Search Results - "Mencacci, N E"

Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson’s disease by Celardo, I, Costa, A C, Lehmann, S, Jones, C, Wood, N, Mencacci, N E, Mallucci, G R, Loh, S H Y, Martins, L M

“…Mutations in PINK1 and PARKIN cause early-onset Parkinson’s disease (PD), thought to be due to mitochondrial toxicity. Here, we show that in Drosophila pink1…”
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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy by Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W., Bhatia, K. P.

“…Background and purpose The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically…”
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All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia by Sadnicka, A., Teo, J. T., Kojovic, M., Pareés, I., Saifee, T. A., Kassavetis, P., Schwingenschuh, P., Katschnig-Winter, P., Stamelou, M., Mencacci, N. E., Rothwell, J. C., Edwards, M. J., Bhatia, K. P.

“…Background and purpose Traditionally dystonia has been considered a disorder of basal ganglia dysfunction. However, recent research has advocated a more…”
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Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum by Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G.G., Frattini, D., Mencacci, N.E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

“…Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on…”
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Screening of mutations in NOL3 in a myoclonic syndromes series by Macerollo, A., Mencacci, N. E., Erro, R., Cordivari, C., Edwards, M. J., Wood, N. W., Bhatia, Kailash P.

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Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256] by Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G.G., Frattini, D., Mencacci, N.E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

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All in the blink of an eye: new insight into cerebellar and brainstem function in DYT 1 and DYT 6 dystonia by Sadnicka, A., Teo, J. T., Kojovic, M., Pareés, I., Saifee, T. A., Kassavetis, P., Schwingenschuh, P., Katschnig‐Winter, P., Stamelou, M., Mencacci, N. E., Rothwell, J. C., Edwards, M. J., Bhatia, K. P.

“…Click here to view the accompanying paper in this issue…”
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Dissecting the genetic basis of parkinson disease, dystonia and chorea by Mencacci, N E

“…In this thesis I used of a range of genetic methodologies and strategies to unravel the genetic bases of Parkinson disease (PD), myoclonus-dystonia (M-D), and…”
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Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis by 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

“…To compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease. A retrospective study of genetic Parkinson's…”
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