Intravenous intralipid infusion in hepatic steatosis: an in vivo hepatic phosphorus-31 magnetic resonance spectroscopy study von Seery, John P, Bryant, David J, Jenkinson, Gabriele, Schwieso, Jane E, Houlden, Henry J, Kumar Changani, K, Hodgson, Humphrey J.F, Taylor-Robinson, Simon D

Volltext

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications von Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

Volltext

DNA repair in the trinucleotide repeat disorders von Jones, Lesley, Prof, Houlden, Henry, Prof, Tabrizi, Sarah J, Prof

Volltext

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

Volltext

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis von Garcia-Reitboeck, Pablo, Phillips, Alexandra, Piers, Thomas M., Villegas-Llerena, Claudio, Butler, Matt, Mallach, Anna, Rodrigues, Celia, Arber, Charles E., Heslegrave, Amanda, Zetterberg, Henrik, Neumann, Harald, Neame, Stephen, Houlden, Henry, Hardy, John, Pocock, Jennifer M.

Volltext

Age-related penetrance of the C9orf72 repeat expansion von Murphy, Natalie A., Arthur, Karissa C., Tienari, Pentti J., Houlden, Henry, Chiò, Adriano, Traynor, Bryan J.

Volltext

Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache von O'Connor, Emer, Fourier, Carmen, Ran, Caroline, Sivakumar, Prasanth, Liesecke, Franziska, Southgate, Laura, Harder, Aster V. E., Vijfhuizen, Lisanne S., Yip, Janice, Giffin, Nicola, Silver, Nicholas, Ahmed, Fayyaz, Hostettler, Isabel C., Davies, Brendan, Cader, M. Zameel, Simpson, Benjamin S., Sullivan, Roisin, Efthymiou, Stephanie, Adebimpe, Joycee, Quinn, Olivia, Campbell, Ciaran, Cavalleri, Gianpiero L., Vikelis, Michail, Kelderman, Tim, Paemeleire, Koen, Kilbride, Emer, Grangeon, Lou, Lagrata, Susie, Danno, Daisuke, Trembath, Richard, Wood, Nicholas W., Kockum, Ingrid, Winsvold, Bendik S., Steinberg, Anna, Sjöstrand, Christina, Waldenlind, Elisabet, Vandrovcova, Jana, Houlden, Henry, Matharu, Manjit, Belin, Andrea Carmine

Volltext

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

Volltext

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families von Scriba, Carolin K., Beecroft, Sarah J., Clayton, Joshua S., Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y., Davis, Mark R., Chandler, David C., Weisburd, Ben, Houlden, Henry, Reilly, Mary M., Laing, Nigel G., Lamont, Phillipa J., Roxburgh, Richard H., Ravenscroft, Gianina

Volltext

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases von Bettencourt, Conceição, Hensman-Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas-Gómez, Petra, García-Velázquez, Lizbeth Esmeralda, Alonso-Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley

Volltext

A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele von Beecroft, Sarah J., Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y., Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G., Houlden, Henry, Reilly, Mary M., Roxburgh, Richard H.

Volltext

Alpha-synuclein mRNA expression in oligodendrocytes in MSA von Asi, Yasmine T., Simpson, Julie E., Heath, Paul R., Wharton, Stephen B., Lees, Andrew J., Revesz, Tamas, Houlden, Henry, Holton, Janice L.

Volltext

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura von Banerjee, Gargi, Adams, Matthew E., Jaunmuktane, Zane, Alistair Lammie, G., Turner, Ben, Wani, Mushtaq, Sawhney, Inder M. S., Houlden, Henry, Mead, Simon, Brandner, Sebastian, Werring, David J.

Volltext

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia von Brownjohn, Philip W., Smith, James, Solanki, Ravi, Lohmann, Ebba, Houlden, Henry, Hardy, John, Dietmann, Sabine, Livesey, Frederick J.

Volltext

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia von Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.

Volltext

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome von Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip

Volltext

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies von Vallerga, Costanza L, Tan, Manuela, Kia, Demis A, Xue, Angli, Young, Emily, Sharma, Manu, Krohn, Lynne, Siitonen, Ari, Iwaki, Hirotaka, Leonard, Hampton, Botia, Juan A, Martinez, Maria, Jankovic, Joseph, Sutherland, Margaret, Majamaa, Kari, Andreassen, Ole A, Gan-Or, Ziv, Gasser, Thomas, Heutink, Peter, Gratten, Jacob, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Bergareche Yarza, Jesús Alberto, Billingsley, Kimberley, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Bubb, Vivien, Buiza-Rueda, Dolores, Cerdan, Debora, Chelban, Viorica, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Escott-Price, Valentina, Ezquerra, Mario, Fernández, Manel, Fernández-Santiago, Rubén, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Hernandez, Dena G, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Kaiyrzhanov, Rauan, Kia, Demis A, Leonard, Hampton L, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Majamaa, Kari, Manzoni, Claudia, Marti, Maria Jose, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Muñoz, Esteban, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Reed, Xylena, Rezola, Elisabet Mondragon, Rodriguez, Antonio Sanchez, Ruiz-Martínez, Javier, Sadykova, Dinara, Shashkin, Chingiz, Sierra, María, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tolosa, Eduard, van Hilten, Jacobus J, Vargas-González, Laura, Wood, Nicholas W, Zimprich, Alexander, Reich, Stephen, Savitt, Joseph, Bryc, Katarzyna, Hicks, Barry, Jiang, Yunxuan, McCreight, Jennifer C., McIntyre, Matthew H., Noblin, Elizabeth S., Sathirapongsasuti, J. Fah, Tung, Joyce, Anderson, Tim, Bentley, Steven, Kennedy, Martin, Mellick, George, Sidorenko, Julia, Silburn, Peter A., Visscher, Peter M., Yang, Jian

Volltext

Genetic risk factors for intracranial aneurysms: A meta-analysis in more than 116,000 individuals von Alg, Varinder S, Sofat, Reecha, Houlden, Henry, Werring, David J

Volltext

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population von Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro, Orrell, Richard W., Malaspina, Andrea, Rowe, James, Brown, Jeremy, Hodges, John, Sidle, Katie, Polke, James M., Houlden, Henry, Schott, Jonathan M., Fox, Nick C., Rossor, Martin N., Tabrizi, Sarah J., Isaacs, Adrian M., Hardy, John, Warren, Jason D., Collinge, John, Mead, Simon

Volltext

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation von HAYF LICK, Susan J, KRUER, Michael C, DANDU, Vasuki H, NARDOCCI, Nardo, ZORZI, Giovanna, DUNAWAY, Todd, TARNOPOLSKY, Mark, SKINNER, Steven, HOLDEN, Kenton R, FRUCHT, Steven, HANSPAL, Era, SCHRANDER-STUMPEL, Connie, GREGORY, Allison, MIGNOT, Cyril, HERON, Delphine, SAUNDERS, Dawn E, KAMINSKA, Margaret, LIN, Jean-Pierre, LASCELLES, Karine, CUNO, Stephan M, MEYER, Esther, GARAVAGLIA, Barbara, BHATIA, Kailash, HAACK, Tobias B, DE SILVA, Rajith, CRISP, Sarah, LUNT, Peter, CAREY, Martyn, HARDY, John, MEITINGER, Thomas, PROKISCH, Holger, HOGARTH, Penelope, KURIAN, Manju A, HOULDEN, Henry H, ANDERSON, James, BODDAERT, Nathalie, SANFORD, Lynn, HARIK, Sami I

Volltext