Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias

por Lin, Jean-Pierre, Nardocci, Nardo
Publicado 2016

Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations

por Singh, Jatinder, Lanzarini, Evamaria, Nardocci, Nardo, Santosh, Paramala
Publicado 2021

Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia

por Casellato, Claudia, Pedrocchi, Alessandra, Zorzi, Giovanna, Rizzi, Giorgio, Ferrigno, Giancarlo, Nardocci, Nardo
Publicado 2012

Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm

por Danti, Federica Rachele, Invernizzi, Federica, Moroni, Isabella, Garavaglia, Barbara, Nardocci, Nardo, Zorzi, Giovanna
Publicado 2021

Two Cases of TMEM151A ‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients

por Satolli, Sara, Invernizzi, Federica, Danti, Federica Rachele, Reale, Chiara, Panteghini, Celeste, Nardocci, Nardo, Garavaglia, Barbara, Zorzi, Giovanna
Publicado 2023

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

por Zanellati, Maria C., Monti, Valentina, Barzaghi, Chiara, Reale, Chiara, Nardocci, Nardo, Albanese, Alberto, Valente, Enza M., Ghezzi, Daniele, Garavaglia, Barbara
Publicado 2015

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

por Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro
Publicado 2013

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

por Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona
Publicado 2018

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

por Mencacci, Niccolo E., R'bibo, Léa, Bandres-Ciga, Sara, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Batla, Amit, Bhatia, Kailash P., Pittman, Alan M., Hardy, John, Weissbach, Anne, Klein, Christine, Gasser, Thomas, Lohmann, Ebba, Wood, Nicholas W.
Publicado 2015

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

por Danielsson, Annika, Carecchio, Miryam, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Göran, Romito, Luigi, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Göran, Tedroff, Kristina
Publicado 2019

Variants in ATP5F1B are associated with dominantly inherited dystonia

por Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele
Publicado 2023

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

por Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, Nardocci, Nardo
Publicado 2017

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

por Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, Marini, Carla
Publicado 2023

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

por Varley, James A, Webb, Alastair J S, Balint, Bettina, Fung, Victor S C, Sethi, Kapil D, Tijssen, Marina A J, Lynch, Timothy, Mohammad, Shakeeb S, Britton, Fiona, Evans, Matthew, Hacohen, Yael, Lin, Jean-Pierre, Nardocci, Nardo, Granata, Tiziana, Dale, Russell C, Lim, Ming J, Bhatia, Kailash P, Lang, Anthony E, Irani, Sarosh R
Publicado 2019

Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics

por Pringsheim, Tamara, Batla, Amit, Shalash, Ali, Sahu, Jitendra Kumar, Cosentino, Carlos, Ebrahimi‐Fakhari, Darius, Friedman, Jennifer, Lin, Jean‐Pierre, Mink, Jonathan, Munchau, Alexander, Munoz, Daniela, Nardocci, Nardo, Perez‐Dueñas, Belen, Sardar, Zomer, Triki, Chahnez, Ben‐Pazi, Hilla, Silveira‐Moriyama, Laura, Troncoso‐Schifferli, Monica, Hoshino, Kyoko, Dale, Russell C., Fung, Victor S.C., Kurian, Manju A., Roze, Emmanuel
Publicado 2023

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

por Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D’Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria
Publicado 2023

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

por Tinelli, Francesca, Nava, Sara, Arioli, Francesco, Bedini, Gloria, Scelzo, Emma, Lisini, Daniela, Faragò, Giuseppe, Gioppo, Andrea, Ciceri, Elisa F., Acerbi, Francesco, Ferroli, Paolo, Vetrano, Ignazio G., Esposito, Silvia, Saletti, Veronica, Pantaleoni, Chiara, Zibordi, Federica, Nardocci, Nardo, Zedde, Maria Luisa, Pezzini, Alessandro, Di Lazzaro, Vincenzo, Capone, Fioravante, Dell’Acqua, Maria Luisa, Vajkoczy, Peter, Tournier-Lasserve, Elisabeth, Parati, Eugenio A., Bersano, Anna, Gatti, Laura
Publicado 2020

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

por Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.
Publicado 2016

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

por Garau, Jessica, Cavallera, Vanessa, Valente, Marialuisa, Tonduti, Davide, Sproviero, Daisy, Zucca, Susanna, Battaglia, Domenica, Battini, Roberta, Bertini, Enrico, Cappanera, Silvia, Chiapparini, Luisa, Crasà, Camilla, Crichiutti, Giovanni, Giustina, Elvio Dalla, D’Arrigo, Stefano, Giorgis, Valentina De, Simone, Micaela De, Galli, Jessica, Piana, Roberta La, Messana, Tullio, Moroni, Isabella, Nardocci, Nardo, Panteghini, Celeste, Parazzini, Cecilia, Pichiecchio, Anna, Pini, Antonella, Ricci, Federica, Saletti, Veronica, Salvatici, Elisabetta, Santorelli, Filippo M., Sartori, Stefano, Tinelli, Francesca, Uggetti, Carla, Veneselli, Edvige, Zorzi, Giovanna, Garavaglia, Barbara, Fazzi, Elisa, Orcesi, Simona, Cereda, Cristina
Publicado 2019

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

por Jaffer, Fatima, Avbersek, Andreja, Vavassori, Rosaria, Fons, Carmen, Campistol, Jaume, Stagnaro, Michela, De Grandis, Elisa, Veneselli, Edvige, Rosewich, Hendrik, Gianotta, Melania, Zucca, Claudio, Ragona, Francesca, Granata, Tiziana, Nardocci, Nardo, Mikati, Mohamed, Helseth, Ashley R., Boelman, Cyrus, Minassian, Berge A., Johns, Sophia, Garry, Sarah I., Scheffer, Ingrid E., Gourfinkel-An, Isabelle, Carrilho, Ines, Aylett, Sarah E., Parton, Matthew, Hanna, Michael G., Houlden, Henry, Neville, Brian, Kurian, Manju A., Novy, Jan, Sander, Josemir W., Lambiase, Pier D., Behr, Elijah R., Schyns, Tsveta, Arzimanoglou, Alexis, Cross, J. Helen, Kaski, Juan P., Sisodiya, Sanjay M.
Publicado 2015