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2019

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., van der Walt, A., de Coo, I. F. M., McGowan, A., Lyons, G., Aarsen, F. K., Barca, D., van Beynum, I. M., van der Knoop, M. M., Jansen, J., Manshande, M. & 26 others, Lunsing, R. J., Nowak, S., den Uil, C. A., Zillikens, M. C., Visser, F. E., Vrijmoeth, P., de Wit, M. C. Y., Wolf, N. I., Zandstra, A., Ambegaonkar, G., Singh, Y., de Rijke, Y. B., Medici, M., Bertini, E. S., Depoorter, S., Lebl, J., Cappa, M., De Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Oliver Petit, I., Polak, M., Chatterjee, K., Visser, T. J. & Visser, W. E., Sep 2019, In : The Lancet Diabetes and Endocrinology. 7, 9, p. 695-706 12 p.

Research output: Contribution to journalArticle

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

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

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

Habit reversal training in children and adolescents with chronic tic disorders: An Italian randomized, single-blind pilot study

Seragni, G., Chiappedi, M., Bettinardi, B., Zibordi, F., Colombo, T., Reina, C. & Angelini, L., Feb 1 2018, In : Minerva Pediatrica. 70, 1, p. 5-11 7 p.

Research output: Contribution to journalArticle

Habit reversal training in children and adolescents with chronic tic disorders: An Italian randomized, single-blind pilot study

Seragni, G., Chiappedi, M., Bettinardi, B., Zibordi, F., Colombo, T., Reina, C. & Angelini, L., 2018, In : Minerva Pediatrica. 70, 1, p. 5-11 7 p.

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

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

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

2016

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

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

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

Habit Reversal Training in children and adolescents with chronic tic disorders: an Italian randomized, single blind, pilot study.

Seragni, G., Chiappedi, M. A., Bettinardi, B., Zibordi, F., Colombo, T., Reina, G. & Angelini, L., 2015, In : Minerva Pediatrica.

Research output: Contribution to journalArticle

2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., Odent, S. & 13 others, Pinelli, L., Poo, P., Santucci, M., Signorini, S., Simonati, A., Spiegel, R., Stanzial, F., Steinlin, M., Tabarki, B., Wolf, N. I., Zibordi, F., Boltshauser, E. & Valente, E. M., 2014, In : Human Genetics. 134, 1, p. 123-126 4 p.

Research output: Contribution to journalArticle

2012

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

Panteghini, C., Zorzi, G., Venco, P., Dusi, S., Reale, C., Brunetti, D., Chiapparini, L., Zibordi, F., Siegel, B., Garavaglia, B., Simonati, A., Bertini, E., Nardocci, N. & Tiranti, V., Jun 2012, In : Seminars in Pediatric Neurology. 19, 2, p. 75-81 7 p.

Research output: Contribution to journalArticle

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Leoni, V., Strittmatter, L., Zorzi, G., Zibordi, F., Dusi, S., Garavaglia, B., Venco, P., Caccia, C., Souza, A. L., Deik, A., Clish, C. B., Rimoldi, M., Ciusani, E., Bertini, E., Nardocci, N., Mootha, V. K. & Tiranti, V., Mar 2012, In : Molecular Genetics and Metabolism. 105, 3, p. 463-471 9 p.

Research output: Contribution to journalArticle

Phenomenology of psychogenic movement disorders in children

Canavese, C., Ciano, C., Zibordi, F., Zorzi, G., Cavallera, V. & Nardocci, N., Aug 2012, In : Movement Disorders. 27, 9, p. 1153-1157 5 p.

Research output: Contribution to journalArticle

2011

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration

Chiapparini, L., Savoiardo, M., Darrigo, S., Reale, C., Zorzi, G., Zibordi, F., Cordelli, D. M., Franzoni, E., Garavaglia, B. & Nardocci, N., 2011, In : Neuropediatrics. 42, 4, p. 159-162 4 p.

Research output: Contribution to journalArticle

2009

Early onset primary dystonia

Zorzi, G., Zibordi, F., Garavaglia, B. & Nardocci, N., Nov 2009, In : European Journal of Paediatric Neurology. 13, 6, p. 488-492 5 p.

Research output: Contribution to journalArticle

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Cannelli, N., Garavaglia, B., Simonati, A., Aiello, C., Barzaghi, C., Pezzini, F., Cilio, M. R., Biancheri, R., Morbin, M., Bernardina, B. D., Granata, T., Tessa, A., Invernizzi, F., Pessagno, A., Boldrini, R., Zibordi, F., Grazian, L., Claps, D., Carrozzo, R., Mole, S. E. & 2 others, Nardocci, N. & Santorelli, F. M., Feb 20 2009, In : Biochemical and Biophysical Research Communications. 379, 4, p. 892-897 6 p.

Research output: Contribution to journalArticle

2008

Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]

Boccone, L., Dessì, V., Serra, G., Zibordi, F. & Loudianos, G., Jan 15 2008, In : American Journal of Medical Genetics, Part A. 146, 2, p. 257-260 4 p.

Research output: Contribution to journalArticle

Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Nardocci, N., Zorzi, G., Barzaghi, C., Zibordi, F., Ciano, C., Ghezzi, D. & Garavaglia, B., Jan 15 2008, In : Movement Disorders. 23, 1, p. 28-34 7 p.

Research output: Contribution to journalArticle

Paroxysmal movement disorders in GLUT1 deficiency syndrome

Zorzi, G., Castellotti, B., Zibordi, F., Gellera, C. & Nardocci, N., Jul 8 2008, In : Neurology. 71, 2, p. 146-148 3 p.

Research output: Contribution to journalArticle

Polymyography in the diagnosis of childhood onset movement disorders

Canavese, C., Ciano, C., Zorzi, G., Zibordi, F., Costa, C. & Nardocci, N., Nov 2008, In : European Journal of Paediatric Neurology. 12, 6, p. 480-483 4 p.

Research output: Contribution to journalArticle

Sindrome da deficit di trasporto di glucosio tipo 1 (GLUT1): Trattamento con dieta chetogenica in 3 casi con fenotipo atipico

Translated title of the contribution: Glucose-transporter type I deficiency: Ketogenic diet in three patients with atypical phenotypeTeutonico, F., Zorzi, G., De Giorgis, V., Zibordi, F., Alfei, E., Nardocci, N. & Veggiotti, P., May 2008, In : Bollettino - Lega Italiana contro l'Epilessia. 136-137, p. 259-262 4 p.

Research output: Contribution to journalArticle

2005

Enigmatic osteomyelitis and bilateral upper limb palsy in a neonate

Estienne, M., Scaioli, V., Zibordi, F. & Angelini, L., Jan 2005, In : Pediatric Neurology. 32, 1, p. 56-59 4 p.

Research output: Contribution to journalArticle

2004

Neuromyelitis optica in a child with atypical onset and severe outcome

Milani, N., Zibordi, F., Erbetta, A., Pollo, B. & Angelin, L., Jun 2004, In : Neuropediatrics. 35, 3, p. 198-201 4 p.

Research output: Contribution to journalArticle

2003

Pseudotumor cerebri dell'età infantile e adolescenziale: 10 Anni di esperienza

Translated title of the contribution: Pseudotumour cerebri in childhood and adolescence: A ten year experienceErbetta, A., Estienne, M., Zibordi, F., Balestrini, M. R., Chiapparini, L., Ciceri, E., D'Incerti, L. & Savoiardo, M., Jun 2003, In : Rivista di Neuroradiologia. 16, 3, p. 497-501 5 p.

Research output: Contribution to journalArticle

2001

Follow-up of vertically HIV-1-infected long-surviving children

Salvini, F., Scarlatti, G., Bossi, A., Pinzani, R., Zibordi, F., Giovanettoni, C. & Plebani, A., 2001, In : AIDS Patient Care and STDs. 15, 2, p. 59-65 7 p.

Research output: Contribution to journalArticle

Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature

Angelini, L., Pietrogrande, M. C., Delle Piane, M. R., Zibordi, F., Cinque, P., Maccagnano, C. & Vago, L., 2001, In : Neuropediatrics. 32, 5, p. 250-255 6 p.

Research output: Contribution to journalArticle

2000

Age-dependent neurologic manifestations of HIV infection in childhood

Angelini, L., Zibordi, F., Triulzi, F., Cinque, P., Giudici, B., Pinzani, R. & Plebani, A., Jun 2000, In : Neurological Sciences. 21, 3, p. 135-142 8 p.

Research output: Contribution to journalArticle

Brainstem encephalitis resulting from Epstein-Barr virus mimicking an infiltrating tumor in a child

Angelini, L., Bugiani, M., Zibordi, F., Cinque, P. & Bizzi, A., Feb 2000, In : Pediatric Neurology. 22, 2, p. 130-132 3 p.

Research output: Contribution to journalArticle

1999

Unusual presentation and course of HIV-1 progressive encephalopathy

Angelini, L., Zibordi, F., Triulzi, F., Pinzani, R. & Plebani, A., Apr 1999, In : Pediatric Neurology. 20, 4, p. 301-304 4 p.

Research output: Contribution to journalArticle

1998

Epstein-Barr virus DNA in the cerebrospinal fluid of an HIV patient with primary cerebral lymphoma

Plebani, A., Pinzani, R., Vago, L., Cinque, P., Triulzi, F., Zibordi, F. & Angelini, L., 1998, In : European Journal of Pediatrics. 157, 4, p. 291-293 3 p.

Research output: Contribution to journalArticle

Partial seizures associated with antiphospholipid antibodies in childhood

Angelini, L., Granata, T., Zibordi, F., Binelli, S., Zorzi, G. & Besana, C., Oct 1998, In : Neuropediatrics. 29, 5, p. 249-253 5 p.

Research output: Contribution to journalArticle

1997

Alternating hemiplegia in childhood: Report of two cases with positive antiphospholipid antibodies

D'Amico, D., Angelini, L., Grazzi, L., Zibordi, F. & Bussone, G., 1997, In : Italian Journal of Neurological Sciences. 18, 4, p. 72 1 p.

Research output: Contribution to journalArticle