Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics
Wong, Yvette C, Kim, Soojin, Cisneros, Jasmine, Molakal, Catherine G, Song, Pingping, Lubbe, Steven J, Krainc, Dimitri
Published in The Journal of cell biology (03.10.2022)
Published in The Journal of cell biology (03.10.2022)
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Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk
Lubbe, Steven J, Bustos, Bernabe I, Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina, Williams, Nigel M, Blauwendraat, Cornelis, Singleton, Andrew B, Morris, Huw R
Published in Human molecular genetics (25.03.2021)
Published in Human molecular genetics (25.03.2021)
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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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Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
Kia, Demis A, Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H, Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A, Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W
Published in Archives of neurology (Chicago) (01.04.2021)
Published in Archives of neurology (Chicago) (01.04.2021)
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Journal Article
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk
Bustos, Bernabe I, Billingsley, Kimberley, Blauwendraat, Cornelis, Gibbs, J Raphael, Gan-Or, Ziv, Krainc, Dimitri, Singleton, Andrew B, Lubbe, Steven J
Published in Brain (London, England : 1878) (05.01.2023)
Published in Brain (London, England : 1878) (05.01.2023)
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Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease
Krainc, Talia, Monje, Mariana H.G., Kinsinger, Morgan, Bustos, Bernabe I., Lubbe, Steven J.
Published in Movement disorders (01.02.2023)
Published in Movement disorders (01.02.2023)
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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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Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation
LUBBE, Steven J, CHIARA DI BERNARDO, Maria, CHANDLER, Ian P, HOULSTON, Richard S
Published in Journal of clinical oncology (20.08.2009)
Published in Journal of clinical oncology (20.08.2009)
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Journal Article
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
Published in Annals of neurology (01.11.2020)
Published in Annals of neurology (01.11.2020)
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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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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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YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation
Zorzi, Giovanna, Keller Sarmiento, Ignacio Juan, Danti, Federica Rachele, Bustos, Bernabe I., Invernizzi, Federica, Panteghini, Celeste, Reale, Chiara, Garavaglia, Barbara, Chiapparini, Luisa, Lubbe, Steven J., Nardocci, Nardo, Mencacci, Niccolò E.
Published in Movement disorders (01.06.2021)
Published in Movement disorders (01.06.2021)
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Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
Dunlop, Malcolm G, Dobbins, Sara E, Farrington, Susan Mary, Jones, Angela M, Palles, Claire, Whiffin, Nicola, Tenesa, Albert, Spain, Sarah, Broderick, Peter, Ooi, Li-Yin, Domingo, Enric, Smillie, Claire, Henrion, Marc, Frampton, Matthew, Martin, Lynn, Grimes, Graeme, Gorman, Maggie, Semple, Colin, Ma, Yusanne P, Barclay, Ella, Prendergast, James, Cazier, Jean-Baptiste, Olver, Bianca, Penegar, Steven, Lubbe, Steven, Chander, Ian, Carvajal-Carmona, Luis G, Ballereau, Stephane, Lloyd, Amy, Vijayakrishnan, Jayaram, Zgaga, Lina, Rudan, Igor, Theodoratou, Evropi, Starr, John M, Deary, Ian, Kirac, Iva, Kovacević, Dujo, Aaltonen, Lauri A, Renkonen-Sinisalo, Laura, Mecklin, Jukka-Pekka, Matsuda, Koichi, Nakamura, Yusuke, Okada, Yukinori, Gallinger, Steven, Duggan, David J, Conti, David, Newcomb, Polly, Hopper, John, Jenkins, Mark A, Schumacher, Fredrick, Casey, Graham, Easton, Douglas, Shah, Mitul, Pharoah, Paul, Lindblom, Annika, Liu, Tao, Smith, Christopher G, West, Hannah, Cheadle, Jeremy P, Midgley, Rachel, Kerr, David J, Campbell, Harry, Tomlinson, Ian P, Houlston, Richard S
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures
Keller Sarmiento, Ignacio J., Bustos, Bernabe I., Blackburn, Joanna, Hac, Nicholas E.F., Ruzhnikov, Maura, Monroe, Matthea, Levy, Rebecca J., Kinsley, Lisa, Li, Megan, Silani, Vincenzo, Lubbe, Steven J., Krainc, Dimitri, Mencacci, Niccolò E.
Published in Movement disorders (01.07.2024)
Published in Movement disorders (01.07.2024)
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Replication assessment of NUS1 variants in Parkinson's disease
Bustos, Bernabe I., Bandres-Ciga, Sara, Gibbs, J. Raphael, Krainc, Dimitri, Mencacci, Niccolo E., Gan-Or, Ziv, Lubbe, Steven J.
Published in Neurobiology of aging (01.05.2021)
Published in Neurobiology of aging (01.05.2021)
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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
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
Published in Annals of neurology (01.03.2021)
Published in Annals of neurology (01.03.2021)
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Journal Article
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
Tomlinson, Ian, Houlston, Richard, Webb, Emily, Carvajal-Carmona, Luis, Broderick, Peter, Kemp, Zoe, Spain, Sarah, Penegar, Steven, Chandler, Ian, Gorman, Maggie, Wood, Wendy, Barclay, Ella, Lubbe, Steven, Martin, Lynn, Sellick, Gabrielle, Jaeger, Emma, Hubner, Richard, Wild, Ruth, Rowan, Andrew, Fielding, Sarah, Howarth, Kimberley, Silver, Andrew, Atkin, Wendy, Muir, Kenneth, Logan, Richard, Kerr, David, Johnstone, Elaine, Sieber, Oliver, Gray, Richard, Thomas, Huw, Peto, Julian, Cazier, Jean-Baptiste
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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