• 22542 Citations
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1978 …2019
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Research Output 1978 2019

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2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia
Nuclear Pore
Exome
Nuclear Envelope
1 Citation (Scopus)

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

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

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Parikh, S., Karaa, A., Goldstein, A., Bertini, E. S., Chinnery, P. F., Christodoulou, J., Cohen, B. H., Davis, R. L., Falk, M. J., Fratter, C., Horvath, R., Koenig, M. K., Mancuso, M., McCormack, S., McCormick, E. M., McFarland, R., Nesbitt, V., Schiff, M., Steele, H., Stockler, S. & 5 others, Sue, C., Tarnopolsky, M., Thorburn, D. R., Vockley, J. & Rahman, S., Mar 2019, In : Journal of Medical Genetics. 56, 3, p. 123-130 8 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Inborn Genetic Diseases
Patient Harm
Anxiety
Phenotype
ivabradine
Cardiomyopathies
Duchenne Muscular Dystrophy
Dilated Cardiomyopathy
Heart Rate
Cerebellar Ataxia
Spinocerebellar Degenerations
Spectrin
Ataxia
Spinocerebellar Ataxias

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, C., Coratti, G., Pane, M., Ricotti, V., Messina, S., D’Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

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

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Saoura, M., Powell, C. A., Kopajtich, R., Alahmad, A., Al-Balool, H. H., Albash, B., Alfadhel, M., Alston, C. L., Bertini, E., Bonnen, P., Bratkovic, D., Carrozzo, R., Donati, M. A., Nottia, M. D., Ghezzi, D., Goldstein, A., Haan, E., Horvath, R., Hughes, J., Invernizzi, F. & 13 others, Lamantea, E., Lucas, B., Pinnock, K-G., Pujantell, M., Rahman, S., Rebelo-Guiomar, P., Santra, S., Verrigni, D., McFarland, R., Prokisch, H., Taylor, R. W., Levinger, L. & Minczuk, M., May 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Transfer RNA
Mutation
RNA Precursors
Mitochondrial Diseases

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., Hinman, A., Malone, S. A., Bruegger, J. J., Wang, L., Kim, V., Shrader, W. D., Hoff, K. G., Latham, J. C., Ashley, E. A., Wheeler, M. T., Bertini, E., Carrozzo, R., Martinelli, D., Dionisi-Vici, C. & 9 others, Chapman, K. A., Enns, G. M., Gahl, W., Wolfe, L., Saneto, R. P., Johnson, S. C., Trimmer, J. K., Klein, M. B. & Holst, C. R., Mar 28 2019, In : PLoS One. 14, 3, p. e0214250

Research output: Contribution to journalArticle

Mitochondrial Diseases
epilepsy
Arachidonate 15-Lipoxygenase
lipoxygenase
Epilepsy

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

Observational Studies
Tracheostomy
Phenotype
Spinal Muscular Atrophies of Childhood
Noninvasive Ventilation

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

Graziola, F., Stregapede, F., Travaglini, L., Garone, G., Verardo, M., Bosco, L., Pro, S., Bertini, E., Curatolo, P., Vigevano, F. & Capuano, A., Dec 7 2018, In : Parkinsonism and Related Disorders. 3 p.

Research output: Contribution to journalArticle

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Signes, A., Cerutti, R., Dickson, A. S., Benincá, C., Hinchy, E. C., Ghezzi, D., Carrozzo, R., Bertini, E., Murphy, M. P., Nathan, J. A., Viscomi, C., Fernandez-Vizarra, E. & Zeviani, M., Dec 14 2018, In : EMBO Molecular Medicine. 21 p.

Research output: Contribution to journalArticle

Ubiquitination
Proteasome Endopeptidase Complex
Oxidoreductases
Cytochrome-c Oxidase Deficiency
Leukoencephalopathies

ATP1A3-related epileptic encephalopathy responding to ketogenic diet

Schirinzi, T., Graziola, F., Cusmai, R., Fusco, L., Nicita, F., Elia, M., Travaglini, L., Bertini, E., Curatolo, P., Vigevano, F. & Capuano, A., May 2018, In : Brain and Development. 40, 5, p. 433-438 6 p.

Research output: Contribution to journalArticle

Ketogenic Diet
Brain Diseases
Epilepsy
Mutation
Hemiplegia

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

Vicario, M., Zanni, G., Vallese, F., Santorelli, F., Grinzato, A., Cieri, D., Berto, P., Frizzarin, M., Lopreiato, R., Zonta, F., Ferro, S., Sandre, M., Marin, O., Ruzzene, M., Bertini, E., Zanotti, G., Brini, M., Calì, T. & Carafoli, E., Jul 2018, In : Neurobiology of Disease. 115, p. 157-166 10 p.

Research output: Contribution to journalArticle

Ataxia
Calmodulin
Cerebellar Ataxia
Protein Isoforms
Cadherins
Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations

Schirinzi, T., Graziola, F., Nicita, F., Travaglini, L., Stregapede, F., Valeriani, M., Curatolo, P., Bertini, E., Vigevano, F. & Capuano, A., Aug 2018, In : Cerebellum. 17, 4, p. 489-493 5 p.

Research output: Contribution to journalArticle

Ataxia
Mutation
Nuclear Family
Animal Models
Mothers

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Sharkia, R., Wierenga, K. J., Kessel, A., Azem, A., Bertini, E., Carrozzo, R., Torraco, A., Goffrini, P., Berti, C. C., McCormick, M. E., Plecko, B., Klein, A., Abela, L., Hengel, H., Schöls, L., Shalev, S., Khayat, M., Mahajnah, M. & Spiegel, R., Dec 27 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Genes
Aconitate Hydratase
Autosomal Dominant Optic Atrophy
Retinal Dystrophies
Genetic Databases

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Muscular Diseases
Muscles
Mutation
Mosaicism
Missense Mutation

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

Copy number variants account for a tiny fraction of undiagnosed myopathic patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Copy number variants account for a tiny fraction of undiagnosed myopathic patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Nov 1 2018, In : Genes. 9, 11, 524.

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D'Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., Bleecker, J. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Garibaldi, M., Fattori, F., Bortolotti, C. A., Brochier, G., Labasse, C., Verardo, M., Servian-Morilla, E., Gibellini, L., Pinti, M., Di Rocco, G., Raffa, S., Pennisi, E. M., Bertini, E. S., Paradas, C., Romero, N. B. & Antonini, G., Sep 13 2018, In : Acta neuropathologica communications. 6, 1, p. 94

Research output: Contribution to journalArticle

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Kinesin
Microtubules
Spindle Apparatus
Tubulin
Cell Division
1 Citation (Scopus)

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 1 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Multicenter Studies
Epilepsy
Seizures
Phenotype
Intellectual Disability

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Multicenter Studies
Epilepsy
Seizures
Phenotype
Intellectual Disability
1 Citation (Scopus)

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
1 Citation (Scopus)

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Nuovo, S., Fuiano, L., Micalizzi, A., Battini, R., Bertini, E., Borgatti, R., Caridi, G., D'Arrigo, S., Fazzi, E., Fischetto, R., Ghiggeri, G. M., Giordano, L., Leuzzi, V., Romaniello, R., Signorini, S., Stringini, G., Zanni, G., Romani, M., Valente, E. M. & Emma, F., Nov 6 2018, In : Nephrology Dialysis Transplantation.

Research output: Contribution to journalArticle

Chronic Renal Insufficiency
Disease Progression
Osmolar Concentration
Kidney
Urine

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

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, L., Bernasconi, P., D'Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C. & Mantegazza, R., Dec 15 2018, In : Neurological Sciences. 12 p.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Inborn Genetic Diseases
Neuromuscular Junction
Differential Diagnosis
Mutation

Longitudinal gait assessment in a stiff person syndrome

Schirinzi, T., Sancesario, A., Romano, A., Favetta, M., Gobbi, M., Valeriani, M., Bertini, E. S., Castelli, E., Vasco, G., Petrarca, M. & Della Bella, G., Dec 2018, In : International Journal of Rehabilitation Research. 41, 4, p. 377-379 3 p.

Research output: Contribution to journalArticle

Stiff-Person Syndrome
Gait
Dyskinesias
Natural History
Posture

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy

Bertini, E. & Mercuri, E., Apr 2018, In : Nature Reviews Neurology. 14, 4, p. 197-198 2 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 1

Research output: Contribution to journalArticle

Natural history of a cohort of ABCD1 variants female carriers

Schirinzi, T., Vasco, G., Aiello, C., Rizzo, C., Sancesario, A., Romano, A., Favetta, M., Petrarca, M., Paone, L., Castelli, E., Bertini, E. S. & Cappa, M., Oct 8 2018, In : European Journal of Neurology. p. 326-332 7 p.

Research output: Contribution to journalArticle

Natural History
Sample Size
Fatty Acids
Adrenoleukodystrophy
Disease Progression

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Glaucoma
Cataract
Distal Myopathies
Slow-Twitch Muscle Fibers
Biopsy