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Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease. [electronic resource] by
- Ciammola, Andrea
- Sassone, Jenny
- Sciacco, Monica
- Mencacci, Niccolò E
- Ripolone, Michela
- Bizzi, Caterina
- Colciago, Clarissa
- Moggio, Maurizio
- Parati, Gianfranco
- Silani, Vincenzo
- Malfatto, Gabriella
Producer: 20110606
In:
Movement disorders : official journal of the Movement Disorder Society vol. 26
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GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort. [electronic resource] by
- Lythe, Vanessa
- Athauda, Dilan
- Foley, Jennifer
- Mencacci, Niccolò E
- Jahanshahi, Marjan
- Cipolotti, Lisa
- Hyam, Jonathan
- Zrinzo, Ludvic
- Hariz, Marwan
- Hardy, John
- Limousin, Patricia
- Foltynie, Tom
Producer: 20180615
In:
Journal of Parkinson's disease vol. 7
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23.
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Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations. [electronic resource] by
- Ticozzi, Nicola
- Tiloca, Cinzia
- Mencacci, Niccolò E
- Morelli, Claudia
- Doretti, Alberto
- Rusconi, Daniela
- Colombrita, Claudia
- Sangalli, Davide
- Verde, Federico
- Finelli, Palma
- Messina, Stefano
- Ratti, Antonia
- Silani, Vincenzo
Producer: 20130614
In:
Journal of neurology vol. 260
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ADCY5 mutations are another cause of benign hereditary chorea. [electronic resource] by
- Mencacci, Niccolo E
- Erro, Roberto
- Wiethoff, Sarah
- Hersheson, Joshua
- Ryten, Mina
- Balint, Bettina
- Ganos, Christos
- Stamelou, Maria
- Quinn, Niall
- Houlden, Henry
- Wood, Nicholas W
- Bhatia, Kailash P
Producer: 20150918
In:
Neurology vol. 85
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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations. [electronic resource] by
- Esposito, Silvia
- Carecchio, Miryam
- Tonduti, Davide
- Saletti, Veronica
- Panteghini, Celeste
- Chiapparini, Luisa
- Zorzi, Giovanna
- Pantaleoni, Chiara
- Garavaglia, Barbara
- Krainc, Dimitri
- Lubbe, Steven J
- Nardocci, Nardo
- Mencacci, Niccolò E
Producer: 20190412
In:
Movement disorders : official journal of the Movement Disorder Society vol. 32
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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. [electronic resource] by
- 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
Producer: 20190614
In:
Human mutation vol. 39
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Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. [electronic resource] by
- Winder-Rhodes, Sophie E
- Evans, Jonathan R
- Ban, Maria
- Mason, Sarah L
- Williams-Gray, Caroline H
- Foltynie, Tom
- Duran, Raquel
- Mencacci, Niccolo E
- Sawcer, Stephen J
- Barker, Roger A
Producer: 20130410
In:
Brain : a journal of neurology vol. 136
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28.
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PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology. [electronic resource] by
- Niccolini, Flavia
- Mencacci, Niccolo E
- Yousaf, Tayyabah
- Rabiner, Eugenii A
- Salpietro, Vincenzo
- Pagano, Gennaro
- Balint, Bettina
- Efthymiou, Stephanie
- Houlden, Henry
- Gunn, Roger N
- Wood, Nicholas
- Bhatia, Kailash P
- Politis, Marios
Producer: 20190910
In:
Movement disorders : official journal of the Movement Disorder Society vol. 33
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H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? [electronic resource] by
- Erro, Roberto
- Hersheson, Joshua
- Ganos, Christos
- Mencacci, Niccoló E
- Stamelou, Maria
- Batla, Amit
- Thust, Stefanie Catherine
- Bras, Jose M
- Guerreiro, Rita J
- Hardy, John
- Quinn, Niall P
- Houlden, Henry
- Bhatia, Kailash P
Producer: 20160407
In:
Movement disorders : official journal of the Movement Disorder Society vol. 30
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30.
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PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease. [electronic resource] by
- 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
Producer: 20171229
In:
Movement disorders : official journal of the Movement Disorder Society vol. 32
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Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. [electronic resource] by
- 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
Producer: 20140509
In:
Movement disorders : official journal of the Movement Disorder Society vol. 28
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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. [electronic resource] by
- 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
Producer: 20190611
In:
Movement disorders : official journal of the Movement Disorder Society vol. 33
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33.
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The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. [electronic resource] by
- 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
Producer: 20160531
In:
Human molecular genetics vol. 24
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Parkin disease: a clinicopathologic entity? [electronic resource] by
- Doherty, Karen M
- Silveira-Moriyama, Laura
- Parkkinen, Laura
- Healy, Daniel G
- Farrell, Michael
- Mencacci, Niccolo E
- Ahmed, Zeshan
- Brett, Francesca M
- Hardy, John
- Quinn, Niall
- Counihan, Timothy J
- Lynch, Timothy
- Fox, Zoe V
- Revesz, Tamas
- Lees, Andrew J
- Holton, Janice L
Producer: 20130725
In:
JAMA neurology vol. 70
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35.
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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. [electronic resource] by
- 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
Producer: 20140505
In:
Annals of neurology vol. 73
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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. [electronic resource] by
- 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
Producer: 20180423
In:
Parkinsonism & related disorders vol. 41
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37.
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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. [electronic resource] by
- Duran, Raquel
- Mencacci, Niccolo E
- Angeli, Aikaterini V
- Shoai, Maryam
- Deas, Emma
- Houlden, Henry
- Mehta, Atul
- Hughes, Derralynn
- Cox, Timothy M
- Deegan, Patrick
- Schapira, Anthony H
- Lees, Andrew J
- Limousin, Patricia
- Jarman, Paul R
- Bhatia, Kailash P
- Wood, Nicholas W
- Hardy, John
- Foltynie, Tom
Producer: 20130806
In:
Movement disorders : official journal of the Movement Disorder Society vol. 28
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38.
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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. [electronic resource] by
- 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
Producer: 20200612
In:
Movement disorders : official journal of the Movement Disorder Society vol. 34
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Recessive mutations in VPS13D cause childhood onset movement disorders. [electronic resource] by
- 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
Producer: 20190812
In:
Annals of neurology vol. 83
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40.
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Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. [electronic resource] 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
Producer: 20140305
In:
PloS one vol. 8
Availability: No items available.
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