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Research Output

2019

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio, M., Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A. P., Topf, M., Piano, C., Bentivoglio, A. R., Girotti, F., Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E. & 2 others, Lubbe, S. J. & Nardocci, N., Oct 1 2019, In : Movement Disorders. 34, 10, p. 1516-1527 12 p.

Research output: Contribution to journalArticle

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

on behalf of GEN-O-MA study group, Jan 1 2019, (Accepted/In press) In : Neurological Sciences.

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

2018

A causality algorithm to guide diagnosis and treatment of catatonia due to autoimmune conditions in children and adolescents

Ferrafiat, V., Raffin, M., Freri, E., Granata, T., Nardocci, N., Zibordi, F., Bodeau, N., Benarous, X., Olliac, B., Riquin, E., Xavier, J., Viaux, S., Haroche, J., Amoura, Z., Gerardin, P., Cohen, D. & Consoli, A., Oct 1 2018, In : Schizophrenia Research. 200, p. 68-76 9 p.

Research output: Contribution to journalArticle

ATP1A3-related disorders: An update

Carecchio, M., Zorzi, G., Ragona, F., Zibordi, F. & Nardocci, N., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 257-263 7 p.

Research output: Contribution to journalReview article

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Invernizzi, F., Zorzi, G., Legati, A., Coppola, G., D'Adamo, P., Nardocci, N., Garavaglia, B. & Ghezzi, D., Oct 1 2018, In : European Journal of Medical Genetics. 61, 10, p. 581-584 4 p.

Research output: Contribution to journalArticle

Diagnosis and treatment of pediatric onset isolated dystonia

Zorzi, G., Carecchio, M., Zibordi, F., Garavaglia, B. & Nardocci, N., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 238-244 7 p.

Research output: Contribution to journalReview article

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

Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders

Granata, T., Matricardi, S., Ragona, F., Freri, E., Zibordi, F., Andreetta, F., Binelli, S. & Nardocci, N., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 301-307 7 p.

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

The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: An expert video-rating study

Varley, J. A., Webb, A. J. S., Balint, B., Fung, V. S. C., Sethi, K. D., Tijssen, M. A. J., Lynch, T., Mohammad, S. S., Britton, F., Evans, M., Hacohen, Y., Lin, J. P., Nardocci, N., Granata, T., Dale, R. C., Lim, M. J., Bhatia, K. P., Lang, A. E. & Irani, S. R., Jul 21 2018, (Accepted/In press) In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticle

2017

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Carecchio, M., Mencacci, N. E., Iodice, A., Pons, R., Panteghini, C., Zorzi, G., Zibordi, F., Bonakis, A., Dinopoulos, A., Jankovic, J., Stefanis, L., Bhatia, K. P., Monti, V., R'Bibo, L., Veneziano, L., Garavaglia, B., Fusco, C., Wood, N., Stamelou, M. & Nardocci, N., Aug 1 2017, In : Parkinsonism and Related Disorders. 41, p. 37-43 7 p.

Research output: Contribution to journalArticle

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

Ragona, F., Castellotti, B., Salis, B., Magri, S., DiFrancesco, J. C., Nardocci, N., Franceschetti, S., Gellera, C. & Granata, T., Apr 1 2017, In : Seizure. 47, p. 71-73 3 p.

Research output: Contribution to journalArticle

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations

Esposito, S., Carecchio, M., Tonduti, D., Saletti, V., Panteghini, C., Chiapparini, L., Zorzi, G., Pantaleoni, C., Garavaglia, B., Krainc, D., Lubbe, S. J., Nardocci, N. & Mencacci, N. E., Nov 1 2017, In : Movement Disorders. 32, 11, p. 1646-1647 2 p.

Research output: Contribution to journalLetter

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

Darling, A., Tello, C., Martí, M. J., Garrido, C., Aguilera-Albesa, S., Tomás Vila, M., Gastón, I., Madruga, M., González Gutiérrez, L., Ramos Lizana, J., Pujol, M., Gavilán Iglesias, T., Tustin, K., Lin, J. P., Zorzi, G., Nardocci, N., Martorell, L., Lorenzo Sanz, G., Gutiérrez, F., García, P. J. & 23 others, Vela, L., Hernández Lahoz, C., Ortigoza Escobar, J. D., Martí Sánchez, L., Moreira, F., Coelho, M., Correia Guedes, L., Castro Caldas, A., Ferreira, J., Pires, P., Costa, C., Rego, P., Magalhães, M., Stamelou, M., Cuadras Pallejà, D., Rodríguez-Blazquez, C., Martínez-Martín, P., Lupo, V., Stefanis, L., Pons, R., Espinós, C., Temudo, T. & Pérez Dueñas, B., Nov 1 2017, In : Movement Disorders. 32, 11, p. 1620-1630 11 p.

Research output: Contribution to journalArticle

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

Hogarth, P., Hogarth, P., Kurian, M. A., Gregory, A., Csányi, B., Zagustin, T., Kmiec, T., Wood, P., Klucken, A., Scalise, N., Sofia, F., Klopstock, T., Klopstock, T., Klopstock, T., Zorzi, G., Nardocci, N., Hayflick, S. J. & Hayflick, S. J., Mar 1 2017, In : Molecular Genetics and Metabolism. 120, 3, p. 278-287 10 p.

Research output: Contribution to journalArticle

DYT2 screening in early-onset isolated dystonia

Carecchio, M., Reale, C., Invernizzi, F., Monti, V., Petrucci, S., Ginevrino, M., Morgante, F., Zorzi, G., Zibordi, F., Bentivoglio, A. R., Valente, E. M., Nardocci, N. & Garavaglia, B., Mar 1 2017, In : European Journal of Paediatric Neurology. 21, 2, p. 269-271 3 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

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E. S., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

Lamperti, C., Invernizzi, F., Solazzi, R., Freri, E., Carella, F., Zeviani, M., Zibordi, F., Fusco, C., Zorzi, G., Granata, T., Garavaglia, B. & Nardocci, N., Jan 1 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 152-157 6 p.

Research output: Contribution to journalArticle

Cognitive and neuropsychological evolution in children with anti-NMDAR encephalitis

Matricardi, S., Patrini, M., Freri, E., Ragona, F., Zibordi, F., Andreetta, F., Nardocci, N. & Granata, T., Feb 17 2016, (Accepted/In press) In : Journal of Neurology. p. 1-7 7 p.

Research output: Contribution to journalArticle

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Mencacci, N. E., Kamsteeg, E. J., Nakashima, K., R'Bibo, L., Lynch, D. S., Balint, B., Willemsen, M. A. A. P., Adams, M. E., Wiethoff, S., Suzuki, K., Davies, C. H., Ng, J., Meyer, E., Veneziano, L., Giunti, P., Hughes, D., Raymond, F. L., Carecchio, M., Zorzi, G., Nardocci, N. & 11 others, Barzaghi, C., Garavaglia, B., Salpietro, V., Hardy, J., Pittman, A. M., Houlden, H., Kurian, M. A., Kimura, H., Vissers, L. E. L. M., Wood, N. W. & Bhatia, K. P., Apr 7 2016, In : American Journal of Human Genetics. 98, 4, p. 763-771 9 p.

Research output: Contribution to journalArticle

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration

Kraoua, I., Romani, M., Tonduti, D., Benrhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider-Khouja, N., Ben Youssef-Turki, I., Nardocci, N. & Valente, E. M., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e24-e25

Research output: Contribution to journalArticle

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration

Kraoua, I., Romani, M., Tonduti, D., Benrhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider-Khouja, N., Ben Youssef-Turki, I., Nardocci, N. & Valente, E. M., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e24-e25

Research output: Contribution to journalArticle

Vasculogenic and angiogenic pathways in moyamoya disease

Bedini, G., Blecharz, K. G., Nava, S., Vajkoczy, P., Alessandri, G., Ranieri, M., Acerbi, F., Ferroli, P., Riva, D., Esposito, S., Pantaleoni, C., Nardocci, N., Zibordi, F., Ciceri, E., Parati, E. A. & Bersano, A., Feb 1 2016, In : Current Medicinal Chemistry. 23, 4, p. 315-345 31 p.

Research output: Contribution to journalArticle

2015

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction

Ghezzi, D., Canavese, C., Kovacevic, G., Zamurovic, D., Barzaghi, C., Giorgi, C., Zorzi, G., Zeviani, M., Pinton, P., Garavaglia, B. & Nardocci, N., Jan 1 2015, In : European Journal of Paediatric Neurology. 19, 1, p. 64-68 5 p.

Research output: Contribution to journalArticle

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

Mencacci, N. E., Rubio-Agusti, I., Zdebik, A., Asmus, F., Ludtmann, M. H. R., Ryten, M., Plagnol, V., Hauser, A. K., Bandres-Ciga, S., Bettencourt, C., Forabosco, P., Hughes, D., Soutar, M. M. P., Peall, K., Morris, H. R., Trabzuni, D., Tekman, M., Stanescu, H. C., Kleta, R., Carecchio, M. & 13 others, Zorzi, G., Nardocci, N., Garavaglia, B., Lohmann, E., Weissbach, A., Klein, C., Hardy, J., Pittman, A. M., Foltynie, T., Abramov, A. Y., Gasser, T., Bhatia, K. P. & Wood, N. W., Jun 4 2015, In : American Journal of Human Genetics. 96, 6, p. 938-947 10 p.

Research output: Contribution to journalArticle

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

Tonduti, D., Zorzi, G., Ghezzi, D., Zibordi, F., Garavaglia, B. & Nardocci, N., Nov 1 2015, In : Journal of Child Neurology. 30, 13, p. 1800-1805 6 p.

Research output: Contribution to journalArticle

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

Frattini, D., Nardocci, N., Pascarella, R., Panteghini, C., Garavaglia, B. & Fusco, C., Feb 1 2015, In : Brain and Development. 37, 2, p. 270-272 3 p.

Research output: Contribution to journalArticle

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Canafoglia, L., Gilioli, I., Invernizzi, F., Sofia, V., Fugnanesi, V., Morbin, M., Chiapparini, L., Granata, T., Binelli, S., Scaioli, V., Garavaglia, B., Nardocci, N., Berkovic, S. F. & Franceschetti, S., Jul 28 2015, In : Neurology. 85, 4, p. 316-324 9 p.

Research output: Contribution to journalArticle

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Jaffer, F., Avbersek, A., Vavassori, R., Fons, C., Campistol, J., Stagnaro, M., De Grandis, E., Veneselli, E., Rosewich, H., Gianotta, M., Zucca, C., Ragona, F., Granata, T., Nardocci, N., Mikati, M., Helseth, A. R., Boelman, C., Minassian, B. A., Johns, S., Garry, S. I. & 18 others, Scheffer, I. E., Gourfinkel-An, I., Carrilho, I., Aylett, S. E., Parton, M., Hanna, M. G., Houlden, H., Neville, B., Kurian, M. A., Novy, J., Sander, J. W., Lambiase, P. D., Behr, E. R., Schyns, T., Arzimanoglou, A., Cross, J. H., Kaski, J. P. & Sisodiya, S. M., Oct 1 2015, In : Brain. 138, 10, p. 2859-2874 16 p.

Research output: Contribution to journalArticle

Focal seizure, focal dyskinesia, or both? A complex motor phenomenon reveals anti-NMDAR encephalitis

Freri, E., Matricardi, S., Patrini, M., Binelli, S., Andreetta, F., Teutonico, F., Nardocci, N. & Granata, T., Apr 1 2015, In : Seizure. 27, p. 16-18 3 p.

Research output: Contribution to journalArticle

Inherited Isolated Dystonia in Children

Zorzi, G., Carecchio, M. & Nardocci, N., 2015, In : Journal of Pediatric Neurology. 13, 4, p. 174-179 6 p.

Research output: Contribution to journalReview article

Mitochondrial dysfunction in Parkinson disease: Evidence in mutant PARK2 fibroblasts

Zanellati, M. C., Monti, V., Barzaghi, C., Reale, C., Nardocci, N., Albanese, A., Valente, E. M., Ghezzi, D. & Garavaglia, B., 2015, In : Frontiers in Genetics. 6, MAR, 078.

Research output: Contribution to journalArticle

Movement Disorders

Nardocci, N. & Zorzi, G., 2015, In : Journal of Pediatric Neurology. 13, 4, p. 143 1 p.

Research output: Contribution to journalEditorial

Posteroventrolateral pallidotomy through implanted DBS electrodes monitored by recording local field potentials

Franzini, A., Cordella, R., Penner, F., Rosa, M., Messina, G., Rizzi, M., Nardocci, N. & Priori, A., Nov 2 2015, In : British Journal of Neurosurgery. 29, 6, p. 888-890 3 p.

Research output: Contribution to journalArticle

Sporadic and familial glut1ds Italian patients: A wide clinical variability

De bGiorgis, V., Teutonico, F., Cereda, C., Balottin, U., Bianchi, M., Giordano, L., Olivotto, S., Ragona, F., Tagliabue, A., Zorzi, G., Nardocci, N. & Veggiotti, P., 2015, In : Seizure. 24, C, p. 28-32 5 p.

Research output: Contribution to journalArticle

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

Mencacci, N. E., R'bibo, L., Bandres-Ciga, S., Carecchio, M., Zorzi, G., Nardocci, N., Garavaglia, B., Batla, A., Bhatia, K. P., Pittman, A. M., Hardy, J., Weissbach, A., Klein, C., Gasser, T., Lohmann, E. & Wood, N. W., Apr 9 2015, In : Human Molecular Genetics. 24, 18, p. 5326-5329 4 p., ddv255.

Research output: Contribution to journalArticle

2014

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Dusi, S., Valletta, L., Haack, T. B., Tsuchiya, Y., Venco, P., Pasqualato, S., Goffrini, P., Tigano, M., Demchenko, N., Wieland, T., Schwarzmayr, T., Strom, T. M., Invernizzi, F., Garavaglia, B., Gregory, A., Sanford, L., Hamada, J., Bettencourt, C., Houlden, H., Chiapparini, L. & 7 others, Zorzi, G., Kurian, M. A., Nardocci, N., Prokisch, H., Hayflick, S., Gout, I. & Tiranti, V., Jan 2 2014, In : American Journal of Human Genetics. 94, 1, p. 11-22 12 p.

Research output: Contribution to journalArticle

Neurodegeneration with brain iron accumulation

Nardo, N., Cavallera, V., Chiapparini, L. & Zorzi, G., Apr 1 2014, Chorea : Causes and Management. Springer-Verlag London Ltd, p. 171-198 28 p.

Research output: Chapter in Book/Report/Conference proceedingChapter