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

Research Output

Filter
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 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

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

Research output: Contribution to journalArticle

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes

Cogliati, F., Giorgini, V., Masciadri, M., Bonati, M. T., Marchi, M., Cracco, I., Gentilini, D., Peron, A., Savini, M. N., Spaccini, L., Scelsa, B., Maitz, S., Veneselli, E., Prato, G., Pintaudi, M., Moroni, I., Vignoli, A., Larizza, L. & Russo, S., Aug 1 2019, In : International Journal of Molecular Sciences. 20, 15, 3621.

Research output: Contribution to journalArticle

Open Access

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I. & 12 others, Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S. & Wolf, N. I., 2019, In : Annals of Clinical and Translational Neurology. 7, 1, p. 83-93 11 p.

Research output: Contribution to journalArticle

Open Access

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

Tonduti, D., Izzo, G., D'Arrigo, S., Riva, D., Moroni, I., Zorzi, G., Cavallera, V., Pichiecchio, A., Uggetti, C., Veggiotti, P., Orcesi, S., Chiapparini, L. & Parazzini, C., Feb 25 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 489-94 6 p.

Research output: Contribution to journalArticle

2018

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

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

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

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Mandarakas, M. R., Menezes, M. P., Rose, K. J., Shy, R., Eichinger, K., Foscan, M., Estilow, T., Kennedy, R., Herbert, K., Bray, P., Refshauge, K., Ryan, M. M., Yiu, E. M., Farrar, M., Sampaio, H., Moroni, I., Pagliano, E., Pareyson, D., Yum, S. W., Herrmann, D. N. & 4 others, Acsadi, G., Shy, M. E., Burns, J. & Sanmaneechai, O., Dec 1 2018, In : Brain : a journal of neurology. 141, 12, p. 3319-3330 12 p.

Research output: Contribution to journalArticle

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Cerebral Calcification International Study Group, Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 135

Research output: Contribution to journalArticle

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

KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Ardissone, A., Tonduti, D., Legati, A., Lamantea, E., Barone, R., Dorboz, I., Boespflug-Tanguy, O., Nebbia, G., Maggioni, M., Garavaglia, B., Moroni, I., Farina, L., Pichiecchio, A., Orcesi, S., Chiapparini, L. & Ghezzi, D., Apr 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 45.

Research output: Contribution to journalArticle

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Ardissone, A., Tonduti, D., Legati, A., Lamantea, E., Barone, R., Dorboz, I., Boespflug-Tanguy, O., Nebbia, G., Maggioni, M., Garavaglia, B., Moroni, I., Farina, L., Pichiecchio, A., Orcesi, S., Chiapparini, L. & Ghezzi, D., Apr 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 45

Research output: Contribution to journalArticle

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients

Tonduti, D., Invernizzi, F., Panteghini, C., Pinelli, L., Battaglia, S., Fazzi, E., Zorzi, G., Moroni, I., Garavaglia, B., Chiapparini, L. & Nardocci, N., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 332-335 4 p.

Research output: Contribution to journalArticle

2017

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

Reilly, M. M., Pareyson, D., Burns, J., Laurá, M., Shy, M. E., Singh, D., Agren, P. H., Altmann, V., Baets, J., Briggs, P., Burns, J., Butcher, K., Gaiani, L., Genovese, F., Gibbons, P., Laurá, M., Louwerens, J. W., Manzur, A., Moroni, I., Martinelli, N. & 9 others, Pareyson, D., Pfeffer, G., Ramdharry, G., Reilly, M. M., Shy, M., Singh, D., van der Linden, M., Wenz, W. & ENMC CMT Foot Surgery Study Group, Dec 1 2017, In : Neuromuscular Disorders. 27, 12, p. 1138-1142 5 p.

Research output: Contribution to journalArticle

Congenital myasthenic syndrome: Phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

Ardissone, A., Moroni, I., Bernasconi, P. & Brugnoni, R., Mar 1 2017, In : Acta Myologica. 36, 1, p. 28-32 5 p.

Research output: Contribution to journalArticle

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Liao, C., Ashley, N., Diot, A., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., Ferguson, D. J. P., Vay, L., Quaghebeur, G., Moroni, I., Bianchi, S., Lamperti, C., Downes, S. M., Sitarz, K. S., Flannery, P. J., Carver, J. & 13 others, Dombi, E., East, D., Laura, M., Reilly, M. M., Mortiboys, H., Prevo, R., Campanella, M., Daniels, M. J., Zeviani, M., Yu-Wai-Man, P., Simon, A. K., Votruba, M. & Poulton, J., Jan 10 2017, In : Neurology. 88, 2, p. 131-142 12 p.

Research output: Contribution to journalArticle

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., Willaert, R. K., Bharj, J., Malamiri, R. A., Galehdari, H., Shariati, G., Maroofian, R., Mora, M., Swan, L. E. & 4 others, Voit, T., Conti, F. J., Jamshidi, Y. & Manzini, M. C., Mar 2 2017, In : American Journal of Human Genetics. 100, 3, p. 537-545 9 p.

Research output: Contribution to journalArticle

Natural history of Charcot-Marie-Tooth disease during childhood

Cornett, K. M. D., Menezes, M. P., Shy, R. R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S. W., Bhandari, T., Muntoni, F., Laura, M., Reilly, M. M., Finkel, R. S., Eichinger, K. J., Herrmann, D. N., Bray, P., Halaki, M., Shy, M. E., Burns, J., Cornett, K. M. D. & 27 others, Menezes, M. P., Ouvrier, R., Acsadi, G., Shy, R. R., Calabrese, D., Foscan, M., Sala, R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S. W., Bhandari, T., Muntoni, F., Laura, M., Reilly, M. M., Finkel, R. S., Eichinger, K. J., Herrmann, D. N., Bray, P., Rose, K., Halaki, M., Pallant, J., Lek, M., Shy, M. E., Burns, J. & for the CMTPedS Study Group, Sep 1 2017, In : Annals of Neurology. 82, 3, p. 353-359 7 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. 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

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Lencioni, T., Piscosquito, G., Rabuffetti, M., Bovi, G., Di Sipio, E., Diverio, M., Moroni, I., Padua, L., Pagliano, E., Schenone, A., Pareyson, D. & Ferrarin, M., Aug 2017, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Lencioni, T., Piscosquito, G., Rabuffetti, M., Bovi, G., Di Sipio, E., Diverio, M., Moroni, I., Padua, L., Pagliano, E., Schenone, A., Pareyson, D. & Ferrarin, M., Nov 2017, In : Neuromuscular Disorders. 27, 11, p. 1029-1037 9 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

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

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

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Di Fruscio, G., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., Jan 1 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

2016

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Nasca, A., Legati, A., Baruffini, E., Nolli, C., Moroni, I., Ardissone, A., Goffrini, P. & Ghezzi, D., Sep 1 2016, In : Human Mutation. 37, 9, p. 898-903 6 p.

Research output: Contribution to journalArticle

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

Tonduti, D., Orcesi, S., Jenkinson, E. M., Dorboz, I., Renaldo, F., Panteghini, C., Rice, G. I., Henneke, M., Livingston, J. H., Elmaleh, M., Burglen, L., Willemsen, M. A. A. P., Chiapparini, L., Garavaglia, B., Rodriguez, D., Boespflug-Tanguy, O., Moroni, I. & Crow, Y. J., Jul 2016, In : European Journal of Paediatric Neurology. 20, 4, p. 604-10 7 p.

Research output: Contribution to journalArticle

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Lyons, A. M., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E. & Zeviani, M., 2016, In : Journal of Medical 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. 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

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

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Helman, G., Caldovic, L., Whitehead, M. T., Simons, C., Brockmann, K., Edvardson, S., Bai, R., Moroni, I., Taylor, J. M., Haren, K. V., Taft, R. J., Vanderver, A. & Van Der Knaap, M. S., Mar 1 2016, In : Annals of Neurology. 79, 3, p. 379-386 8 p.

Research output: Contribution to journalArticle

"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

"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

"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

"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

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D. & Zeviani, M., 2016, In : Biochimica et Biophysica Acta - Bioenergetics.

Research output: Contribution to journalArticle