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.

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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

Hoboken, USA: John Wiley & Sons, Inc

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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Steel, Dora ; Zech, Michael ; Zhao, Chen ; Barwick, Katy E. S. ; Burke, Derek ; Demailly, Diane ; Kumar, Kishore R. ; Zorzi, Giovanna ; Nardocci, Nardo ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Iuso, Arcangela ; Berutti, Riccardo ; Škorvánek, Matej ; Necpál, Ján ; Davis, Ryan ; Wiethoff, Sarah ; Mankad, Kshitij ; Sudhakar, Sniya ; Ferrini, Arianna ; Sharma, Suvasini ; Kamsteeg, Erik‐Jan ; Tijssen, Marina A. ; Verschuuren, Corien ; Egmond, Martje E. ; Flowers, Joanna M. ; McEntagart, Meriel ; Tucci, Arianna ; Coubes, Philippe ; Bustos, Bernabe I. ; Gonzalez‐Latapi, Paulina ; Tisch, Stephen ; Darveniza, Paul ; Gorman, Kathleen M. ; Peall, Kathryn J. ; Bötzel, Kai ; Koch, Jan C. ; Kmieć, Tomasz ; Plecko, Barbara ; Boesch, Sylvia ; Haslinger, Bernhard ; Jech, Robert ; Garavaglia, Barbara ; Wood, Nick ; Houlden, Henry ; Gissen, Paul ; Lubbe, Steven J. ; Sue, Carolyn M. ; Cif, Laura ; Mencacci, Niccolò E. ; Anderson, Glenn ; Kurian, Manju A. ; Winkelmann, Juliane

Hoboken, USA: John Wiley & Sons, Inc

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Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Lubbe, Steven J ; Escott-Price, Valentina ; Gibbs, J Raphael ; Nalls, Mike A ; Bras, Jose ; Price, T Ryan ; Nicolas, Aude ; Jansen, Iris E ; Mok, Kin Y ; Pittman, Alan M ; Tomkins, James E ; Lewis, Patrick A ; Noyce, Alastair J ; Lesage, Suzanne ; Sharma, Manu ; Schiff, Elena R ; Levine, Adam P ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Wood, Nicholas W ; Singleton, Andrew B ; Williams, Nigel M ; Morris, Huw R

England: Oxford University Press

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A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations

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.

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277 Disentangling corticobasal syndrome from corticobasal degeneration

Ruth, Lamb ; Jonathan, Rohrer ; Steven, Lubbe ; Rimona, Weil ; Tammaryn, Lashley ; Janice, Holten ; Tamas, Revesz ; Andrew, Lees ; Huw, Morris

London: BMJ Publishing Group LTD

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Is the MC1R variant p.R160W associated with Parkinson's?

Lubbe, Steven J. ; Escott-Price, Valentina ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Sharma, Manu ; Wood, Nicholas W. ; Nalls, Mike ; Singleton, Andrew B. ; Williams, Nigel M. ; Morris, Huw R.

United States: Blackwell Publishing Ltd

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Novel Mutation of NUS1 Gene Presenting With Developmental and Epileptic Encephalopathy and Movement Disorders (P4.8-051)

Prakash, Neha ; Zadikoff, Cindy ; Kinsley, Lisa ; Lubbe, Steven ; Mencacci, Niccolò ; Krainc, Dimitri

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

Mencacci, Niccolò E ; Reynolds, Regina ; 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

England: Oxford University Press

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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

Iwaki, Hirotaka ; Makarious, Mary B. ; Bandrés‐Ciga, Sara ; Leonard, Hampton L. ; Gibbs, J. Raphael ; Singleton, Andrew B. ; Middlehurst, Ben ; Kia, Demis A ; Houlden, Henry ; Morris, Huw R ; Plun‐Favreau, Helene ; Quinn, John ; Mok, Kin Y ; Kinghorn, Kerri J. ; Wood, Nicholas W ; Lewis, Patrick ; Lovering, Ruth ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott‐Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Clarke, Carl ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Martinez, Maria ; Simón‐Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Bandres‐Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Billingsley, Kimberley ; Narendra, Derek ; Raphael Gibbs, J ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Leonard, Hampton L. ; Nalls, Mike A. ; Finkbeiner, Steven ; Lungu, Codrin ; Singleton, Andrew B ; Gan‐Or, Ziv ; Rouleau, Guy A. ; Krohn, Lynne ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Barrero, Francisco Javier ; Yarza, Jesús Alberto Bergareche ; Bonilla‐Toribio, Marta ; Boungiorno, María Teresa ; Buiza‐Rueda, Dolores ; Cámara, Ana ; Carrillo, Fátima ; Carrión‐Claro, Mario ; Cerdan, Debora ; Diez‐Fairen, Monica ; Dols‐Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla‐Sevilla, Francisco ; Feliz, Cici ; Fernández, Manel ; Gonzalez‐Aramburu, Isabel ; Pagola, Ana Gorostidi ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez‐Escrig, Adriano ; Kulisevsky, Jaime ; Labrador‐Espinosa, Miguel A. ; Lopez‐Sendon, Jose Luis ; Torres, Irene Martínez ; Mir, Pablo ; Rezola, Elisabet Mondragon ; Periñán‐Tocino, Teresa ; Ruiz‐Martínez, Javier ; Ruz, Clara ; Rodriguez, Antonio Sanchez ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Koks, Sulev ; Siitonen, Ari ; Kaiyrzhanov, Coordinator ‐ Rauan ; Zharkinbekova, Nazira ; Aitkulova, Akbota ; Kaishybayeva, Gulnaz ; Karimova, Altynay

Hoboken, USA: John Wiley & Sons, Inc

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