Emerging Monogenic Complex Hyperkinetic Disorders

por Carecchio, Miryam, Mencacci, Niccolò E.
Publicado 2017

Naming Genes for Dystonia: DYT-z or Ditzy?

por Mencacci, Niccolo E., Jinnah, H. A.
Publicado 2019

The Emerging Role of Phosphodiesterases in Movement Disorders

por Erro, Roberto, Mencacci, Niccoló E., Bhatia, Kailash P.
Publicado 2021

Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses

por van Midden, Vesna Marija, Kinsley, Lisa, Fraint, Avram, Krainc, Dimitri, Mencacci, Niccolò E.
Publicado 2022

Aripiprazole in the treatment of Huntington’s disease: a case series

por Ciammola, Andrea, Sassone, Jenny, Colciago, Clarissa, Mencacci, Niccolò E, Poletti, Barbara, Ciarmiello, Andrea, Squitieri, Ferdinando, Silani, Vincenzo
Publicado 2009

Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

por Mencacci, Niccolo E., Pittman, Alan M., Isaias, Ioannis U., Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Publicado 2015

Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease

por Ciammola, Andrea, Sassone, Jenny, Sciacco, Monica, Mencacci, Niccolò E, Ripolone, Michela, Bizzi, Caterina, Colciago, Clarissa, Moggio, Maurizio, Parati, Gianfranco, Silani, Vincenzo, Malfatto, Gabriella
Publicado 2011

Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus

por Wagnon, Jacy L., Mencacci, Niccolò E., Barker, Bryan S., Wengert, Eric R., Bhatia, Kailash P., Balint, Bettina, Carecchio, Miryam, Wood, Nicholas W., Patel, Manoj K., Meisler, Miriam H.
Publicado 2018

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

por Mencacci, Niccolò E, Reynolds, Regina H, Ruiz, Sonia Garcia, Vandrovcova, Jana, Forabosco, Paola, Sánchez-Ferrer, Alvaro, Volpato, Viola, Weale, Michael E, Bhatia, Kailash P, Webber, Caleb, Hardy, John, Botía, Juan A, Ryten, Mina
Publicado 2020

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

por Reid, Kimberley M., Steel, Dora, Nair, Sanjana, Bhate, Sanjay, Biassoni, Lorenzo, Sudhakar, Sniya, Heys, Michelle, Burke, Elizabeth, Kamsteeg, Erik-Jan, Hameed, Biju, Zech, Michael, Mencacci, Niccolo E., Barwick, Katy, Topf, Maya, Kurian, Manju A.
Publicado 2023

PREDICT‐PD: An online approach to prospectively identify risk indicators of Parkinson's disease

por Noyce, Alastair J., R'Bibo, Lea, Peress, Luisa, Bestwick, Jonathan P., Adams‐Carr, Kerala L., Mencacci, Niccolo E., Hawkes, Christopher H., Masters, Joseph M., Wood, Nicholas, Hardy, John, Giovannoni, Gavin, Lees, Andrew J., Schrag, Anette
Publicado 2017

A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea

por Salpietro, Vincenzo, Perez‐Dueñas, Belen, Nakashima, Kosuke, San Antonio‐Arce, Victoria, Manole, Andreea, Efthymiou, Stephanie, Vandrovcova, Jana, Bettencourt, Conceicao, Mencacci, Niccolò E., Klein, Christine, Kelly, Michy P., Davies, Ceri H., Kimura, Haruhide, Macaya, Alfons, Houlden, Henry
Publicado 2018

Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation

por Angeli, Aikaterina, Mencacci, Niccolo E, Duran, Raquel, Aviles-Olmos, Iciar, Kefalopoulou, Zinovia, Candelario, Joseph, Rusbridge, Sarah, Foley, Jennifer, Pradhan, Priyanka, Jahanshahi, Marjan, Zrinzo, Ludvic, Hariz, Marwan, Wood, Nicholas W, Hardy, John, Limousin, Patricia, Foltynie, Tom, MRCP, MD
Publicado 2013

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

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

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

por Hersheson, Joshua, Mencacci, Niccolo E, Davis, Mary, MacDonald, Nicola, Trabzuni, Daniah, Ryten, Mina, Pittman, Alan, Paudel, Reema, Kara, Eleanna, Fawcett, Katherine, Plagnol, Vincent, Bhatia, Kailash P, Medlar, Alan J, Stanescu, Horia C, Hardy, John, Kleta, Robert, Wood, Nicholas W, Houlden, Henry
Publicado 2013

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

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

por McNeill, Alisdair, Wu, Ruey-Meei, Tzen, Kai-Yuan, Aguiar, Patricia C., Arbelo, Jose M., Barone, Paolo, Bhatia, Kailash, Barsottini, Orlando, Bonifati, Vincenzo, Bostantjopoulou, Sevasti, Bressan, Rodrigo, Cossu, Giovanni, Cortelli, Pietro, Felicio, Andre, Ferraz, Henrique B., Herrera, Joanna, Houlden, Henry, Hoexter, Marcelo, Isla, Concepcion, Lees, Andrew, Lorenzo-Betancor, Oswaldo, Mencacci, Niccolo E., Pastor, Pau, Pappata, Sabina, Pellecchia, Maria Teresa, Silveria-Moriyama, Laura, Varrone, Andrea, Foltynie, Tom, Schapira, Anthony H. V.
Publicado 2013

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

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

por Kuipers, Demy J. S., Mandemakers, Wim, Lu, Chin‐Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi‐Dain, Lena, Wu‐Chou, Yah‐Huei, Chen, Chiung C., Chang, Hsiu‐Chen, Wu, Shey‐Lin, Yeh, Tu‐Hsueh, Weng, Yi‐Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo
Publicado 2020