 15

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B. D., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P. E., Enrico, B., Pronicka, E., Ghezzi, D. & 2 others, Taylor, R. W. & Diodato, D., Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Molecular Biology
Oxidative Phosphorylation
Valine-tRNA Ligase
Epilepsia Partialis Continua

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., Jul 19 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 120

Research output: Contribution to journalArticle

Riboflavin Deficiency
Acyl-CoA Dehydrogenase
Molecular Biology
Riboflavin
Cardiomyopathies

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

Catania, A., Ardissone, A., Verrigni, D., Legati, A., Reyes, A., Lamantea, E., Diodato, D., Tonduti, D., Imperatore, V., Pinto, A. M., Moroni, I., Bertini, E., Robinson, A., Carrozzo, R., Zeviani, M. & Ghezzi, D., May 2018, In : Journal of Human Genetics. 63, 5, p. 563-568 6 p.

Research output: Contribution to journalArticle

Leigh Disease
Exome
Messenger RNA
RNA Splice Sites
Mutation

Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

Tonduti, D., Panteghini, C., Pichiecchio, A., Decio, A., Carecchio, M., Reale, C., Moroni, I., Nardocci, N., Campistol, J., Garcia-Cazorla, A., Perez Duenas, B., Zorzi, G., Ardissone, A., Granata, T., Freri, E., Zibordi, F., Ragona, F., D'Arrigo, S., Saletti, V., Esposito, S. & 22 others, Pantaleoni, C., Riva, D., De Giorgis, V., Cereda, C., Valente, M. L., Sproviero, D., Poo Arguelles, M. P., Estupina, C. F., Sans Fito, A. M., Martorell Sampol, L., Del Mar O'Callaghan Gordo, M., Ortez Gonzalez, C. I., Gonzalez Alvarez, V., Garcia-Segarra, N., Fusco, C., Bertini, E., Diodato, D., Fazzi, E., Galli, J., Chiapparini, L., Garavaglia, B. & Orcesi, S., Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 135.

Research output: Contribution to journalArticle

Brain Diseases
Genes
Exome
Phenotype
Inborn Genetic Diseases

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Vona, B., Maroofian, R., Bellacchio, E., Najafi, M., Thompson, K., Alahmad, A., He, L., Ahangari, N., Rad, A., Shahrokhzadeh, S., Bahena, P., Mittag, F., Traub, F., Movaffagh, J., Amiri, N., Doosti, M., Boostani, R., Shirzadeh, E., Haaf, T., Diodato, D. & 3 others, Schmidts, M., Taylor, R. W. & Karimiani, E. G., Nov 12 2018, In : BMC Medical Genetics. 19, 1, p. 196 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Cataract
Phenotype
Leigh Disease
Exome

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
Vitamin B 12
Registries
Phenotype
Eye Diseases
Therapeutics

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

Semeraro, M., Boenzi, S., Carrozzo, R., Diodato, D., Martinelli, D., Olivieri, G., Antonetti, G., Sacchetti, E., Catesini, G., Rizzo, C. & Dionisi-Vici, C., Jun 2018, In : Clinica Chimica Acta. 481, p. 156-160 5 p.

Research output: Contribution to journalArticle

Kearns-Sayre Syndrome
Organic acids
Mitochondrial DNA
Acids
Metabolites
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. 89

Research output: Contribution to journalArticle

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy

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

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Bertini, E., Angelini, C., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 14 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M. & Angelini, G., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 13 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G. & Mancuso, M., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

Chronic Progressive External Ophthalmoplegia
Muscular Diseases
Mitochondrial Encephalomyopathies
Mitochondrial Diseases
Sequence Deletion

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 13 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G. & Mancuso, M., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., Oct 24 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticle

Roma
Mutation
Population
Exome
Founder Effect
2016
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
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. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

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

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer, M., Diodato, D., Schwahn, B., Schiff, M., Bandeira, A., Benoist, J-F., Burlina, A. B., Cerone, R., Couce, M. L., Garcia-Cazorla, A., la Marca, G., Pasquini, E., Vilarinho, L., Weisfeld-Adams, J. D., Kožich, V., Blom, H. J., Baumgartner, M. R. & Dionisi-Vici, C., Dec 18 2016, In : Journal of Inherited Metabolic Disease. 40, 1, p. 21-48 28 p.

Research output: Contribution to journalArticle

Homocysteine
Vitamin B 12
Guidelines
Hydroxocobalamin
Betaine

Liver transplant in ethylmalonic encephalopathy: A new treatment for an otherwise fatal disease

Dionisi-Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Liver Transplantation
Transplants
Liver
Thiosulfates
Mitochondrial Diseases

Liver transplant in ethylmalonic encephalopathy: A new treatment for an otherwise fatal disease

Dionisi Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V. S., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Liver Transplantation
Transplants
Liver
Thiosulfates
Mitochondrial 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

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

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Mitochondrial Diseases
Polyneuropathies
Mutation
Age of Onset

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Mitochondrial Diseases
Polyneuropathies
Mutation
Age of Onset

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Mitochondrial Diseases
Polyneuropathies
Mutation
Age of Onset

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Mitochondrial Diseases
Polyneuropathies
Mutation
Age of Onset

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

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Zanolini, A., Potic, A., Carrara, F., Lamantea, E., Diodato, D., Blasevich, F., Marchet, S., Mora, M., Pallotti, F., Morandi, L., Zeviani, M. & Lamperti, C., Dec 15 2016, In : Molecular Genetics and Metabolism Reports. 10, p. 24-27 4 p.

Research output: Contribution to journalArticle

Muscular Diseases
Mitochondria
Mutation
Muscles
Genes

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Ulrick, N., Goldstein, A., Simons, C., Taft, R. J., Helman, G., Pizzino, A., Bloom, M., Vogt, J., Pysden, K., Diodato, D., Martinelli, D., Monavari, A., Buhas, D., van Karnebeek, C. D. M., Dorboz, I., Boespflug-Tanguy, O., Rodriguez, D., Tétreault, M., Majewski, J., Bernard, G. & 4 others, Ng, Y. S., McFarland, R., Vanderver, A. & Care4Rare Canada Consortium, Sep 13 2016, In : Pediatric Neurology. 66, p. 59-62 4 p.

Research output: Contribution to journalArticle

Cell Nucleus Division
Leukoencephalopathies
Cytomegalovirus Infections
Temporal Lobe
Hearing Loss

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

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. A., Ulrick, N., Kmoch, S., Houštek, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A. M., Østergaard, E., Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., Jul 13 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Cell Nucleus Division
Mitochondrial Diseases
Nuclear Proteins
Molecular Biology
Kidney
2015

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Martinelli, D., Diodato, D., Ponzi, E., Monné, M., Boenzi, S., Bertini, E., Fiermonte, G. & Dionisi-Vici, C., Mar 11 2015, (Accepted/In press) In : Orphanet Journal of Rare Diseases. p. 1-17 17 p.

Research output: Contribution to journalArticle

Hyperammonemia
Ornithine
Coma
Mutation
Inborn Urea Cycle Disorder
2014

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

Cytochrome-c Oxidase Deficiency
Leukoencephalopathies
Mitochondrial Proteins
Mitochondrial Diseases
Oxidoreductases

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. & 8 others, Abbink, T. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & Van Der Knaap, M. S., Jun 10 2014, In : Neurology. 82, 23, p. 2063-2071 9 p.

Research output: Contribution to journalArticle

Mutation
Leukoencephalopathies
Phenotype
Cardiomyopathies
Alanine-tRNA Ligase

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)

The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes

Diodato, D., Ghezzi, D. & Tiranti, V., 2014, In : International Journal of Cell Biology. 787956.

Research output: Contribution to journalArticle

Amino Acyl-tRNA Synthetases
Electron Transport
Mitochondrial DNA
Mitochondrial Genome
DNA Replication

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Diodato, D., Melchionda, L., Haack, T. B., Dallabona, C., Baruffini, E., Donnini, C., Granata, T., Ragona, F., Balestri, P., Margollicci, M., Lamantea, E., Nasca, A., Powell, C. A., Minczuk, M., Strom, T. M., Meitinger, T., Prokisch, H., Lamperti, C., Zeviani, M. & Ghezzi, D., 2014, In : Human Mutation. 35, 8, p. 983-989 7 p.

Research output: Contribution to journalArticle

Mitochondrial Encephalomyopathies
Mutation
Transfer RNA
Exome
Electron Transport Complex I
2013

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Esposito, T., Sampaolo, S., Limongelli, G., Varone, A., Formicola, D., Diodato, D., Farina, O., Napolitano, F., Pacileo, G., Gianfrancesco, F. & Di Iorio, G., 2013, In : Orphanet Journal of Rare Diseases. 8, 1, 91.

Research output: Contribution to journalArticle

Myotonia Congenita
Ventricular Myosins
Myosin Heavy Chains
Cardiomyopathies
Integrins

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Sampaolo, S., Esposito, T., Farina, O., Formicola, D., Diodato, D., Gianfrancesco, F., Cipullo, F., Cremone, G., Cirillo, M., Del Viscovo, L., Toscano, A., Angelini, C. & Di Iorio, G., 2013, In : Orphanet Journal of Rare Diseases. 8, 1, 159.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Phenotype
Mutation
Glycogen
Siblings
2012

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

Lamperti, C., Diodato, D., Lamantea, E., Carrara, F., Ghezzi, D., Mereghetti, P., Rizzi, R. & Zeviani, M., Nov 2012, In : Neuromuscular Disorders. 22, 11, p. 990-994 5 p.

Research output: Contribution to journalArticle

MELAS Syndrome
Electron Transport Complex IV
Mitochondrial DNA
Mutation
Muscle Mitochondrion