Emerging and converging molecular mechanisms in dystonia
Gonzalez-Latapi, Paulina, Marotta, Nicolas, Mencacci, Niccolò E.
Published in Journal of Neural Transmission (01.04.2021)
Published in Journal of Neural Transmission (01.04.2021)
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Dystonia
Balint, Bettina, Mencacci, Niccolò E., Valente, Enza Maria, Pisani, Antonio, Rothwell, John, Jankovic, Joseph, Vidailhet, Marie, Bhatia, Kailash P.
Published in Nature reviews. Disease primers (20.09.2018)
Published in Nature reviews. Disease primers (20.09.2018)
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Recessive mutations in >VPS13D cause childhood onset movement disorders
Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Emerging Monogenic Complex Hyperkinetic Disorders
Carecchio, Miryam, Mencacci, Niccolò E.
Published in Current neurology and neuroscience reports (01.12.2017)
Published in Current neurology and neuroscience reports (01.12.2017)
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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study
Carecchio, Miryam, Invernizzi, Federica, Gonzàlez‐Latapi, Paulina, Panteghini, Celeste, Zorzi, Giovanna, Romito, Luigi, Leuzzi, Vincenzo, Galosi, Serena, Reale, Chiara, Zibordi, Federica, Joseph, Agnel P., Topf, Maya, Piano, Carla, Bentivoglio, Anna Rita, Girotti, Floriano, Morana, Paolo, Morana, Benedetto, Kurian, Manju A., Garavaglia, Barbara, Mencacci, Niccolò E., Lubbe, Steven J., Nardocci, Nardo
Published in Movement disorders (01.10.2019)
Published in Movement disorders (01.10.2019)
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Parkinson’s disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons
Song, Pingping, Peng, Wesley, Sauve, Veronique, Fakih, Rayan, Xie, Zhong, Ysselstein, Daniel, Krainc, Talia, Wong, Yvette C., Mencacci, Niccolò E., Savas, Jeffrey N., Surmeier, D. James, Gehring, Kalle, Krainc, Dimitri
Published in Neuron (Cambridge, Mass.) (06.12.2023)
Published in Neuron (Cambridge, Mass.) (06.12.2023)
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
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.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Childhood‐Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report
Danti, Federica Rachele, Sarmiento, Ignacio Juan Keller, Moloney, Patrick B., Colangelo, Isabel, Graziola, Federica, Garavaglia, Barbara, Zorzi, Giovanna, Mencacci, Niccolò E., Lubbe, Steven J.
Published in Movement disorders (01.04.2024)
Published in Movement disorders (01.04.2024)
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A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea
Salpietro, Vincenzo, Perez‐Dueñas, Belen, Nakashima, Kosuke, 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
Published in Movement disorders (01.03.2018)
Published in Movement disorders (01.03.2018)
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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Mencacci, Niccolò E, Brockmann, Marisa M, Dai, Jinye, Pajusalu, Sander, Atasu, Burcu, Campos, Joaquin, Pino, Gabriela, Gonzalez-Latapi, Paulina, Patzke, Christopher, Schwake, Michael, Tucci, Arianna, Pittman, Alan, Simon-Sanchez, Javier, Carvill, Gemma L, Balint, Bettina, Wiethoff, Sarah, Warner, Thomas T, Papandreou, Apostolos, Soo, Audrey, Rein, Reet, Kadastik-Eerme, Liis, Puusepp, Sanna, Reinson, Karit, Tomberg, Tiiu, Hanagasi, Hasmet, Gasser, Thomas, Bhatia, Kailash P, Kurian, Manju A, Lohmann, Ebba, Õunap, Katrin, Rosenmund, Christian, Südhof, Thomas C, Wood, Nicholas W, Krainc, Dimitri, Acuna, Claudio
Published in The Journal of clinical investigation (01.04.2021)
Published in The Journal of clinical investigation (01.04.2021)
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Variants in ATP5F1B are associated with dominantly inherited dystonia
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
Published in Brain (London, England : 1878) (03.07.2023)
Published in Brain (London, England : 1878) (03.07.2023)
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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
MENCACCI, Niccolò E, ISAIAS, Ioannis U, NOYCE, Alastair J, MOK, Kin Y, OPLADEN, Thomas, KUNSTMANN, Erdmute, HODECKER, Sybille, MÜNCHAU, Alexander, VOLKMANN, Jens, SAMNICK, Samuel, SIDLE, Katie, NANJI, Tina, REICH, Martin M, SWEENEY, Mary G, HOULDEN, Henry, BATLA, Amit, ZECCHINELLI, Anna L, PEZZOLI, Gianni, MAROTTA, Giorgio, LEES, Andrew, ALEGRIA, Paulo, KRACK, Paul, CORMIER-DEQUAIRE, Florence, GANOS, Christos, LESAGE, Suzanne, BRICE, Alexis, HEUTINK, Peter, GASSER, Thomas, LUBBE, Steven J, MORRIS, Huw R, TABA, Pille, KOKS, Sulev, MAJOUNIE, Elisa, GIBBS, J. Raphael, PLAGNOL, Vincent, SINGLETON, Andrew, HARDY, John, KLEBE, Stephan, BHATIA, Kailash P, WOOD, Nicholas W, POLKE, James M, BRAS, Jose, HERSHESON, Joshua, STAMELOU, Maria, PITTMAN, Alan M
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
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Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder
Magrinelli, Francesca, Rocca, Clarissa, Simone, Roberto, Zenezini Chiozzi, Riccardo, Jaunmuktane, Zane, Mencacci, Niccolò E., Tinazzi, Michele, Jayawant, Sandeep, Nemeth, Andrea H., Demidov, German, Houlden, Henry, Bhatia, Kailash P.
Published in Movement disorders (01.02.2023)
Published in Movement disorders (01.02.2023)
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