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

Research Output 1990 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

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

Pediatrics
Mutation
Megalencephaly
Vascular Malformations
Brain

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

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes

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
Rett Syndrome
phenotype
GABA Receptors
Deregulation
genes

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

Aicardi Syndrome
Magnetic resonance imaging
Monitoring
Chemical activation
Leukoencephalopathies
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

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

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

Charcot-Marie-Tooth Disease
Riboflavin Deficiency
Outcome Assessment (Health Care)
Confidence Intervals
Pediatrics
Negotiating
Tooth
Walking
Healthy Volunteers
Muscle Weakness
Negotiating
Tooth
Walking
Healthy Volunteers
Muscle Weakness

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

Brain Diseases
Genes
Exome
Phenotype
Inborn Genetic Diseases

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
Leukoencephalopathies
Brain Stem
Spinal Cord
Phenotype
Mitochondrial Diseases
Leukoencephalopathies
Brain Stem
Spinal Cord
Phenotype
Mitochondrial Diseases

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

Corpus Striatum
Necrosis
Vitamins
Therapeutics
Thiamine
Untranslated RNA
Long Noncoding RNA
Language Development
Comparative Genomic Hybridization
Penetrance
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

Congenital Myasthenic Syndromes
Mutation
Genes
Post-Synaptic Density
Inborn Genetic Diseases

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

Mitochondrial Degradation
Optic Atrophy
Mutation
Fibroblasts
Mitochondrial DNA
Cardiac Arrhythmias
Paralysis
Dichlorphenamide
Channelopathies
Mutation

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

Muscular Dystrophies
Intellectual Disability
Cataract
Mutation
Molecular Biology

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

Charcot-Marie-Tooth Disease
Confidence Intervals
Pediatrics
Tooth
Mutation

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

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

Charcot-Marie-Tooth Disease
Gait
Outcome Assessment (Health Care)
Biomechanical Phenomena
Muscle Strength

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

Charcot-Marie-Tooth Disease
Gait
Outcome Assessment (Health Care)
Biomechanical Phenomena
Muscle Strength

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

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

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

Limb-Girdle Muscular Dystrophies
Registries
Differential Diagnosis
Biomarkers
Muscles

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

Limb-Girdle Muscular Dystrophies
Registries
Differential Diagnosis
Biomarkers
Muscular Diseases

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

Limb-Girdle Muscular Dystrophies
Registries
Differential Diagnosis
Biomarkers
Muscles

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

Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis

Invernizzi, F., Panteghini, C., Chiapparini, L., Moroni, I., Nardocci, N., Garavaglia, B. & Tonduti, D., Aug 22 2017, In : Neurology. 89, 8, p. 870-871 2 p.

Research output: Contribution to journalShort survey

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

Mitochondrial Dynamics
Peroxisomes
Brain Diseases
Organelles
Mitochondria

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

Aicardi Syndrome
Phenotype
Mutation
Cytomegalovirus Infections
Cysts

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

Cytochrome-c Oxidase Deficiency
Leukoencephalopathies
Oxidoreductases
Mutation
Fibroblasts

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

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

Leukoencephalopathies
Succinate Dehydrogenase
Magnetic Resonance Imaging
Pyramidal Tracts
Corpus Callosum

"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
Corpus Striatum
Nervous System Diseases
Necrosis
Neostriatum
Software Design

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

Mitochondrial Diseases
Genes
Technology
Exome
Mutation

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S., Cassandrini, D., Mercuri, E., Tasca, G., Bertini, E., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D’Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., 2016, In : Journal of Molecular Neuroscience. 59, 3, p. 351-359 9 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Mutation
Genes
RNA Sequence Analysis
Genetic Counseling